(Diploma in Fetal Medicine Series) G Pilu - K H Nicolaides - Diagnosis of Fetal Abnormalities - The 18-23-Week Scan-Parthenon Pub. Group (1999)

Diagnosis of
fetal abnormalities
The 18-23-week scan
Diploma in Fetal Medicine Series
S e rie s E d ito r: K. H. N ico la id e s
Diagnosis of
fetal abnormalities
The 18-23-week scan
Gianluigi Pilu & Kypros H. Nicolaides
informa
healthcare
CRC Press
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Contents
In tro d u c tio n 1
1 Standard view s for ex am ination o f the fetus 3
2 C en tral nervous system 5
N o rm a l sonographic anatom y 5
N e u ra l tu b e defects 6
H ydrocephalus and ventriculom egaly 7
H o lo p ro sen cep h aly 9
Agenesis o f th e corpus callosum 9
D andy—W alker co m plex 10
M icro cep h aly 11
M egalencephaly 12
D estructive cerebral lesions 12
C h o ro id plexus cysts 13
V ein o f G alen aneurysm 14
3 Face 19
N o rm al sonographic anatom y 19
O rb ital defects 19
Facial cleft 21
M icro g n ath ia 22
4 C ardiovascular system 25
Philippe Jeanty and G ianluigi Pilu
A ssessm ent o f th e fetal heart 26

A trial septal defects 28
V entricular septal defects 28
A trio v en tricu lar septal defects 29
C ardiosplenic syndrom es 31
U n iv en tricu lar h eart 32
A ortic stenosis 33
C o a rc ta tio n and tu b u lar hypoplasia o f the aorta 34
DIAGNOSIS OF FETAL ABNORM ALITIES: THE 18-23-W EEK SCAN
Interrupted aortic arch 35

Hypoplastic left heart syndrome 36
Pulm onary stenosis and pulmonary atresia 37
Conotruncal malformations 38
Transposition o f the great arteries 38
D ouble-outlet right ventricle 40
Tetralogy o f Fallot 41
Truncus arteriosus communis 42
Ebstein’s anomaly and tricuspid valve dysplasia 43
Echogenic foci 44
Cardiac dysrhythmias: premature contractions 45
Cardiac dysrhythmias: tachyarrhythmias 45
Cardiac dysrhythmias: complete atrioventricular block 47
5 Pulmonary abnormalities 53
Cystic adenom atoid malformation o f the lung 53
Diaphragmatic hernia 54
Pleural effusions 56
Sequestration o f the lungs 57
6 Anterior abdominal wall 61

N orm al sonographic anatomy 61
Exomphalos 61
Gastroschisis 62
Body stalk anomaly 63
Bladder exstrophy and cloacal exstrophy 64
7 Gastrointestinal tract 67
N orm al sonographic anatomy 67
Esophageal atresia 67
D uodenal atresia 68
Intestinal obstruction 69
Hirschsprung’s disease 70
M econium peritonitis 71
Hepatosplenomegaly 72
Hepatic calcifications 72
Abdominal cysts 73
CON TENTS
8 K idneys and urinary tract 77
R e n a l agenesis 77
Infantile polycystic k idney disease (P o tter type I) 78
M ulticystic dysplastic kidney disease (P otter type II) 79
P o tte r type III renal dysplasia 80
O b stru ctiv e uropathies 81
9 S keleton 87
Gianluigi Pilu and Roberto Romero
Skeletal anom alies 87
O steochondrodysplasias 91
Lim b deficiency o r congenital am putations 94
Split h an d an d foot syndrom e 95
C lubhands 95
Polydactyly 96
Fetal akinesia d efo rm atio n sequence (FADS) 96
10 Features o f chro m o so m al defects 99
Kypros Nicolaides and Rosalinde Snijders
P h en o ty p ic expression 99
R isk for ch ro m o so m al defects 100
11 Fetal tum ors 105
Israel M eizner
In tro d u c tio n 105

Intracranial tu m o rs 108
T um ors o f th e face and neck 109
T um ors o f th e th o rax 110
T u m o rs o f th e ab d o m en and re tro p e rito n e u m 111
T u m o rs o f the extrem ities 112
T u m o rs o f th e skin 112
Sacrococcygeal teratom a 113
12 H y d ro p s fetalis 115
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E E K SCAN
13 Small for gestational age 117
14 A bnorm alities o f th e am niotic fluid v o lu m e 121
O lig o h y d ram n io s/an h y d ram n io s 121

Polyhydram nios 122
A pp en d ix I: R isk o f m ajor trisom ies in relation to m aternal age and gestation 125
A pp en d ix II: A ntenatal sonographic findings in skeletal dysplasias 127
A p p en d ix III: Fetal b io m etry at 14—40 w eeks o f gestation 131
W eb sites p ro v id in g useful in fo rm ation for prenatal diagnosis 139
Ind ex 141
Introduction
U ltraso u n d is th e m ain diagnostic to o l in the prenatal d etectio n o f congenital ab n o r

malities. It allows exam in atio n o f the external and internal anatom y o f the fetus and the
d etectio n o f n o t only m ajo r defects b u t also o f subtle m arkers o f chrom osom al ab nor
malities and genetic syndrom es. A lthough som e w o m e n are at high risk o f fetal ab nor
m alities, eith er because o f a fam ily history o r due to exposure to teratogens such as
infection and various drugs, the vast m ajority o f fetal abnorm alities o ccu r in the
lo w -risk group. C o n seq u en tly , ultrasound exam ination should be offered ro u tinely to
all p reg n an t w o m e n . T h e scan, w h ic h is usually perfo rm ed at 18—23 w eeks o f preg
nancy, should be carried o u t to a high standard and should include system atic exam ina
tio n o f the fetus for th e d etectio n o f b o th m ajor and m in o r defects.
T h e Fetal M edicine F o u n d atio n , u n d e r th e auspices o f th e In ternational Society o f

U ltraso u n d in O bstetrics and G ynecology and the W o rld A ssociation o f Perinatal
M ed icin e, has in tro d u c e d a process o f training and certification to help establish high
standards o f scanning o n an in ternational basis. T h e C ertificate o f C o m p e te n c e in the
18—2 3 -w e e k scan is aw arded to those sonographers that can perfo rm the scan to a
high standard and can dem onstrate a g o o d k n o w ledge o f a w ide spectrum o f fetal
abnorm alities.
T his b o o k , w h ic h sum m arizes the prevalence, etiology, prenatal sonographic fea

tures and prognosis for b o th c o m m o n and rare fetal abnorm alities, provides the basis o f
learning for th e theoretical c o m p o n e n t o f th e C ertificate o f C o m p e te n c e in the
18—2 3 -w e e k scan.
1
1
Standard views for examination

o f the fetus
A t the 18—2 3 -w e e k scan, th e necessary view s should be ob tain ed to exam ine ro utinely
th e follow ing organs:
(1) Skull E x am in atio n o f integ rity and norm al shape, and m easurem ent o f
biparietal d iam eter and head circum ference
(2) B rain E x am in atio n o f cerebral ventricles, ch o ro id plexuses, m id-brain,

p o sterio r fossa (cerebellum and cisterna m agna), and m easurem ent o f
th e an terio r and p o sterio r horns o f the lateral ventricles
(3) Face E x am in atio n o f the profile, orbits and u p p er lip
(4) N eck M easu rem en t o f nuchal fold thickness
(5) Spine E x am in atio n b o th longitudinally and transversely
(6) H e a rt E x am in atio n o f rate and rh y th m , fo u r-ch a m b er view , and o u tflo w

tracts
(7) T h o ra x E x am in atio n o f the shape o f the thorax, the lungs and diaphragm
(8) A b d o m en E x am in atio n o f the stom ach, liver, kidneys, bladder, abdom inal wall
an d um bilicus, and m easurem ent o f abdom inal circum ference
(9) Lim bs E x am in atio n o f the fem ur, tibia and fibula, h u m erus, radius and ulna,
hands an d feet (including shape and echogenicity o f lo n g bones and
m o v e m e n t o fjo in ts), and m easurem ent o f fem ur length
3
DIA GNOSIS OF FETAL A BN ORM ALITIES: T H E 18-23-W EEK SCAN
of the fetus
Standard views for examination
Figure 1
4
Central nervous system
NO RM AL SO N O G R A PH IC A N A TO M Y
T h e fetal brain undergoes m ajor developm ental changes th ro u g h o u t pregnancy. A t 7
w eeks o f gestation, a so n o lu cen t area is seen in the cephalic pole, presum ably represent
ing the fluid-filled rhom b en cephalic vesicle. A t 9 w eeks, d em onstration o f the co n v o
lu ted pattern o f th e th ree prim ary cerebral vesicles is feasible. F rom 11 w eeks, the
brightly echogenic ch o ro id plexuses filling the large lateral ventricles are the m ost
p ro m in e n t intracranial structures. In the early second trim ester, the lateral ventricles
and ch o ro id plexuses decrease in size relative to the brain mass.
E xam in atio n o f th e fetal brain can essentially be earn ed o u t by tw o transverse planes

(see Figure 2, p. 15). A transverse scan at the level o f the cavum septum pellucidum will
dem onstrate th e lateral b o rders o f the an terio r horns, the m edial and lateral borders o f
the p o sterio r horns o f th e lateral ventricles, the c h o ro id plexuses, the th ird ventricle and
th e Sylvian fissures; this view is used for m easurem ent o f the biparietal diam eter (BPD ),
head circum ference (H C ), and w idth o f the ventricles. T h e suboccipitobregm atic view
allows exam ination o f th e m id -brain and posterior fossa; this v iew is used for m easure
m e n t o f the transverse cerebellar diam eter (T C D ) and cisterna m agna.
A dditional scanning planes along different orientations m ay be req u ired from

tim e to tim e to b e tte r define subtle details o f intracranial anatom y in selected cases.
R e v e rb e ra tio n artifacts usually obscure the cerebral hem isphere close to the transducer.
V isualization o f b o th cerebral hem ispheres w o u ld require sagittal and coronal planes
that are often difficult to obtain and m ay require vaginal sonography. Luckily, unilateral
cerebral lesions are rare and are often associated w ith a shift in the m id-line echo.
T h erefo re, w e adhere to th e approach that, in standard exam ination, only one
hem isphere is seen, and sym m etry is assum ed unless otherw ise proven.
A sagittal a n d /o r coronal view o f the en tire fetal spine should be ob tain ed in each
case (see F igure 4, p. 16). In the sagittal plane, the norm al spine has a ‘double railw ay’
5
DIA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E EK SCA N
appearance and it is possible to appreciate the intact soft tissues above it. In the coronal
plane, th e th ree ossification centers o f the vertebrae fo rm three regular lines th at teth er
d o w n in to th e sacrum . T hese view s are used to assess the integrity o f the vertebrae (to
rule o u t spina bifida) and the presence and regularity o f the w h o le spine (to rule o u t
sacral agenesis and scoliosis). W h e th e r a system atic exam ination o f each neural arch,
from th e cervical to th e sacral region in the transverse plane, is necessary is debatable.
T his is certainly req u ired for patients at high risk o f neural tu b e defects. In low -risk
patients, intact cerebral anatom y rules o u t m o re than 90% o f cases o f spina bifida and w e
believe that the lo n g itu d in a l/c o ro n al scan m ay suffice.
NEU RAL TUBE DEFECTS

T hese include anencephaly, spina bifida and encephalocele. In anencephaly, there is
absence o f th e cranial vault (acrania) w ith secondary degeneration o f the brain.
E ncephaloceles are cranial defects, usually occipital, w ith h erniated fluid-filled o r
brain-filled cysts. In spina bifida, the neural arch, usually in the lum bosacral region, is
in co m p lete w ith secondary dam age to the exposed nerves.
Prevalence
T his is subject to large geographical and tem poral variations; in the U K the prevalence
is ab o u t 5 p e r 1000 births. A n encephaly and spina bifida, w ith an approxim ately equal
prevalence, acco u n t for 95% o f the cases and encephalocele for the rem aining 5%.
Etiology
C h ro m o so m al abnorm alities, single m u ta n t genes, and m aternal diabetes m ellitus o r in
gestion o f teratogens, such as antiepileptic drugs, are im plicated in ab o u t 10% o f the
cases. H o w e v e r, the precise etiology for the m ajority o f these defects is u n k n o w n .
W h e n a paren t o r previous sibling has had a neural tu b e defect, the risk o f recurrence is
5-10% . P erico n cep tu al su p p lem entation o f the m aternal d iet w ith folate reduces by
about h alf th e risk o f d eveloping these defects.
Diagnosis
T h e diagnosis o f anencephaly d u rin g the second trim ester o f pregnancy is based o n the
d em o n stratio n o f absent cranial vault and cerebral hem ispheres (see Figure 3, p. 15).
H o w e v e r, th e facial bones, brain stem and p o rtions o f the occipital bones and m id-brain
are usually present. A ssociated spinal lesions are fo u n d in up to 50% o f cases. In the first
trim ester, the diagnosis can be m ade after 11 w eeks, w h e n ossification o f the skull
norm ally occurs. U ltraso u n d reports have dem onstrated that th ere is progression
from acrania to exencephaly and finally anencephaly. In the first trim ester, the
6
C E N T R A L N E R V O U S SYSTEM
path o g n o m o n ic feature is acrania, the brain b ein g e ith e r entirely norm al o r at varying
degrees o f disto rtio n and disruption.
D iagnosis o f spina bifida requires the system atic ex am in atio n o f each neural arch,
from th e cervical to th e sacral region, b o th transversely and longitudinally (see Figure 4,
p. 16). In the transverse scan, the norm al neural arch appears as a closed circle w ith an
intact skin covering, w hereas in spina bifida the arch is ‘U ’-shaped and there is an associ
ated bulging m enin g o cele (thin-w alled cyst) o r m yelom eningocele. T h e ex ten t o f the
defect an d any associated kyphoscoliosis are best assessed in the longitudinal scan.
T h e diagnosis o f spina bifida has b een greatly en h an ce d by the reco g n itio n o f associ
ated abnorm alities in the skull and brain. T hese abnorm alities include frontal bo n e
scalloping (lem on sign), and obliteration o f the cisterna m agna w ith either an ‘absent’
cerebellum o r abnorm al an terior curvature o f the cerebellar hem ispheres (banana sign).
T hese easily recognizable alterations in skull and brain m o rp h o lo g y are often m ore
readily attainable than detailed spinal views. A variable degree o f ventricular enlarge
m e n t is p resent in virtually all cases o f op en spina bifida at b irth , b u t in only ab o u t 70%
o f cases in the m id-trim ester.
Encephaloceles are recognized as cranial defects w ith h erniated fluid-filled or

brain-filled cysts. T h e y are m ost c o m m o n ly fo u n d in an occipital location (75% o f the
cases), b u t alternative sites include the fro n to e th m o id al and parietal regions.
Prognosis
A nencephaly is fatal at o r w ith in hours o f birth. In encephalocele, the prognosis is
inversely related to th e a m o u n t o f h erniated cerebral tissue. O verall, the neonatal
m ortality is ab o u t 40% and m ore that 80% o f survivors are intellectually and n eu ro lo g i-
cally handicapped. In spina bifida, the surviving infants are often severely handicapped,
w ith paralysis in the lo w er lim bs and double in co n tin en c e; despite the associated
hydrocephalus req u irin g surgery, intelligence m ay be norm al.
Fetal therapy
T h e re is som e ex perim ental evidence that in utero closure o f spina bifida m ay reduce the
risk o f handicap because th e am niotic fluid in th e th ird trim ester is th o u g h t to be
n eu ro to x ic.
H Y D R O C EPH A LU S A N D VENTRICULO M EGALY

In hydrocephalus, th ere is a pathological increase in the size o f the cerebral ventricles.
7
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E E K SCA N
Prevalence
H yd ro cep h alu s is fo u n d in ab o u t 2 p er 1000 births. V entriculom egaly (lateral ventricle
d iam eter o f 10 m m o r m ore) is fo u n d in 1% o f pregnancies at the 18—2 3 -w eek
scan. T h erefo re, th e m ajority o f fetuses w ith ventriculom egaly do n o t develop
hydrocephalus.
Etiology
T h is m ay result from chro m o so m al and genetic abnorm alities, in trauterine hem orrhage
o r congenital infection, although m any cases have as yet n o clear-cu t etiology.
Diagnosis
Fetal hydrocephalus is diagnosed sonographically by the dem o n stratio n o f abnorm ally
dilated lateral cerebral ventricles (see Figure 5, p. 16). C ertainly, before 24 w eeks and
particularly in cases o f associated spina bifida, the head circum ference m ay be small
rath er than large for gestation. A transverse scan o f the fetal head at th e level o f the
cavum sep tu m pellucidum w ill dem onstrate the dilated lateral ventricles, defined by a
diam eter o f 10 m m o r m ore. T h e ch o ro id plexuses, w h ich norm ally fill th e lateral v e n
tricles, are su rro u n d ed by fluid.
Prognosis
Fetal o r perinatal death and n eu ro d e v e lo p m e n t in survivors are strongly related to the
presence o f o th e r m alform ations and chrom osom al defects. A lthough m ild v en tric u lo
m egaly (atrial w id th o f 10—15 m m ) is generally associated w ith a g o o d prognosis,
affected fetuses form th e g roup w ith the highest in cidence o f chrom osom al abnorm ali
ties (often trisom y 21). In ad dition, in a few cases w ith apparently isolated m ild
v entriculom egaly, there m ay be an un d erly in g cerebral m aldevelopm ent (such as
lissencephaly) o r destructive lesion (such as p eriventricular leukom alacia). R e c e n t
evidence suggests that, in ab o u t 10% o f cases, th ere is m ild to m o d erate n e u ro -
develo p m en tal delay.
Fetal therapy
T h e re is som e ex perim ental evidence th at in utero cerebrospinal fluid diversion m ay
be beneficial. H o w ev er, attem pts in the 1980s to treat hydrocephalic fetuses by
v en tricu lo —am niotic sh u n tin g have n o w b ee n aband o n ed because o f p o o r results,
m ainly because o f in appropriate selection o f patients. It is possible that in trau terin e
drainage m ay be beneficial if all in tra- and extra-cerebral m alform ations and c h ro m o
som al defects are excluded, and if serial ultrasound scans dem onstrate progressive
ventriculom egaly.
8
H O LO PRO SEN CEPH A LY

T his is a sp ectru m o f cerebral abnorm alities resulting from inco m p lete cleavage o f the
forebrain. T h e re are th ree types according to the degree o f forebrain cleavage. T h e
alobar type, w h ic h is th e m ost severe, is characterized by a m o n o v en tricu lar cavity
and fusion o f th e thalam i. In the sem ilobar type, there is partial segm entation o f the
ventricles and cerebral hem ispheres posteriorly w ith in co m p lete fusion o f the thalam i.
In lobar holopro sen cep h aly , there is norm al separation o f the ventricles and thalam i b u t
absence o f th e sep tu m pellucidum . T h e first tw o types are often accom panied by
m icrocephaly and facial abnorm alities.
Prevalence
H o lo p ro sen cep h aly is fo u n d in about 1 p e r 10 000 births.
Etiology
A lthough in m any cases the cause is a chrom osom al abnorm ality (usually trisom y 13) or
a genetic d isorder w ith an autosom al d o m in an t o r recessive m o d e o f transm ission, in
m any cases th e etio lo g y is u n k n o w n . F o r sporadic, n o n -ch ro m o so m a l holo p ro sen
cephaly, the em pirical recu rrence risk is 6%.
Diagnosis
In the standard transverse view o f the fetal head for m easurem ent o f the biparietal dia
m eter, th ere is a single dilated m id-line ventricle replacing the tw o lateral ventricles or
partial seg m en tatio n o f th e ventricles (see Figure 6, p. 17). T h e alobar and sem ilobar
types are often associated w ith facial defects, such as hypotelorism o r cyclopia, facial
cleft and nasal hypoplasia o r proboscis.
Prognosis
A lobar and sem ilobar h o lo prosencephaly are lethal. L obar holoprosencephaly is associ
ated w ith m en tal retardation.
AGENESIS OF TH E C O R PU S CALLOSUM
T h e corpus callosum is a b u n d le o f fibers th at connects the tw o cerebral hem ispheres. It
develops at 12—18 w eeks o f gestation. Agenesis o f the corpus callosum may be either
com plete o r partial (usually affecting the p o sterio r part).
Prevalence
A genesis o f th e corpus callosum is found in ab o u t 5 p e r 1000 births.
9
DIA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E E K SCA N
Etiology
Agenesis o f the corpus callosum m ay be due to m aldevelopm ent o r secondary to a
destructive lesion. It is co m m o n ly associated w ith chrom osom al abnorm alities (usually
trisom ies 18, 13 and 8) and m o re than 100 genetic syndrom es.
Diagnosis
T h e corpus callosum is n o t visible in the standard transverse view s o f the brain, b u t
agenesis o f the corpus callosum m ay be suspected by the absence o f the cavum septum
pellu cid u m and the ‘teard ro p ’ configuration o f the lateral ventricles (enlargem ent o f the
posterior horns). Agenesis o f the corpus callosum is dem onstrated in the m id -co ro n al
and m id-sagittal view s, w h ich m ay require vaginal sonography.
Prognosis
T his depends o n the u n d erly in g cause. In ab o u t 90% o f those w ith apparently isolated
agenesis o f the corpus callosum , d ev elo p m en t is norm al.
D A N D Y -W A L K E R COM PLEX
T h e D an d y —W alk er com plex refers to a sp ectru m o f abnorm alities o f the cerebellar
verm is, cystic dilatation o f the fo u rth ventricle and enlargem ent o f the cistem a m agna.
T h e c o n d itio n is classified into:
(1) D an d y —W alker m alform ation (com plete o r partial agenesis o f the cerebellar verm is
and enlarged posterior fossa);
(2) D an d y —W alker variant (partial agenesis o f the cerebellar verm is w ith o u t enlarge
m e n t o f th e p o sterio r fossa); and
(3) M ega-cisterna m agna (norm al verm is and fo u rth ventricle).
Prevalence
D andy—W alk er m alform ation is fo u n d in ab o u t 1 p e r 30 000 births.
E tiology
T h e D andy—W alk er co m plex is a non-specific e n d -p o in t o f chrom osom al abnorm ali
ties (usually trisom ies 18 o r 13 and trip lo id y ), m ore than 50 genetic syndrom es, c o n g e n
ital in fectio n o r teratogens such as w arfarin, b u t it can also be an isolated finding.
10
Diagnosis
U ltrasonographically, the co n tents o f th e posterior fossa are visualized th ro u g h a trans
verse suboccipitobregm atic section o f the fetal head (see Figure 7, p. 18). In the
D andy—W alk er m alform ation, there is cystic dilatation o f the fo u rth ventricle w ith par
tial o r com plete agenesis o f th e verm is; in m o re than 50% o f the cases th ere is associated
hydrocephalus and o th e r extracranial defects. Enlarged cisterna m agna is diagnosed if
th e vertical distance from th e verm is to the in n er b o rd e r o f the skull is m o re than
10 m m . Prenatal diagnosis o f isolated partial agenesis o f the verm is is difficult and a false
diagnosis can be m ade i f th e angle o fin so n a tio n is to o steep.
Prognosis
D andy—W alk er m alform ation is associated w ith a high postnatal m ortality (about 20%)
and a high in cidence (m ore than 50%) o f im paired intellectual and neurological devel
opm en t. E xperien ce w ith apparently isolated partial agenesis o f the verm is o r enlarged
cisterna m agna is lim ited and the prognosis fo r these conditions is uncertain.
M ICROCEPHALY
M icrocephaly m eans small head and brain.
Prevalence
M icrocephaly is fo u n d in a b o u t 1 p er 1000 births.
Etiology
T his m ay result fro m chro m o som al and genetic abnorm alities, fetal hypoxia, congenital
infection, and exposure to radiation o r o th e r teratogens, such as m aternal anticoagula
tio n w ith w arfarin. It is c o m m o n ly fo u n d in the presence o f o th e r brain abnorm alities,
such as encephalocele o r holoprosencephaly.
Diagnosis
T h e diagnosis is m ade by the d em o n stratio n o f brain abnorm alities, such as h o lo p ro se n
cephaly. In cases w ith apparently isolated m icrocephaly, it is necessary to dem onstrate
progressive decrease in the h ea d -to -a b d o m e n circum ference ratio to b elo w th e 1st
centile w ith advancing gestation. Such a diagnosis m ay n o t be apparent before the third
trim ester. In m icrocephaly, th ere is a typical d isproportion b etw e e n the size o f the skull
and th e face. T h e brain is small, w ith the cerebral hem ispheres affected to a greater
ex ten t th an the m id -b rain and p o sterio r fossa.
11
Prognosis
T his depends o n th e u n d erly in g cause, b u t in m ore than 50% o f cases there is severe
m ental retardation.
MEGALENCEPHALY
M egalencephaly m eans large h ead and brain.
Prevalence
M egalencephaly is a very rare abnorm ality.
Etiology
T his is usually familial w ith n o adverse consequence. H o w ev e r, it m ay also be the c o n
sequence o f genetic syndrom es, such as B eckw ith—W ied e m a n n syndrom e, ac h o n d ro
plasia, neurofibrom atosis, and tuberous sclerosis. U nilateral m egalencephaly is a
sporadic co n d itio n .
Diagnosis
T h e diagnosis is m ade by the d em onstration o f a h e a d -to -a b d o m en circum ference ratio
above the 9 9 th centile w ith o u t evidence o f hydrocephalus o r intracranial masses.
U nilateral m egalencephaly is characterized by m acrocrania, a shift in the m id-line
ech o , b o rd erlin e enlarg em en t o f the lateral ventricle and atypical gyri o f the affected
hem isphere.
Prognosis
Isolated m egalencephaly is usually an asym ptom atic co n d itio n . U nilateral m egal
encephaly is associated w ith severe m ental retardation and untreatable seizures.
D E STR U C TIV E CEREBRAL LESIONS

T hese lesions include hydranencephaly, porencephaly and schizencephaly. In hydran-
encephaly, there is absence o f the cerebral hem ispheres w ith preservation o f the
m id -b rain and cerebellum . In porencephaly, there are cystic cavities w ith in the brain that
usually co m m u n icate w ith th e ventricular system, the subarachnoid space o r b o th .
Schizencephaly is associated w ith clefts in the fetal brain co n n ec tin g the lateral ventricles
w ith th e subarachnoid space.
12
Prevalence
D estructive cerebral lesions are fo u n d in ab o u t 1 p er 10 000 births.
Etiology
H y d ranencephaly is a sporadic abnorm ality that m ay result fro m w idespread vascular
occlusion in the distrib u tio n o f the internal carotid arteries, p ro lo n g ed severe h y d ro
cephalus, o r an o v erw h elm in g infection such as toxoplasm osis o r cytom egalovirus.
P oren cep h aly m ay be caused by infarction o f the cerebral arteries o r h em o rrh ag e into
the brain parenchym a. Schizencephaly m a y b e a prim ary disorder o f brain dev elo p m en t
o r it m ay be due to bilateral occlusion o f the m iddle cerebral arteries.
Diagnosis
C o m p lete absence o f echoes from the an terio r and m iddle fossae distinguishes
hydranencephaly fro m severe hydrocephalus in w h ic h a thin rim o f rem aining cortex
and th e m id -lin e echo can always be identified. In porencephaly, there are one o r m ore
cystic areas in th e cerebral co rtex, w h ich usually com m unicates w ith the ventricle; the
differential diagnosis is from intracranial cysts (arachnoid, glyo-ependym al), that are
usually fo u n d eith er w ith m the scissurae o r in the m id-line and com press the brain. In
schizencephaly, there are bilateral clefts ex ten d in g from the lateral ventricles to the
subarachnoid space. S chizencephaly is usually associated w ith absence o f the cavum
septum pellucidum .
Prognosis
H ydran en cep h aly is usually incom patible w ith survival b ey o n d early infancy. T h e
prognosis in p o ren cep h aly is related to the size and location o f the lesion and, although
there is increased risk o f im paired n e u ro d e v elo p m en t in som e cases, d ev elo p m en t
is norm al. S chizencephaly is associated w ith severe neu ro d ev elo p m en tal delay and
seizures.
C H O R O ID PLEXUS CYSTS
T hese cysts, w h ic h are usually bilateral, are in the ch o ro id plexuses o f the lateral cerebral
ventricles.
Prevalence
C h o ro id plexus cysts are fo u n d in ab o u t 2% o f fetuses at 20 w eeks o f gestation, b u t in
m o re than 90% o f cases th ey resolve by 26 w eeks.
13
Etiology
T h e c h o ro id plexus is easily visualized from 10 w eeks o f gestation w h e n it occupies
alm ost the entire hem isphere. T h ereafter and until 26 w eeks, there is a rapid decrease in
b o th th e size o f the ch o ro id plexus and o f the lateral cerebral ventricle in relation to the
hem isphere. C h o ro id plexus cysts co ntain cerebrospinal fluid and cellular debris.
Diagnosis
T h e diagnosis is m ade by th e presence o f single o r m ultiple cystic areas (greater than
2 m m in diam eter) in o n e o r b o th ch o ro id plexuses.
Prognosis
T h e y are usually o f n o pathological significance, b u t they are associated w ith an
increased risk for trisom y 18 and possibly trisom y 21. In the absence o f o th e r m arkers o f
trisom y 18, th e m aternal age-related risk is increased by a factor o f 1.5 (see A p pendix I).
V EIN OF GALEN ANEURYSM

T his is a m id -lin e aneurysm al dilatation o f the vein o f G alen due to an arteriovenous
m alform ation w ith m ajor hem o dynam ic disturbances.
Prevalence
V ein o f G alen aneurysm is a very rare abnorm ality.
Etiology
V ein o f G alen aneurysm is a sporadic abnorm ality.
Diagnosis
T h e diagnosis is m ade by the d em onstration o f a supratentorial m id -lin e translucent
elongated cyst. C o lo r D o p p le r dem onstrates active arteriovenous flow w ith in the cyst.
T h e re m ay be associated evidence o f h ig h -o u tp u t heart failure.
Prognosis
In th e n eonatal p eriod, ab o u t 50% o f the infants present w ith heart failure and the rest
are asym ptom atic. In later life, hydrocephalus and intracranial h em o rrh ag e m ay
develop. G o o d results can be achieved by catheterization and em bolization o f the
m alform ation.
14
Transcerebellar plane
Figure 2 N o rm a l brain
Normal fetal skull
■ ---------------1
A nencephaly Frontal bossing
13 w eeks 18 w eeks Cephalocele (spina bifida)
Figure 3 A nen cep h aly and cephalocele
15
Normal spine
Sacral spina bifida
Figure 4 Spina bifida
Normal transventricular view
I----------------------- ----------1
Borderline ventriculomegaly Hydrocephalus
Figure 5 V entriculom egaly and hydrocephalus
16
Figure 6 H oloprosencephaly
17
DI AGNOS IS OF FETAL ABN ORM ALITIES: T H E 18-23-W EEK SCAN
CD
Normal transcerebellar view
Abnorm alities of posterior fossa

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03
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03
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18
Face
T h e forehead, orbits, nose, lips and ears can be consistently identified fro m 12 w eeks o f
gestation. Sagittal, transverse and coronal planes are all useful for the evaluation o f
norm al and abnorm al anatom y. A m id-sagittal plane allows visualization o f th e fetal
profile (see Figure 8, p. 23), w hereas the ears are visualized in parasagittal scans tan g en
tial to the calvarium . A series o f transverse scans from the to p o f the head m o ving
caudally allows ex am in atio n o f the forehead, nasal b n d g e, orbits, nose, u p p er lip and
an terio r palate, th e to n g u e w ith in the oral cavity, lo w er lip and m andible. T h e presence
and size o f th e eyes are assessed subjectively, b u t, in cases o f suspected defects, m easure
m e n t o f th e in tern al and external orbital diam eters m ay be necessary. T h e internal
orbital d iam eter is approxim ately o n e -th ird o f the external orbital diam eter. T h e c o ro
nal planes are p robably the m ost im p o rtan t ones in the evaluation o f the integrity o f
facial anatom y (see Figure 9, p. 24). O rbits, eyelids, nose and lips are w ell visualized.
T h e tip o f th e nose, th e alae nasi, and the colum na are seen above the u p p er lip. T h e
nostrils typically appear as tw o small anechoic areas. T h e re is a close relation b etw een
the d ev elo p m en t o f th e m id -lin e facial structures (forehead, nose, interorbital structures
and u p p e r lip) and the differentiation process o f the forebrain. T h erefo re, m id-line
defects o f th e face are frequently associated w ith cerebral anom alies, m ainly
holoprosencephaly.
O RBITAL DEFECTS
H ypertelorism (euryopia)
In early d e v elo p m en t, th e eyes are placed laterally in the prim itive face in a fashion sim i
lar to that o flo w e r anim als w ith panoram ic vision. As gestation progresses, th ey m igrate
to w ard th e m id -lin e, creating favorable conditions for the d ev elo p m en t o f stereoscopic
vision. H y p ertelo rism is an increased in terorbital distance and this can be eith er an iso
lated finding o r associated w ith m any clinical syndrom es o r m alform ations. T h e m ost
c o m m o n syndrom es w ith h ypertelorism are the m edian cleft syndrom e (hypertelorism ,
19
m edian cleft lip w ith o r w ith o u t a m edian cleft o f the hard palate and nose, and cranium
bifid u m occu ltu m ), craniosynostoses (including A pert, C ro u z o n , and C arp en te r
syndrom es), agenesis o f th e corpus callosum and an terio r encephaloceles. H y p e r
telorism per se results only in cosm etic problem s and possible im p airm en t o f stereo
scopic b in o cu lar vision. F o r severe cases, a n u m b e r o f operative procedures, such as
canthoplasty, orbitoplasty, surgical p o sitio n in g o f the eyebrow s, and rhinoplasty, have
b een proposed. T h e m edian cleft face syndrom e is usually associated w ith norm al
intelligence and life span. H o w e v e r, there is a high likelihood o f m ental retardation
w h e n eith er extracephalic anom alies o r an ex trem e degree o f hypertelorism are found.
T h e severity o f th e cosm etic disturbance should n o t be underestim ated, because this
syndrom e m ay be associated w ith extrem ely grotesque features.
H ypotelorism (stenopia)
H y p o telo rism (decreased in tero rbital distance) is alm ost always fo u n d in association
w ith o th e r severe anom alies, such as holoprosencephaly, trigonocephaly, m icro
cephaly, M eckel synd ro m e, an d chrom osom al abnorm alities. T h e prognosis, w h ich
depends o n th e associated anom alies, is usually very poor.
M icrophthalm ia/anophthalm ia
M icro p h th alm ia is defined as a decreased size o f th e eyeball and anophthalm ia refers to
th e absence o f th e eye; h o w ev er, the term anophthalm ia should be reserved for the
pathologist, w h o m ust dem onstrate n o t only absence o f the eye b u t also o f optic nerves,
chiasm a, and tracts. M ic ro p h th alm ia /a n o p h th a lm ia, w h ich is eith er unilateral o r
bilateral, is usually associated w ith one o f ab o u t 25 genetic syndrom es. In G o ld en h ar
syndrom e (found in a b o u t 1 p er 5000 births), there is unilateral anophthalm ia, to g e th er
w ith ear and facial abnorm alities. P renatal diagnosis is based o n the dem o n stratio n o f
decreased ocular d iam eter, and careful exam ination o f the intraorbital anatom y is in d i
cated to identify lens, p u p il and optic nerve. C o n g en ital m icrophthalm ia is freq u en d y
associated w ith visual disorders and w ith o th e r anom alies.
Dacrocystocele
C o n g en ital o b stru ctio n o f th e nasolacrim al d u ct results in cystic dilatation o f the p ro x i
mal part o f th e duct. D acrocystocele has b ee n identified prenatally as a h y p oechogenic
mass inferior to the globe. T h e differential diagnosis includes an terio r encephaloceles
(they are often associated w ith intracranial abnorm alities such as hydrocephalus),
hem angiom as (they are usually solid o r m ultiseptated), and d erm o id cysts (these are
usually located superolaterally). Postnatally, dacrocystoceles resolve spontaneously in
ab o u t 90% o f cases w ith in th e first 6 m onths o f life.
20
FACE
FACIAL CLEFT
T his te rm refers to a w ide spectrum o f clefting defects (unilateral, bilateral and, less
co m m o n ly , m id-line), usually involving th e u p p e r lip, the palate, o r b o th . C left
palate w ith o u t cleft lip is a distinct disorder. Facial clefts encom pass a broad spectrum o f
severity, ranging fro m m inim al defects, such as a bifid uvula, linear in d en tatio n o f the
lip, o r su bm ucous cleft o f th e soft palate, to large deep defects o f the facial bones and soft
tissues. T h e typical cleft lip w ill appear as a lin ear defect ex ten d in g fro m o n e side o f the
lip in to th e nostril. C left palate associated w ith cleft lip m ay ex ten d th ro u g h the alveolar
ridge and hard palate, reaching the floor o f th e nasal cavity o r even the floor o f the orbit.
Isolated cleft palate m ay include defects o f the hard palate, the soft palate, o r bo th . B o th
cleft lip and palate are unilateral in ab o u t 75% o f cases and the left side is m ore often
inv o lv ed than th e right side.
Prevalence
Facial clefting is fo u n d in ab o u t 1 p e r 800 births. In a b o u t 50% o f cases, b o th the lip and
palate are defective, in 25% only the lip and in 25% only the palate is involved.
Etiology
T h e face is fo rm ed b y th e fusion o f four o u tg ro w th s o f m esenchym e (frontonasal,
m andibular and paired m axillary swellings) and facial clefting is caused by failure o f
fusion o f these swellings. C left lip, w ith o r w ith o u t cleft palate, is usually (m ore than
80% o f cases) an isolated co n d itio n , b ut, in 20% o f cases, it is associated w ith one o f
m o re than 100 genetic syndrom es. Isolated cleft palate is a different co n d itio n and it is
m o re co m m o n ly associated w ith any one o f m o re th a n 200 genetic syndrom es. All
form s o f in h eritan ce have b een described, in clu d in g autosom al do m in an t, autosom al
recessive, X -lin k e d d o m in a n t and X -lin k e d recessive. A ssociated anom alies are fo u n d
in ab o u t 50% o f patients w ith isolated cleft palate and in ab o u t 15% o f those w ith cleft
lip and palate. C h ro m o so m al abnorm alities (m ainly trisom ies 13 and 18) are fo u n d in
1—2% o f cases, and exposure to teratogens (such as antiepileptic drugs) in a b o u t 5% o f
cases. R e c u rre n c es are type-specific; if the in d ex case has cleft lip and palate, th ere is no
increased risk for isolated cleft palate, and vice versa. M edian cleft lip, w h ic h accounts
for ab o u t 0.5% o f all cases o f cleft lip, is usually associated w ith holoprosencephaly o r the
oral—facial—digital syndrom e.
21
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E E K SC A N
Diagnosis
T h e sonographic diagnosis o f cleft and palate depends o n dem o n stratio n o f a groove
ex ten d in g fro m one o f the nostrils inside the lip and possibly the alveolar ridge. B o th
transverse an d coronal planes can be used. T h e diagnosis o f isolated cleft palate is diffi
cult and, in cases at risk for M endelian syndrom es, fetoscopy m ay be necessary.
Prognosis
M inim al defects, such as linear indentations o f the lips o r subm ucosal cleft o f the soft
palate, m ay n o t require surgical co rrectio n . Larger defects cause cosm etic, sw allow ing
and respiratory problem s. R e c e n t advances in surgical techniques have p ro d u c e d g o o d
cosm etic and functional results. H o w e v e r, prognosis depends prim arily o n the presence
and type o f associated anom alies.
M IC R O G N A TH IA
M icro g n ath ia is characterized by m andibular hypoplasia causing a receding chin.
Prevalence
M icro g n ath ia is fo u n d in ab o u t 1 per 1000 births.
Etiology
M icro g n ath ia is usually associated w ith genetic syndrom es (such as T re a c h er C ollins,
R o b in and R o b e rt syndrom es), chrom osom al abnorm alities (m ainly trisom y 18 and
tnploidy) and teratogenic drugs (such as m ethotrexate). T h e R o b in anom alad (severe
m icrognathia, glossoptosis an d a p o sterio r cleft palate o r an arched palate) m ay be a
sporadic isolated finding (in ab o u t 40% o f cases) or it m ay be associated w ith o th e r
anom alies o r w ith recognized genetic and n o n -g en e tic syndrom es. O to c ep h a ly is a
rare, lethal, sporadic abnorm ality characterized by severe hypoplasia o f th e m andible
(agnathia) and severe m id -lin e defects, including holoprosencephaly, a n terio r en cep h a
locele, cyclopia, aglossia, m icrostom ia, and m id-facial location o f the ears (‘e a r-h e ad ’).
Diagnosis
M icro g n ath ia is a subjective finding in the m id-sagittal view o f the face and is character
ized by a p ro m in e n t u p p er lip an d receding chin. T h e diagnosis can be confirm ed by the
dem o n stratio n o f a short m andible. Severe m icrognathia is associated w ith poly
hydram nios, possibly because o f the glossoptosis prev en tin g sw allow ing.
22
FACE
Prognosis
T his depends o n th e presence o f associated anom alies. Severe m icrognathia can be a
neonatal em erg en cy d u e to airw ay o b struction by the to n g u e in the small oral cavity. If
prenatal diagnosis is m ade, a pediatrician should be present in the delivery ro o m and be
prepared to in tu b ate th e infant. O to cep h aly is lethal.
N o rm a l lips
U n ila teral B ila teral M e d ian

c le ft lip c le ft lip c le ft lip
Figure 8 Facial cleft
23
DIA GNOSIS OF FETAL ABN ORM ALITIES: T H E 1 8-23-W E EK SCAN
Normal facial
24
4
Cardiovascular system
Philippe Jea n ty and Gianluigi Pilu
A bnorm alities o f th e h eart and great arteries are the m ost co m m o n congenital ab nor
malities. In general, ab o u t h a lf are either lethal o r require surgery and h a lf are asym p
tom atic. T h e first tw o groups are referred to as m ajor.
Prevalence
C ardiovascular abnorm alities are fo u n d in 5—10 p er 1000 live births and in ab o u t 30 per
1000 stillbirths.
Etiology
T h e etiology o f h eart defects is hetero g en eo u s and probably depends o n the interplay o f
m ultiple genetic and en v iro n m en tal factors, in clu d in g m aternal diabetes m ellitus or
collagen disease, exposure to drugs such as lithium , and viral infections such as rubella.
Specific m u tan t gene defects and chrom osom al abnorm alities acco u n t for less th an 5%
o f th e patients. H e a rt defects are fo u n d in m o re th an 90% o f fetuses w ith trisom y 18 o r
13, 50% o f those w ith trisom y 21, and 40% o f those w ith T u rn e r syndrom e, deletions or
partial trisom ies inv o lv in g a variety o f chrom osom es.
Recurrence
W h e n a previous sibling has had a congenital heart defect, in the absence o f a k n o w n
genetic syndrom e, th e risk o f recu rren ce is ab o u t 2%, and w ith tw o affected siblings the
risk is 10%. W h e n th e father is affected, the risk for the offspring is ab o u t 2% and if the
m o th e r is affected th e risk is ab o u t 10%.
R eliability o f prenatal diagnosis

E chocard io g rap h y has b e e n successfully applied to the prenatal assessment o f fetal
cardiac fu n ctio n and structure, and has led to the diagnosis o f m ost cardiac abnorm ali
ties. Studies from specialist centers rep o rt the diagnosis o f a b o u t 90% o f defects.
25
H o w e v e r, th e m ajority o f such studies refer to the prenatal diagnosis o f m oderate to

m ajor defects in h igh-risk populations.
Screening fo r cardiac abnormalities

T h e m ain challenge in prenatal diagnosis is to identify the high-risk group for referral to
specialist centers. T h e indications in clude congenital cardiac defects in o n e o f the
parents o r previous pregnancies, m aternal diabetes m ellitus o r injestion o f teratogenic
drugs. H o w e v e r, m o re than 90% o f fetuses w ith cardiac defects are from families w ith
o u t such risk factors. A h igher sensitivity is achieved by exam ination o f the fo u r-
ch am b er view o f the heart at the ro u tin e 2 0 -w e ek scan; screening studies have rep o rted
th e d etectio n o f ab o u t 30% o f m ajor cardiac defects. R e c e n t evidence suggests that a
hig h er sensitivity (m ore than 50%) can be achieved by referral for specialist e ch o
cardiography o f patients w ith increased nuchal translucency at 10—14 weeks.
ASSESSM ENT OF THE FETAL H EART

R eal-tim e two-dim ensional evaluation
T h e h eart can be observed in an infinity o f planes, b u t a few sections are the basis on
w h ic h m ost o f the diagnoses are m ade. T hese planes include the fou r-ch am b er, left
and rig h t cham bers and great vessel view s. A lth o u g h it is co n v e n ien t to refer to these
standardized view s for descriptive purposes, in practice it m ay be difficult to rep ro d u ce
these exact sections, and th e o p erato r should be fam iliar w ith small variations o f these
planes.
C o m p lex cardiac anom alies are frequently associated w ith an abnorm al disposition
o f th e h eart an d extracardiac viscera. Fetal echocardiography should always include an
assessment o f topographic anatom y o f the abd o m en and chest. T h e left and right sides
are assessed b y d eterm in in g th e relative position o f the head and spine. T h e visceral situs
is th e n assessed b y dem o n stratin g the relative position o f the stom ach, hepatic vessels,
abdom inal aorta and in ferio r vena cava.
A transverse section o f th e thorax reveals the fo u r-c h am b er v iew o f the fetal heart
(see Figure 10, p. 49). T h e h eart occupies approxim ately o n e -th ird o f the thorax, and,
in this view , the no rm al ventricles, atria, atrioventricular valves, ventricular and atrial
septae, foram en ovale flap and pulm o n ary venous co n n ectio n s can be identified. T h e
thicknesses o f the in terv en tricu lar septum and o f the free ven tricu lar walls are the same.
T h e heart is n o t m id -lin e b u t shifted to the left side o f the chest. T h e axis o f the
in terv en tricu lar sep tu m is ab o u t 4 5 -2 0 ° to the left o f the an tero p o sterio r axis o f the
fetus. T h e interatrial sep tu m is o p en at the level o f th e foram en ovale. T h e foram en ovale
26
C A R D IO V A S C U L A R SYSTEM
flap is visible in th e left atrium , b eatin g to w ard the left side. T h e in sertion o f the
tricuspid valve along th e in terv en tricu lar septum is m o re apical th an the insertion o f the
m itral valve. T h e co nfluence o f the pulm o n ary veins in to the left atriu m serves to id e n
tify it as such. A b o u t 90% o f ultrasonographically detectable fetal cardiac defects
d em onstrate som e abnorm alities in this view .
E valuation o f the cardiac o u tflo w tracts can be difficult, b u t it is im p o rtan t to

attem pt such an exam ination because this im proves the d etec tio n rate o f m any ab n o r
malities o f the heart and great arteries. T h e o u tflo w tracts and great arteries can be
d em onstrated by slight angulations o f the transducer from the fo u r-ch a m b er v iew (see
Figure 11, p. 50). B y tu rn in g th e transducer w hile k eeping the left ventricle and the
aorta in the same plane, o n e can obtain the left heart view s, w hile the right heart views
are o b tain ed by m o v in g the transducer craniad and tilting slightly in the direction o f the
left shoulder. T h e view s o f th e left h eart dem onstrate the left ventricle and aortic o u t
flow tract. T h e an terio r w all o f the aorta is in co n tin u ity w ith the in terv en tricu lar
septum . T h e view s o f the rig h t heart dem onstrate the right ventricle and the right v e n
tricular o u tflo w tract. T h e m ain p u lm o n ary artery originates fro m the an terio r ventricle
and trifurcates in to a large vessel, the ductus going in to the descending aorta, and tw o
small vessels, the p u lm o n ary arteries
T h e re are tw o arches in the fetus (aortic arch and curve o f the ductus) and they
should be distinguished. T h e brachiocephalic vessels originate from the aortic arch,
w hile n o vessels em anate fro m the ductus. F u rth erm o re, the curve o f the aortic arch is
gentler than that o f the ductus, w h ic h is slightly m o re angular. T h e cavae can be seen in
a longitudinal v iew as they b o th e n te r the right atrium .
M -m ode
H eart rate and rh y th m are assessed subjectively. M -m o d e , w h ic h is n o t used routinely,
is useful for the evaluation o f abnorm al cases. In M -m o d e ultrasound, one line o f infor
m atio n only is co n tin u o u sly displayed; instead o f a tw o -d im en sio n al scan o f the heart, a
reco rd in g o f the variations o f echoes along a single line is p roduced. T h u s, M -m o d e is
o f little help in th e analysis o f the m o rp h o lo g y o f the heart b u t is useful in assessing
m otions and rhythm s. O n e sim ply ‘drops’ an M -m o d e line o v er o n e atrial and v en tricu
lar wall. T his allows o n e to q u antitate cardiac frequency, and to infer the atrio
ventricular sequence o f contractions.
Pulsed wave and color D oppler

C o lo r D o p p le r overlays a rep resentation o f flow velocity ov e r a co nventional gray-scale
im age. T his allows a rapid reco g n itio n o f the flow pattern. C o lo r D o p p le r is useful to
27
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 1 8 -2 3 -W EEK SCAN
assess norm al anatom y and physiology, valvular regurgitation o r stenosis, shunting and
th e o rien tatio n o f flows. Pulsed w ave D o p p le r is used to analyze th e spectral shift (to
assess the resistance in a vessel), to obtain flo w velocities (how the resistance affects the
flow ), and flo w predictions (to estim ate the perfusion). Pulsed D o p p le r ultrasound, in
co m b in atio n w ith tw o -d im en sional and M -m o d e sonography, has p ro v e d useful in the
evaluation o f b o th fetal dysrhythm ias and structural anom alies. Pulsed D o p p le r can be
useful in the d etectio n and assessment o f the severity o f valvar abnorm alities (stenosis,
insufficiency). Analysis o f atrioventricular inflow s, hepatic veins and in ferio r vena cava
can also be used to assess cardiac rhythm .
ATRIAL SEPTAL DEFECTS

M o st atrial septal defects involve eith er the septum primum (the p o rtio n o f the atrial
septum b e lo w the foram en ovale) o r the septum secundum (the p o rtio n above the fora
m e n ovale). Primum atrial septal defect is the sim plest fo rm o f the atrioventricular septal
defects (see below ). Secundum atrial septal defects, w h ich are the m ost co m m o n , are
usually isolated, b u t m ay be related to o th e r cardiac lesions (such as m itral, pulm onary,
tricuspid o r aortic atresia) and are occasionally fo u n d as part o f syndrom es (including
H o lt- O r a m syndrom e in w h ich there is hypo-aplasia o f the th u m b and radius,
triphalangeal th u m b , abrachia, and phocom elia).
Prevalence
S ecu n d u m atrial septal defects, w h ic h represent about 10% o f congenital heart defects,
are fo u n d in ab o u t 1 p er 3000 births.
Diagnosis
A lth o u g h th e in utero identification o f secundum atrial septal defect has b een rep o rted ,
th e diagnosis rem ains difficult because o f the physiological presence o f th e foram en
ovale and only unusually large defects can be recognized w ith certainty.
Prognosis
A trial septal defects are n o t a cause o f im p a irm en t o f cardiac fu n ctio n in utero, as a large
rig h t-to -le ft sh u n t at th e level o f the atria is a physiological co n d itio n in the fetus. M ost
affected babies are asym ptom atic, even in the neonatal period.
V EN TR IC U LA R SEPTAL DEFECTS
D efects in th e v en tricu lar sep tu m are e ith er isolated (about 50%) o r th ey are part o f
a com plex heart defect. T h e y are classified in to perim em b ran o u s, inlet, trabecular or
28
ou tlet defects, d e p en d in g o n th e ir location o n the septum . Perimembranous defects (80%)

involve the m em b ran o u s sep tu m b elo w the aortic valve, b u t also ex ten d in variable
degrees in to th e adjacent p o rtio n o f the septum . T h e inlet defects are o n th e inflow tract
o f the rig h t v entricle an d thus affect the im plantation o f the septal chordae o f the
tricuspid valve. T h e trabecular defects o c cu r in th e m uscular p o rtio n o f the septum , and
th e outlet defects are in th e in fundibular p o rtio n o f the right ventricle.
Prevalence
V entricular septal defects, w h ic h represent 30% o f all congenital heart defects, are fo u n d
in ab o u t 2 p e r 1000 births.
Diagnosis
E chocardiographic diagnosis depends o n th e d em onstration o f a d ro p o u t o f echoes in
th e v entricular septum . Since m ost v en tricular septal defects are perim em b ran o u s and
subaortic, a detailed v iew o f th e left o u tflo w tract is the best pictu re to im age them .
W h ile evaluating th e v en tricu lar septum in search o f defects, m ultiple view s should be
used. P erim em b ran o u s defects w ill be best d em onstrated by the fo u r-c h am b e r view .
M uscular defects (w hich are difficult to detect) are best searched for in the short-axis
v iew by trying to d em o n strate a c o n n e ctio n b etw e e n the tw o ventricles. O verall, small
isolated v en tricu lar septal defects are difficult to detect prenatally, and b o th false-
positive and false-negative diagnoses have b een m ade. Because o f th eir position, o u tlet
defects are n o t o n ly b en eath th e aortic valve b u t also the pu lm o n ary valve. T h e y are the
type associated w ith tetralogy o f Fallot. T rab ecu lar defects have n o t b een detected by
prenatal u ltraso u n d because th e y are usually com posed o f small orifices.
Prognosis
V entricular septal defects are n o t associated w ith hem odynam ic com prom ise in utero
because th e rig h t and left ven tricular pressures are believed to be equal. M o re than 90%
o f small defects close spontaneously w ith in th e first year o f life. Large defects present
w ith congestive h eart failure at 2—8 w eeks o f life and require m edical treatm en t
(digoxin and diuretics). R a re ly , very large defects, associated w ith massive left-to -rig h t
shunt, can be associated w ith congestive heart failure soon after birth. I f m edical treat
m e n t fails, surgical closure is un d ertak en ; survival from surgery is m o re th an 90% and
survivors have a norm al life expectancy and norm al exercise tolerance.
A T R IO V E N T R IC U L A R SEPTAL DEFECTS
T h e ontogenesis o f the apical p o rtio n o f the atrial septum , o f the basal p o rtio n o f the
in terv en tricu lar sep tu m and o f the atrioventricular valves depends o n d ev elo p m en t o f
29
m esenchym al masses (endocardial cushions). A b norm al dev elo p m en t o f these struc

tures is c o m m o n ly referred to as endocardial cushion defects, atrioventricular canal o r
atrioventricular septal defects. In the com plete form , persistent common atrioventricular
canal, the tricuspid and m itral valve are fused in a large, single atrioventricular valve that
opens above and bridges the tw o ventricles. In the com plete form o f atrioventricular
canal, th e c o m m o n atrio v en tricular valve m ay be in c o m p ete n t, and systolic b lo o d
reg u rg itatio n fro m th e ventricles to the atria m ay give rise to congestive heart failure.
Prevalence
A trio v en tricu lar septal defects, w h ich represent ab o u t 7% o f all congenital heart defects,
are fo u n d in ab o u t 1 p e r 3000 births.
Diagnosis
A ntenatal echocardiographic diagnosis o f co m p lete atrioventricular septal defects is
usually easy. A n obvious deficiency o f the central core structures o f the heart is present.
C o lo r D o p p le r u ltrasound can be useful, in th at it facilitates the visualization o f the
central o p e n in g o f th e single atrioventricular valve. T h e atria m ay be dilated as a conse
quence o f atrioventricular insufficiency. In such cases, co lor and pulsed D o p p le r ultra
sound allow o n e to identify the regurgitant je t. T h e inco m p lete form s are m ore difficult
to recognize. A useful h in t is the dem o n stratio n th at the tricuspid and m itral valves
attach at th e same level at th e crest o f the septum . T his apical displacem ent o f th e m itral
valve elongates th e left ven tricu lar ou tflo w tract. T h e atrial septal defect is o f the ostium
p rim u m type (since th e septum secundum is n o t affected) and thus is close to the crest o f
th e in terv en tricu lar septum .
Prognosis
A trio v en tricu lar septal defects w ill usually be e n c o u n te re d eith er in fetuses w ith
chrom osom al aberrations (50% o f cases are associated w ith aneuploidy, 60% being
tn so m y 21, 25% trisom y 18) o r in fetuses w ith cardiosplenic syndrom es. In the form er
cases, an atrioventricular septal defect is frequently fo u n d in association w ith
extracardiac anom alies. In th e latter cases, m ultiple cardiac anom alies and abnorm al dis
position o f the abdom inal organs are alm ost the rule.
A trio v en tricu lar septal defects do n o t im pair the fetal circulation per se. H o w ev er,
the presence o f atrio v en tricu lar valve insufficiency may lead to in trau terin e heart
failure. T h e prognosis o f atrio v entricular septal defects is p o o r w h en detected in utero,
probably because o f th e high frequency o f associated anom alies in antenatal series.
A b o u t 50% o f u n tre a te d infants die w ith in the 1st year o f life from heart failure,
arrhythm ias and p u lm o n ary hypertension due to rig h t-to -le ft sh u n tin g (E isenm enger
30
syndrom e). Survival after surgical closure (w hich is usually carried o u t in the 6 th m o n th
o f life) is m o re than 90%, b u t in ab o u t 10% o f patients a second o p eratio n for
atrioventricular valve repair o r replacem ent is necessary. L o n g -te rm prognosis is good.
CARDIOSPLENIC SY N D R O M ES
In cardiosplenic syndrom es, also referred to as heterotaxy, the fetus is m ade o f either
tw o left o r tw o right sides. O th e r term s co m m o n ly used include left o r right isom erism ,
asplenia and polysplenia. U n p a ired organs (liver, stom ach and spleen) m ay be absent,
m id -lin e o r duplicated. Because o f left atrial isom erism (and thus absence o f the right
atrium , w h ich is the norm al lo cation for the pacem aker) and abnorm al atrioventricular
ju n c tio n s, atrioventricular blocks are very c o m m o n .
Prevalence
C ardiosplenic syndrom es, w h ic h represent ab o u t 2% o f all congenital heart defects, are
fo u n d in about 1 in 10 000 births.
Polysplenia
In polysplenia, th e fetus has tw o left sides (one in norm al position and the o th e r as a
m irro r im age); this is called left isom erism . M ultiple small spleens (usually to o small to
be d etected by antenatal ultrasound) are fo u n d p o sterio r to the stom ach. T h e liver is
m id -lin e and sym m etric, b u t the stom ach and aorta can be on opposite sides. Cardiac
anom alies are alm ost invariably present, in clu d in g anom alous p u lm o n ary venous
re tu rn , atrioventricular canal, and obstructive lesions o f the aortic valve. O n e typical
and peculiar finding is th e in te rru p tio n o f the in ferio r vena cava, w ith the lo w e r p o rtio n
o f th e b o d y drained by th e azygos vein.
E valuation o f th e disposition o f th e abdom inal organs is o f special value fo r the

sonographic diagnosis o f fetal cardiosplenic syndrom es. In norm al fetuses, a transverse
section o f th e ab d o m en dem onstrates th e aorta o n the left side and the inferior vena cava
o n the right; the stom ach is to the left and the portal sinus o f the liver bends to th e right,
tow ards th e gallbladder. In polysplenia, a typical finding is in terru p tio n o f th e inferior
vena cava w ith azygous c o n tin u atio n (there is failure to visualize the in ferio r vena cava
and a large venous vessel, th e azygos v ein, runs to the left and close to the spine and
ascends in to the u p p er thorax). S ym m etry o f the liver can be sonographically reco g
nized in utero by th e abnorm al course o f the portal circulation that does n o t display a
clearly defined portal sinus b e n d in g to the right.
31
T h e h etero g en eo u s cardiac anom alies fo u n d in association w ith polysplenia are

usually easily seen, b u t a detailed diagnosis often poses a challenge; in particular, assess
m e n t o f a co n n e c tio n b e tw e e n the pulm o n ary veins and the atriu m (an elem en t that has
a m ajor prognostic influence) can be extrem ely difficult. A ssociated anom alies include
absence o f th e gallbladder, m alrotation o f the guts, duodenal atresia and hydrops.
A splenia
In asplenia, th e fetus has tw o rig ht sides (right isom erism ). As in polysplenia, evaluation
o f th e disposition o f th e abdom inal organs is a m ajor clue to the diagnosis. T h e liver is
generally m id -lin e and th e stom ach rig h t- o r left-sided. T h e aorta and cava are o n the
same side (either left o r right) o f the spine. T h e spleen can n o t be seen and the stom ach is
fo u n d in close co n tact w ith th e thoracic wall. C ardiac m alform ations are severe, w ith a
ten d en cy tow ards a single stru cture replacing norm al paired structures, for exam ple,
single atrium , single atrioventricular valve, single ventricle and single great vessel, and
are usually easily dem onstrated.
Diagnosis
C ardiosplenic syndrom es m ay be inferred by the abnorm al disposition o f the abdom inal
organs. T h e presence o f co m p lex cardiac abnorm alities is alm ost th e rule.
Prognosis
T h e o u tc o m e depends o n th e severity o f cardiac anom alies, b u t it tends to be poor.
A trio v en tricu lar insufficiency and severe fetal bradycardia due to atrioventricular block
m ay lead to in trau terin e heart failure.
U N IV E N T R IC U L A R HEART
T his te rm defines a g ro u p o f anom alies characterized by the presence o f an a trio
v en tricu lar ju n c tio n that is entirely co n n e cte d to only o n e ch am b er in the ventricular
mass. T h e re fo re, u n iv en tricu lar heart includes b o th those cases in w h ich tw o atrial
cham bers are co n n e c te d , by eith er tw o distinct atrioventricular valves o r by a c o m m o n
o n e, to a m ain v en tricu lar ch am ber (double-inlet single ventricle), as w ell as those cases in
w h ich , because o f the absence o f one atrioventricular co n n e c tio n (tricuspid o r m itral
atresia), o n e o f the v en tricu lar cham bers is either ru d im en tary o r absent.
Prevalence
U n iv e n tric u la r heart is rare; it represents about 1.5% o f all congenital cardiac defects.
32
Diagnosis
In d o u b le -o u tle t single v entricle, tw o separate atrioventricular valves are seen o p en in g
in to a single v en tricu lar cavity, w ith o u t evidence o f the in terventricular septum . In
m itral/tricu sp id atresia, th ere is only o n e atrioventricular valve co n n ec ted to a m ain
v entricular cham ber. A small rud im en tary ventricular cham ber, lacking an atrio
ventricular co n n e c tio n , is a freq u en t b u t n o t constant finding. D e m o n stratio n o f tw o
p aten t great arteries arising fro m the ventricle allows a differential diagnosis from
hypoplastic ventricles (hypoplastic left heart syndrom e, pulm o n ary atresia w ith intact
v entricular septum ).
Prognosis
Surgical tre a tm e n t (the F o n tan procedure) involves separation o f the systemic circula
tions by anastom osing th e superior and inferior vena cava directly to the pulm o n ary
artery. T h e survivors from this p ro ced u re often have lo n g -te rm com plications, in clu d
ing arrhythm ias, th ro m b u s fo rm atio n and p ro tein -lo sin g enteropathy. T h e 5-year
survival is ab o u t 70%.
A O R TIC STENO SIS

A ortic stenosis is c o m m o n ly divided in to supravalvar, valvar and subaortic forms.
Supravalvar aortic stenosis can be due to one o f three anatom ic defects: a m em brane
(usually placed above th e sinuses o f Valsalva), a localized narro w in g o f the ascending
aorta (hour-glass deform ity) o r a diffuse narro w in g involving the aortic arch and
b ran ch in g arteries (tubular variety). T h e valvar fo rm o f aortic stenosis can be due to
dysplastic, th ick en ed aortic cusps o r fusion o f the com m issure betw een the cusps. T h e
subaortic form s include a fixed type, representing the consequence o f a fibrous or
fibrom uscular obstru ctio n , an d a dynam ic type, w h ich is due to a th ick en ed ventricular
sep tu m o b stru ctin g the o u tflo w tract o f the left ventricle. T h e latter is also k n o w n
as asym m etric septal h y p ertro p h y o r idiopathic h y p ertrophic subaortic stenosis. A
transient fo rm o f dynam ic o b stru ctio n o f th e left o u tflo w tract is seen in infants o f
diabetic m o th ers, and is probably the co n sequence o f fetal hyperglycem ia and
hyperinsulinem ia.
Prevalence
A ortic stenosis, w h ic h represents 3% o f all congenital heart defects, is fo u n d in ab o u t 1
p e r 7000 births.
33
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E EK SCA N
Diagnosis
M o st cases o f m ild to m od erate aortic stenosis are probably n o t am enable to early p re
natal diagnosis. Severe valvar aortic stenosis o f the fetus is usually associated w ith a
h y p ertro p h ic left ventricle. W ith in the ascending aorta (that can be small o r enlarged),
pulsed D o p p le r dem onstrates increased peak velocity (usually in excess o f 1 m /s). A t
th e co lo r D o p p le r exam ination, high velocity and turb u len ce result in aliasing, w ith a
m osaic o f colors. Severe aortic stenosis m ay result in atrioventricular valve insufficiency
and in trau terin e heart failure. A sym m etric septal h y p e rtro p h y and h y p ertrophic
cardiom yopathy o f fetuses o f diabetic m o thers, resulting in subaortic stenosis, has been
occasionally diagnosed by d em o n stratin g an unusual thickness o f the ventricular
septum . W e are n o t aw are o f cases o f supravalvular aortic stenosis d etected in utero.
Prognosis
D e p e n d in g u p o n the severity o f the aortic stenosis, the association o f left ven tricu lar
pressure overload and subendocardial ischem ia, due to decrease in co ro n ary perfusion,
m ay lead to in trau terin e im p airm en t o f cardiac function. Subvalvular and subaortic
form s are n o t generally m anifested in the neonatal period. C onversely, the valvar type
can be a cause o f congestive heart failure in the n e w b o rn and fetus as w ell. A lth o u g h
th ere is co n cern that cases seen in early gestation m ay progress in severity, the lesion
usually rem ains stable. T h e neonatal o u tco m e depends o n the severity o f o b struction. If
the left v en tricu lar fu n ctio n is adequate, balloon valvoplasty is carried o u t in the n eo n a
tal p erio d and, in ab o u t 50% o f cases, surgery is necessary w ith in the first 10 years o f life
because o f aortic insufficiency o r residual stenosis. If left v en tricular fu n c tio n is inade
quate, a N o rw o o d -ty p e o f repair is necessary (see hypoplastic left heart).
Fetal therapy
A ntenatal transventricular balloon valvuloplasty has b een attem p ted in a handful o f
cases b u t the results are u ncertain.
C O A R C T A T IO N A N D TU BU LA R H YPO PLASIA OF THE

AORTA
C o arctatio n is a localized n arro w in g o f the ju x tad u c tal arch, m ost c o m m o n ly b etw een
th e left subclavian artery and the ductus. C ardiac anom alies are present in 90% o f the
cases and include aortic stenosis and insufficiency, ventricular septal defect, atrial septal
defect, transposition o f the great arteries, truncus and d o u b le -o u tle t right ventricle.
N o n -card iac anom alies include diaphragm atic hernia, T u rn e r syndrom e b u t n o t
N o o n a n syndrom e.
34
Diagnosis
C o arctatio n m ay be a postnatal event, and this lim its prenatal diagnosis in m any cases. It
should be suspected w h e n th e right ventricle is enlarged (right ventricle to left ventricle
ratio o f m o re than 1.3). N a rro w in g o f the isthm us, o r the presence o f a shelf, are often
difficult to d em onstrate because, in the fetus, aortic arch and ductal arch are close and
are difficult to distinguish. In m ost cases, coarctation can only be suspected in utero and a
certain diagnosis m ust be delayed until after birth.
Prognosis
C ritical coarctation is fatal in the neonatal p e rio d after closure o f the ductus and th e re
fore prostaglandin therapy is necessary to m aintain a p a ten t ductus. Surgery (w hich
involves excision o f the coarcted segm ent and e n d -to -e n d anastomosis) is associated
w ith a m ortality o f ab o u t 10% and the incidence o f re-stenosis in survivors (requiring
fu rth er surgical repair) is ab o u t 15%.
IN T E R R U PT E D A O RTIC A R C H
T h e in te rru p tio n o f th e aortic arch can be com plete o r th ere m ay be an atretic fibrous
segm ent b e tw e e n th e arch and the descending aorta. It m ay be isolated o r associated
w ith intracardiac lesions that cause o b stru ctio n to the b lo o d flow fro m the left heart
(aortic stenosis, aortic atresia, m alaligned ventricular septal defects). A ssociated extra-
cardiac anom alies are freq u en t and include D iG eo rg e syndrom e (association o f thym ic
aplasia, type B in te rru p tio n and hypoplastic m andible), holoprosencephaly, cleft
lip /p alate, esophageal atresia, duplicated stom ach, diaphragm atic hernia, horseshoe
kidneys, bilateral renal agenesis, oligodactyly, claw han d and syrenom elia.
Diagnosis
In te rru p te d aortic arch should always be considered w h e n intracardiac lesions diverting
b lo o d flow from the left to th e right heart are e n c o u n te re d (aortic stenosis and atresia in
particular). Isolated in te rru p tio n o f the aortic arch is often e n c o u n te re d w ith enlarge
m e n t o f the right ventricle (right ventricle to left ventricle ratio o f m ore than 1.3). As
th e sonographic access to th e arch is difficult, the diagnosis is n o t always possible. T h e
characteristic finding o f an ascending aorta m ore vertical th an usually, and the im poss
ibility to dem onstrate a c o n n e ctio n w ith the descending aorta, suggest the diagnosis.
35
DIA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E E K SCAN
Prognosis
T h e m edian age at death for u n o p e ra ted infants is 4 days. T h e initial treatm en t is the
same as for any anom alies in w h ic h the perfusion is ductu s-d ep en d en t: prostaglandin
E j. R e c e n t reports suggest an overall late survival o f m ore th an 70% after surgery.
H YPO PLASTIC LEFT H EA R T SY NDR O M E

T h is is a sp ectru m o f anom ahes characterized by a very small left ventricle w ith m itral
a n d /o r aortic atresia o r hypoplasia. B lo o d flow to the head and neck vessels and c o ro
nary artery is supplied in a retrograde m an n e r via the ductus arteriosus.
D iagnosis
Prenatal echocardiographic diagnosis o f the syndrom e depends o n the dem o n stratio n
o f a d im inutive left ventricle and ascending aorta. In m ost cases, the ultrasound appear
ance is self-explanatory, and the diagnosis an easy one. T h ere is, ho w ev er, a b road spec
tru m o f hypoplasia o f th e left ventricle and, in som e cases, the ven tricu lar cavity is
alm ost norm al in size. As the fo u r-c h am b er v iew is alm ost norm al, w e anticipate that
these cases w ill be certainly missed in m ost ro u tin e surveys o f fetal anatom y. A t a closer
scrutiny, h o w ev er, the m o v e m e n t o f the m itral valve appears severely im paired to
no n -ex isten t, v en tricu lar contractility is obviously decreased, and th e ventricle often
displays an intern al ech o g en ic lining th at is probably due to endocardial fibroelastosis.
T h e definitive diagnosis o f th e syndrom e depends o n the dem o n stratio n o f hypoplasia
o f the ascending aorta and atresia o f the aortic valve. C o lo r flow m apping is an
extrem ely useful adjunct to the real-tim e exam ination, in that it allows the dem onstra
tio n o f retrograde b lo o d flow w ith in the ascending aorta and aortic arch.
Prognosis
H ypoplastic left h eart is w ell to lerated in utero. T h e patency o f the ductus arteriosus
allows adequate perfusion o f the head and neck vessels. In trau terin e g ro w th m ay be
norm al, and the onset o f sym ptom s m ost frequendy occurs after birth. T h e prognosis
for infants w ith hypoplastic left heart syndrom e is extrem ely p o o r and this lesion is
responsible for 25% o f cardiac deaths in the 1st w eek o f life. A lm ost all affected infants
die w ith in 6 w eeks if th ey are n o t treated. In the neonatal perio d , prostaglandin therapy
is given to m aintain ductal patency, b u t still congestive heart failure develops w ith in
24 h o f life. O p tio n s for surgery include cardiac transplantation in the neonatal perio d
(w ith an 80% 5 -year survival) and the three-staged N o rw o o d repair. Stage 1 involves
anastom osis o f th e p u lm o n ary artery to the aortic arch for systemic outflow , placem ent
o f sy stem ic-to -p u lm o n ary arterial sh u n t to provide p u lm onary b lo o d flow , and arterial
septectom y to ensure u n o b stru cted pulm o n ary venous return; the m ortality from the
36
pro ced u re is ab o u t 30%. Stage 2 (w hich is usually carried o u t in the 6 th m o n th o f life)

involves anastom osis o f the superior vena cava to the pulm o n ary arteries. T h e overall
2-y ear survival w ith th e N o rw o o d repair is about 50%, b u t m ore than 50% o f survivors
have n eu ro d ev elo p m en tal delay.
PULM O N ARY STENO SIS A N D PU LM O N A R Y ATRESIA
Prevalence
P u lm o n ary stenosis is fo u n d in about 1 p er 2000 births. P u lm o n ary atresia is rare, and is
fo u n d in less than 1 p er 10 000 births.
Diagnosis
T h e m ost c o m m o n form o f p ulm o n ary stenosis is the valvar type, due to the fusion o f
the p u lm onary leaflets. H em o dynam ics are altered in p ro p o rtio n to the degree o f the
stenosis. T h e w o rk o f th e rig h t ventricle is increased, as w ell as the pressure, leading to
h y p ertro p h y o f the v en tricu lar walls. T h e same considerations form ulated for the p re
natal diagnosis o f aortic stenosis are valid for pu lm o n ary stenosis as w ell. A handful o f
cases recognized in utero have b een rep o rted in the literature thus far, m ostly severe
types w ith enlarg em en t o f the right ventricle a n d /o r post-stenotic enlargem ent or
hypoplasia o f the p u lm o n ary artery.
P u lm o n ary atresia w ith in tact ven tricu lar septum (PA: I VS) in infants is usually asso
ciated w ith an hypoplastic rig ht ventricle. H o w ev e r, cases w ith enlarged right ventricle
and atriu m have b e e n described w ith unusual frequency in prenatal series. A lthough
these series are small, it is possible that the discrepancy w ith the pediatric literature is
due to the very high perinatal loss rate that is fo u n d in ‘d ilated’ cases. E nlargem ent o f the
ventricle and atriu m is p robably the consequence o f tricuspid insufficiency. Prenatal
diagnosis o f PA:IVS relies o n the d em onstration o f a small p u lm o n ary artery w ith an
atretic p u lm o n ary valve. T h e considerations previously form ulated for the diagnosis o f
hypoplastic left h eart syndrom e apply to PA:IVS as well.
Prognosis
Patients w ith m ild stenosis are asym ptom atic and there is no need for in terv en tio n .
Patients w ith severe stenosis, right ventricular overload m ay result in congestive heart
failure and require balloon valvoplasty in the neonatal p erio d w ith excellent survival
and norm al lo n g -te rm prognosis. Fetuses w ith p u lm o n ary atresia and an enlarged right
h eart have a v ery h ig h degree o f perinatal m ortality. Infants w ith right ventricular
hypoplasia req u ire b iv en tricu lar surgical repair and the m ortality is about 40%.
37
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E EK SCAN
C O N O T R U N C A L M ALFORM ATIONS
C o n o tru n c a l m alform ations are a h eterogeneous group o f defects th at involve tw o
different segm ents o f th e heart: the co n o tru n cu s and the ventricles. C o n o tru n c a l an o m
alies are relatively frequent. T h e y account for 20—30% o f all cardiac anom alies and are
th e leading cause o f sym ptom atic cyanotic heart disease in the first year o f life. Prenatal
diagnosis is o f interest for several reasons. G iven the parallel m odel o f fetal circulation,
co n o tru n cal anom alies are w ell to lerated in utero. T h e clinical presentation occurs
usually hours to days after delivery, and is often severe, representing a tru e em ergency
and leading to considerable m o rb id ity and m ortality. Y et, these m alform ations have a
g o o d prognosis w h e n p ro m p tly treated. T w o ventricles o f adequate size and tw o great
vessels are c o m m o n ly present, giving the prem ise for biventricular surgical correction.
T h e o u tc o m e is in d eed m u c h m ore favorable than w ith m ost o f th e o th e r cardiac
defects that are d etected antenatally. T h e first reports o n prenatal echocardiography o f
co n o tru n c a l m alform ations date back fro m the b eg in n in g o f the 1980s. N evertheless,
despite im p ro v e m e n t in th e tech n o lo g y o f diagnostic ultrasound, the reco g n itio n o f
these anom alies rem ains difficult. T h e fo u r-c h am b e r v iew is frequently unrem arkable
in these cases. A specific diagnosis requires m eticulous scanning and at tim es m ay
represent a challenge even for ex p erienced sonologists. R eferral centers w ith special
expertise in fetal echocard io g raphy have in d eed rep o rte d b o th false-positive and
false-negative diagnoses.
T R A N SP O SIT IO N OF THE GREAT ARTERIES

T ran sp o sitio n o f th e great arteries is an abnorm ality in w h ic h the aorta arises entirely or
in large part from th e rig h t ventricle and the pulm onary artery arises fro m the left v e n
tricle. A ssociated cardiac lesions are present in ab o u t 50% o f cases, in clu d in g ventricular
septal defects (w hich can o c c u r anyw here in the ven tricu lar septum ), p u lm o n ary sten o
sis, unbalanced v en tricu lar size (‘com plex transpositions’), anom alies o f the m itral
valve, w h ich can be straddling o r overridding. T h e re are three types o f com plete trans
position: those w ith in tact v en tricular septum w ith o r w ith o u t p u lm o n ary stenosis,
those w ith ven tricu lar septal defects and those w ith ventricular septal defect and p u lm o
nary stenosis.
Prevalence
T ran sp o sitio n o f the great arteries is found in ab o u t 1 p er 5000 births.
Diagnosis
C o m p le te transposition is probably one o f the m ost difficult cardiac lesions to recognize
in utero. In m ost cases, the fo u r-c h a m b er view is norm al, and the cardiac cavities and the
38
vessels have norm al appearance. A clue to the diagnosis is the dem o n stratio n that the
tw o great vessels do n o t cross b u t arise parallel from the base o f the heart. T h e m ost use
ful echocardiographic view , h o w ever, is the left heart view , d em onstrating that the
vessel c o n n e c te d to th e left ventricle has a posterior course and bifurcates in to the tw o
p u lm o n ary arteries. C onversely, the vessel c o n n ected to the right ventricle has a long
upw ard couse and gives rise to the brachiocephalic vessels. D ifficulties m ay arise in the
case o f huge m alalignm ent v entricular septal defect w ith ov errid in g o f the posterior
sem ilunar ro o t. T h is c o m b in atio n makes the differentiation w ith d o u b le -o u tle t right
ventricle very difficult. C o rre c ted transposition is characterized by a d o uble discord
ance, at the atrio v en tricu lar and v entriculo-arterial level. T h e left atrium is c o n n ected
to th e right ventricle, w h ich is in tu rn co n n ected to the ascending aorta. C onversely,
the right atriu m is c o n n e c te d w ith the right ventricle, w h ic h is in tu rn c o n n ec ted to the
ascending aorta. T h e d eran g em en t o f the c o n d u ctio n tissue secondary to m alalignm ent
o f the atrial an d v en tricu lar septa m ay result in dysrhythm ias, nam ely com plete
atrioventricular block. F o r diagnostic purposes, the identification o f the peculiar differ
ence o f v en tricu lar m o rp h o lo g y (m oderator band, papillary muscles, insertion o f the
atrioventricular valves) has a p ro m in e n t role. D em o n stratio n th at the p u lm o n ary veins
are c o n n ected to an atriu m w h ic h is in tu rn c o n n e cted w ith a ventricle that has the
m o d erato r b an d at th e apex is an im p o rtan t clue, th at is fu rth erm o re potentially identifi
able even in a sim ple fo u r-c h a m b er view . D iagnosis requires m eticolous scanning to
assess carefully all cardiac co n nections, by using the same view s described for the c o m
plete form . T h e presence o f atrioventricular block increases the in d ex o f suspicion.
Prognosis
As anticipated fro m th e parallel m odel o f fetal circulation, com plete transposition is u n
eventful in utero. A fter birth , survival depends on the am o u n t and size o f the m ixing o f
the tw o o th erw ise in d e p e n d e n t circulations. Patients w ith transposition and an intact
v entricular sep tu m p resent shortly after birth w ith cyanosis and deteriorate rapidly.
W h e n a large v en tricu lar septal defect is present, cyanosis can be m ild. C linical presen
tation m ay be delayed u p to 2—4 w eeks, and usually occurs w ith signs o f congestive
h eart failure. W h e n severe stenosis o f the pulm o n ary artery is associated w ith a v en tric
ular septal defect, sym ptom s are similar to patients w ith tetralogy o f Fallot. T h e tim e
and m o d e o f clinical p resen tation w ith corrected transposition dep en d u p o n the c o n
co m itan t cardiac defects.
S urgery (w h ich involves arterial sw itch to establish anatom ic and physiological

co rrection) is usually carried o u t w ith in the first 2 w eeks o f life. O p erativ e m ortality is
about 10% and 10-year fo llo w -u p studies rep o rt norm al fu n ctio n , b u t th ere is u n c e r
tainty if, in th e lo n g -te rm , such patients are at increased risk o f atherosclerotic coronary
39
disease. In cases w ith p u lm o n ary stenosis and ven tricu lar septal defect, balloon atrial
septostom y m ay be necessary to ensure adequate oxygenation u n til definitive repair
w h e n th e p atien t is older.
D O U BLE -O U T LET R IG H T VENTRICLE

In d o u b le -o u d e t right ventricle (D O R V ), m ost o f the aorta and p u lm o n ary valve arise
com pletely o r alm ost co m pletely fro m the right ventricle. T h e relation b etw e en
th e tw o vessels m ay vary, ranging fro m a Fallot-like to a T G A -lik e situation (the
Taussig—B in g anom aly). D O R V is n o t a single m alform ation from a pathophysiological
p o in t o f view . T h e te rm refers only to the position o f the great vessels th at is fo u n d in
association w ith v entricular septal defects, tetralogy o f Fallot, transposition, u n iv e n tri
cular hearts. P u lm o n ary stenosis is very c o m m o n in all types o f D O R V , b u t left o u t
flow obstructions, from subaortic stenosis to coarctation and in terru p tio n o f th e aortic
arch, can also be seen.
Prevalence
D o u b le -o u tle t rig h t ventricle is fo u n d in less than 1 p er 10 000 births.
Diagnosis
P renatal diagnosis o f D O R V can be reliably m ade in the fetus b u t differentiation from
o th e r c o n o tru n cal anom alies can be very difficult, especially w ith tetralogy o f Fallot and
transposition o f th e great arteries w ith ven tricu lar septal defect. T h e m ain ech o c ard io -
graphic features include, first, alignm ent o f the tw o vessels totally o r p red o m in an tly
fro m th e right v entricle, and, second, the presence in m ost cases o f bilateral coni
(subaortic and subpulm onary). T h e hem odynam ics are d ep en d en t u p o n the anatom ic
type o f D O R V and th e associated anom alies. Since the fetal heart w orks as a c o m m o n
ch am b er w h e re the b lo o d is m ixed and p u m p e d , D O R V is n o t associated w ith
in trau terin e heart failure. H o w e v e r, D O R V , in contrast to o th e r co n o tru n cal m alfor
m ations, is c o m m o n ly associated w ith extracardiac anom alies a n d /o r chrom osom al
defects.
Prognosis
D o u b le -o u tle t rig h t ventricle usually does n o t interfere w ith hem odynam ics in fetal
life. T h e early operative m ortality is ab o u t 10%.
40
TETRALO G Y OF FALLOT
T h e essential features o f this m alform ation are, first, m alalignm ent ven tricu lar septal
defect w ith an terio r displacem ent o f the in fundibular septum associated w ith sub-
p u lm o n ary n a rro w in g and o v erriding aortic ro o t, and, second, dem onstrable co n
tin u ity b e tw e e e n th e rig h t o u tflo w tract and the pu lm o n ary tru n k . In about 20% o f
cases, this co n tin u ity is lacking, leading to atresia o f th e pu lm o n ary valve, a co n d itio n
that is c o m m o n ly referred to as pulm o n ary atresia w ith v en tricular septal defect.
T etralogy o f Fallot can be associated w ith o th e r specific cardiac m alform ations, defining
peculiar entities. T h ese include atrioventricular septal defects (found in 4% o f cases),
and absence o f th e p u lm o n ary valve (found in less than 2% o f cases). H y p e rtro p h y o f the
right ventricle, o n e o f th e classic elem ents o f the tetrad, is always absent in the fetus, and
only develops after birth.
Prevalence
T etralogy o f Fallot is fo u n d in ab o u t 1 p e r 3000 births.
Diagnosis
E ch ocardiographic diagnosis o f tetralogy o f Fallot relies on the dem o n stratio n o f a
ventricular septal defect in th e o u tlet p o rtio n o f the septum and an o v erriding aorta.
T h e re is an inverse relationship b etw een the size o f the ascending aorta and pulm onary
artery, w ith a d isp ro p o rtio n that is often striking. A large aortic ro o t is in d ee d an im p o r
tant diagnostic clue. D o p p le r studies provide valuable inform ation. T h e finding o f
increased peak velocities in the pulm onary artery corroborates the diagnosis o f tetralogy
o f Fallot by suggesting ob stru ctio n to b lo o d flow in the right o u tflo w tract. C onversely,
d em o n stratio n w ith co lo r a n d /o r pulsed D o p p le r that, in the p u lm o n a ry artery, there is
eith er n o forw ard flow o r reverse flow allows a diagnosis o f p u lm o n a ry atresia. D iagnos
tic problem s arise at the extrem es o f the spectrum o f tetralogy o f Fallot. In cases w ith
m in o r form s o f rig h t o u tflo w o b struction and aortic overriding, differentiation from a
simple v en tricu lar septal defect can be difficult. In those cases in w h ich the pulm onary
artery is n o t im aged, a differential diagnosis b etw e en pu lm o n ary atresia w ith ventricular
septal defect and truncus arteriosus co m m unis is similarly difficult. T h e sonographer
should also be alerted to a freq u en t artifact that resem bles ov errid in g o f the aorta. In
co rrect o rien tatio n o f the transducer m ay dem onstrate apparent septo-aortic disconti
n u ity in a n o rm al fetus. T h e m echanism o f the artifact is probably related to the angle o f
in cidence o f th e so u n d beam . C areful visualization o f the left outflow tract w ith differ
en t inso n atio n angles, as w ell as the use o f co lo r D o p p ler and the research fo r the o th e r
elem ents o f th e tetralogy, should virtually elim inate this p ro b lem . A b norm al enlarge
m en t o f the rig h t ventricle, m ain pulm onary tru n k and artery suggests absence o f the
41
pu lm o n ary valve. E valuation o f o th e r variables, such as m ultiple ventricular septal

defects and co ro n ary anom alies, w o u ld be valuable for a b e tte r p rediction o f surgical
tim in g an d o p erative prognosis. U n fo rtu n ately , these findings can n o t be definitely
reco g n ized b y prenatal echocardiography.
Prognosis
C ardiac failure is n ev er seen in fetal life as w ell as postnatally. E ven in cases o f tight
pu lm o n ary stenosis o r atresia, the w ide ven tricu lar septal defect provides adequate
co m b in ed v en tricu lar o u tp u t, w hile the pulm o n ary vascular b ed is supplied in a re tro
grade m an n er by th e ductus. T h e only excep tio n to this rule is represented by cases w ith
an absent p u lm o n ary valve that may result in massive regurgitation to the right ventricle
and atrium . W h e n severe p u lm onary stenosis is present, cyanosis tends to develop
im m ediately after birth . W ith lesser degrees o f o b stru ctio n to pulm o n ary b lo o d flow ,
the onset o f cyanosis m ay n o t appear until later in the first year o f life. W h e n there is
p u lm o n ary atresia, rapid and severe d eterio ratio n follow s ductal constriction. Survival
after co m p lete surgical repair (w hich is usually carried o u t in the 3rd m o n th o f life) is
m o re than 90% , and ab o u t 80% o f survivors have norm al exercise tolerance.
T R U N C U S AR TER IO SU S COM M UNIS

T ru n c u s arteriosus is characterized by a single arterial vessel that originates fro m the
heart, overrides th e v entricular septum and supplies the system ic, pulm onary and c o ro
nary circulations. T h e single arterial tru n k is larger than the norm al aortic ro o t and is
p red o m in an tly c o n n e c te d w ith the right ventricle in about 40% o f cases, w ith the left
v entricle in 20% , and is equally shared in 40%. T h e truncal valve m ay have one, tw o o r
three cusps and is rarely norm al. It can be stenotic o r, m ore frequently, insufficient. A
m alalignm ent v en tricu lar septal defect, usually w ide, is an essential part o f the m alfor
m ation. T h e re are three types based o n the m o rp h o lo g y o f the pulm o n ary artery. In
type 1, th e p u lm o n ary arteries arise from the truncus w ith in a short distance fro m the
valve, as a m ain p u lm o n ary tru n k , w h ic h th e n bifurcates. In type 2, there is no m ain
p u lm o n ary tru n k . In type 3, only one pu lm o n ary artery (usually the right) originates
fro m the tru n cu s, w hile th e o th e r is supplied by a system ic collateral vessel fro m the
descending aorta. Sim ilar to the tetralogy o f Fallot, and unlike the o th e r co n o tru n cal
m alform ations, truncus is frequently (about 30%) associated w ith extracardiac
m alform ations.
Prevalence
T ru n cu s arteriosus is fo u n d in about 1 p e r 10 000 births.
42
Diagnosis
T ru n cu s arteriosus can be reliably d etected w ith fetal echocardiography. T h e m ain
diagnostic criteria are, first, a single sem ilunar valve overrides the ventricular septal
defect, and, second, there is direct co n tin u ity b etw e e n one o r tw o pulm o n ary arteries
and th e single arterial tru n k . T h e sem ilunar valve is often th ick en ed and m oves ab n o r
mally. D o p p le r ultrasound is o f value to assess in co m p eten ce o f the truncal valve. A
peculiar p ro b lem fo u n d in prenatal echocardiography is the d em onstration o f the
absence o f the p u lm o n ary o u tflow tract and th e c o n c o m itan t failure to im age the p u l
m onary arteries. In this situation, a differentiation b e tw e e n truncus and pulm onary
atresia w ith v entricular septal defect m ay be im possible.
Prognosis
Sim ilar to the o th e r co n o tru ncal anom alies, truncus arteriosus is n o t associated w ith
alteration o f fetal hem odynam ics. T ru n cu s arteriosus is frequently a neonatal em e r
gency. T h ese patients usually have u n o b stru c ted pulm o n ary b lo o d flow and show signs
o f progressive congestive heart failure w ith the postnatal fall in p u lm o n ary resistance.
M an y patients w ill present w ith cardiac failure in the first 1 o r 2 w eeks o f life. Surgical
repair (usually before th e 6th m o n th o f life) involves closure o f the ventricular septal
defect and creation o f a c o n d u it co n n ectio n b e tw e e n the right ventricle and the p u lm o
nary arteries. Survival fro m surgery is a b o u t 90%, b u t the patients require repeated
surgery for rep lacem en t o f th e conduit.
E B ST E IN ’S ANOM ALY A N D T R IC U SPID VALVE

DYSPLASIA
E b stein ’s anom aly results fro m a faulty im plantation o f the tricuspid valve. T h e poste
rio r and septal leaflets are elo ngated and teth e re d b elo w th e ir norm al level o f attach
m e n t on th e annulus o r displaced apically, aw ay fro m the annulus, d o w n to the ju n c tio n
b e tw e e n th e inlet and trabecular p o rtio n o f the right ventricle. T h e anterior leaflet is
norm ally inserted b u t deform ed. T h e resulting configuration is that o f a considerably
enlarged rig h t atriu m at th e expense o f the right ventricle. T h e p o rtio n o f the rig h t v e n
tricle th at is ceded to the right atrium is called the atrialized inlet o f the right ventricle. It
has a th in w all that m ay even be m em b ran o u s and is c o m m o n ly dilated. T h e tricuspid
valve is usually b o th in c o m p eten t and stenotic. A ssociated anom alies include atrial
septal defect, p u lm o n ary atresia, ven tricu lar septal defect, and supraventricular tachy
cardia. E b stein ’s anom aly m a y b e associated w ith trisom ies 13 and 21, T u rn e r, C ornelia
de Lange and M arfan syndrom es. M aternal injestion o f lith iu m has also b een in c rim i
nated as a causal factor.
43
Diagnosis
T h e characteristic finding is that o f a massively enlarged right atrium , a small right v en
tricle, and a small p u lm o n ary artery. D o p p le r can be used to dem onstrate regurgitation
in th e rig h t atrium . A b o u t 25% o f the cases have supraventricular tachycardia (from
re -e n tra n t im pulse), atrial fibrillation o r atrial flutter. D ifferential diagnosis from p u l
m o n ary atresia w ith intact v entricular septum and a regurgitant tricuspid valve o r iso
lated tricuspid valve insufficiency is difficult and m ay be im possible antenatally.
Prognosis
A lth o u g h the disease has a variable severity w ith som e cases discovered only late in life,
E b stein ’s anom alies d etected prenatally have a dismal prognosis, w ith essentially all
patients dying. T h is probably reflects th at the prenatal variety is m o re severe than the
o n e d etected in child ren o r adults.
ECH O G ENIC FOCI
Prevalence
E ch ogenic foci in the heart are fo u n d in ab o u t 4% o f pregnancies and in 12% o f fetuses
w ith trisom y 21.
Etiology
H istological studies have sh o w n these foci to be due to m ineralization w ith in a papillary
muscle.
Diagnosis
E ch ogenic foci are d etected in the fo u r-ch a m b er view o f the heart. In about 95% o f
cases, th ey are lo cated in the left ventricle and in 5% in the right ventricle; in 98% they
are unilateral and 2% bilateral. V entricular fu n ctio n is norm al and the atrioventricular
valves are co m p eten t.
Prognosis
E ch o g en ic foci are usually o f n o pathological significance and, in m ore th an 90% o f
cases, th ey resolve by th e th ird trim ester o f pregnancy. H o w ev e r, th ey are som etim es
associated w ith cardiac defects and chrom osom al abnorm alities. F or isolated h y p e r-
ech o g en ic foci, the risk for trisom y 21 m ay be three tim es the b ack g ro u n d m aternal
age- and g estation-related risk (see A p p en d ix I).
44
CA RDIAC D Y SR H Y T H M IA S: PREM ATURE

C O N T R A C T IO N S
E cto p ic h eart beats are c o m m o n b u t they are abnorm al only w h e n th e y o cc u r at a fre
q u en cy o f m o re th an o n e in ten beats. P rem atu re contractions m ay be o f atrial (m uch
m o re co m m o n ) o r v en tricu lar origin. Im m atu rity o f the c o n d u c tin g system m ay be the
origin. T h e diagnosis is m ade by passing an M -m o d e cursor th ro u g h o n e atrium and
o n e ventricle (see Figure 12, p. 51). P rem ature atrial contractions are spaced closer to
th e previous c o n tractio n than norm ally and m ay be transm itted to the ventricle or
blocked. P rem atu re v en tricu lar contractions present in the same w ay b u t are n o t
accom panied b y an atrial contraction. P rem ature ven tricu lar contractions are often
follow ed by a compensatory pause due to the refractory state o f the c o n d u c tio n system;
th e n ex t c o n d u c te d im pulse arrives at tw ice the norm al interval, and the co n tin u ity o f
th e rh y th m is n o t b ro k en . P rem atu re atrial contractions are usually follow ed by a
non-compensatory pause; w h e n the regular rh y th m resum es, it is n o t synchronous w ith
the rh y th m before the extrasystole. T h e distance b etw ee n the co n trac tio n th at p re
ceded the p rem atu re co n tra c tio n and the one follow ing it is n o t tw ice the distance
b etw een tw o norm al contractions b u t a little shorter. A n o th e r approach to the
sonographic diagnosis is to evaluate the w aveform s obtain ed from the atrioventricular
valves, hepatic vessels o r in ferio r vena cava, w h ich dem onstrate pulsations corresp o n d
ing to atrial and v en tricu lar contractions.
P rem atu re co n tractio n s are ben ig n , ten d to disappear spontaneously in utero, and
only rarely persist after b irth . It has b een suggested that, in som e cases, th ere m ay be
progression to tachyarrhythm ia, b u t the risk, if any, is certainly very small.
C A RDIAC D Y SR H Y T H M IA S: TA C H Y A R R H Y TH M IA S
T achyarrhythm ias are classified according to the origin and the n u m b e r o f beats per
m in u te. In th e m ajority o f cases, the abnorm al electrical im pulse originates fro m the
atria. A trial tachyarrhythm ia includes supraventricular tachycardia, atrial flu tte r and atrial
fibrillation. Since atrial rhythm s greater than 240 b e a ts/m in are usually associated w ith
varying degrees o f atrio v en tricular block, the ventricular rate is usually reduced to
60—160 b e a ts/m in . V en tricu lar tachycardia has b een occasionally e n c o u n te re d d u ring
fetal life. Supraventricular tachycardia is the m ost c o m m o n form o f tachyarrhythm ia, and
the v en tricu lar response is 1 : 1. It is characterized by a heart rate o f 200—300 b eats/m in .
S upraventricular tachycardia m ay be due to an au to n o m o u s focus, in w h ic h case
th e rh y th m is m o n o to n o u s, o r to a re-e n try m echanism , in w h ic h case sudden c o n
version fro m an abnorm al to a norm al rh y th m can be seen. C ardiac m alform ations are
rare.
45
A trial flu tter is associated w ith a heart rate o f 300—400 b eats/m in . T h e ventricular
response is equal to o r less than 2 : 1 . O ccasionally, atrioventricular block o f high
degree w ith v en tricu lar bradycardia are seen. Structural anom alies are m o re c o m m o n
than in supraventricular tachycardia and include E b stein ’s anom aly and pu lm o n ary
stenosis.
A trial fibrillation is characterized by an atrial rate greater than 400 b e a ts/m in and
com pletely irregular v en tricu lar rh y th m , w ith constant variation o f the distance
b etw een systole. T h e atrial contractions are usually to o small to be detected by
M -m o d e . A c o m b in atio n o f different atrial arrhythm ias may coexist in the same fetus.
Ventricular tachycardias are rare, and have typically a ventricular freq u en cy o f

200 b e a ts/m in o r less. A ssociated anom alies include atrial septal defect, atrial septal
aneurysm , m itral anom alies, endocardial cushion defect, endocardial fibroelastosis,
E b stein ’s anom aly, cardiac tum ors (rhabdom yom a), anom alies o f the c o n d u c tio n
system , C oxsackie B in fectio n and cardiom yopathy. T achycardia is c o m m o n ly associ
ated w ith hydrops, as a conseq u ence o f lo w cardiac o u tp u t.
Diagnosis
T h e heart rate, atrial and v entricular, can be analyzed by either M -m o d e sonography o f
the cardiac cham bers o r pulsed D o p p le r evaluation o f atrioventricular inflow s, hepatic
veins and inferior vena cava. A heart rate o f about 240 b e a ts/m in w ith atrioventricular
c o n d u c tio n o f 1 : 1, is p a th o g n o m o n ic o f supraventricular tachycardia. A n atrial rate
greater than 300 b e a ts/m in w ith an atrioventricular response o f 1 : 2 o r less indicates
atnal flutter. A very fast atrial rate w ith irregular ventricular response is indicative o f
atrial fibrillation. A v en tricu lar rate in the range o f 200 b ea ts/m in w ith a n o rm al atrial
rate is suggestive o f v en tricu lar tachycardia.
Prognosis
Sustained tachycardia is associated w ith suboptim al ventricular filling and decreased
cardiac o u tp u t. T hese result in atrial overload and congestive failure. Fetuses w ith
supraventricular tachycardia that occasionally co n v ert to sinus rh y th m can tolerate w ell
th e co n d itio n . Sustained tachycardias o f greater th an 200 b e a ts/m in frequently result in
fetal hydrops. T h e co m b in atio n o f hydrops and dysrhythm ia has a p o o r prognosis
(m ortality o f 80%) in d e p e n d e n t o f th e nature o f the tachycardia.
Fetal therapy
A fter 32 w eeks o f gestation, the fetus should be delivered and treated ex utero. Prenatal
treatm en t is th e standard o f care for prem atu re fetuses th at have sustained tachycardias
46
o f m ore than 200 b eats/m in , particularly if there is associated hydrops a n d /o r poly

hydram nios. T h e treatm en t depends o n the type o f tachycardia, and the aim is to either
decrease th e excitability o r increase the c o n d u c tio n tim e to block a re -e n tra n t m ech a
nism . A lth o u g h a vagual m an eu v er (such as sim ple com pression o f the cord) m ay som e
tim es suffice, th e adm inistration o f antiarrhythm ic drugs is often necessary. T h e drugs
used inclu d e pro p ran o lo l, verapam il, procainam ide, q u in idine, flecainide, am iodarone
and adenosine; a co m b in atio n o f these drugs is also possible b u t the optim al approach
rem ains uncertain. T hese drugs are usually adm inistered to the m o th e r b u t th ey can also
be given directly to th e fetus (i n trap eri to n e ally, intram uscularly in th e thigh or
intravascularly th ro u g h the um bilical cord). T h e usual response to treatm en t is c o n v er
sion to a norm al rh y th m , follow ed by sho rter episodes o f tachycardia that are m ore
interspersed, an d finally th e presence o f extrasystole alone. Fetuses w ith norm al rh y th m
b u t persistent hydrops are still at risk o f death. T h e survival rate o f fetuses w ith
tachyarrhythm ias treated in utero is m o re than 90%.
CARDIAC D Y SR H Y TH M IA S: COMPLETE
A T R IO V EN TR IC U LA R BLOCK
In com plete atrioventricular block, the atria beat at th eir o w n rh y th m , and n o n e o f
th eir im pulses is transm itted to th e ventricles. T h e ventricles have a slow rate
(40—70 b eats/m in ). In 50% o f cases, structural anom alies are present (m ostly left
isom erism and co rrected transposition o f the great arteries). In the rem aining cases, the
co n d itio n is alm ost exclusively caused by the presence o f m aternal autoantibodies,
a n ti-R o (SS-a) o r anti-L a (SS-B). M ost m others are asym ptom atic, b u t in a few cases
co n n ectiv e tissue disease is present (lupus erythem atosus, scleroderm a, rh eu m ato id
arthritis and S jogren’s syndrom e). Fetuses w ith cardiac m alform ations have heart block
starting from the first trim ester. A trioventricular block secondary to m aternal au to
antibodies develops slow ly th ro u g h o u t gestation; a norm al cardiac rh y th m m ay be
fo u n d in the second trim ester.
A trial and v en tricu lar contractions are identified by eith er M -m o d e o r pulsed

D o p p ler, as previously described. T h e prognosis depends on the presence o f cardiac
defects, th e v entricular rate and the presence o f hydrops; usually, fetuses w ith a v e n tri
cular rate greater than 55 b e a ts/m in have a norm al in trau terin e g ro w th and do n o t
d evelop h eart failure. C onversely, hydrops is alm ost the rule for greater degrees o f
v en tricu lar bradycardia. In trau terin e treatm e n t by the adm inistration o f (3-m im etic
agents has b een used (w ith the aim o f increasing electric excitability o f the m yocardial
cells and thus v en tricu lar rate), b u t the results have b een disappointing. M aternal
adm inistration o f steroids (dexam ethasone 8 m g /d ay ) has been advocated for com plete
47
h eart block secondary to m aternal autoantibodies, b u t the value o f this treatm en t

rem ains, h o w ev er, u n p ro v en . Invasive fetal cardiac pacing has been attem p ted b u t thus
far th ere have b een n o survivors.
48
Normal four-chamber
49
C A R D I O V A S C U L A R SYSTEM
Figure 10 Cardiac defects detected in the four-chamber view of the heart
DIAGNOS IS OF FETAL ABN O RM A LITIES : T H E 18-23-W EEK SCAN
Normal outflow tracts
50
Figure 11 Defects in the outflow tracts of the heart

C A R D I O V A S C U L A R SYSTEM
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5
Pulmonary abnormalities
CYSTIC A D E N O M A T O ID M ALFO R M ATIO N (CAM)

C ystic ad en o m ato id m alfo rm ation o f the lu n g is a developm ental abnorm ality arising
from an o v erg ro w th o f th e term inal respiratory bronchioles. T h e co n d itio n m ay be bi
lateral involving all lu n g tissue, b u t in the m ajority o f cases it is confined to a single lung
o r lobe. T h e lesions are e ith er m acrocystic (cysts o f at least 5 m m in diam eter) o r
m icrocystic (cysts less th an 5 m m in diam eter). In 85% o f cases, the lesion is unilateral
w ith equal frequency in the right and left lungs and equal frequency in the m icrocystic
and m acrocystic types.
Prevalence
Cystic ad en o m ato id m alform ation o f the lu n g is fo u n d in a b o u t 1 in 4000 births.
Etiology
T his is a sporadic abnorm ality. In ab o u t 10% o f cases, th ere are o th e r abnorm alities,
m ainly cardiac and renal.
Diagnosis
Prenatal diagnosis is based o n the ultrasonographic d em o n stratio n o f a hyperechogenic
p u lm o n ary tu m o r w h ic h is cystic (C A M type 1), m ix ed (C A M type 2), o r solid —
m icrocystic (C A M type 3) (see Figure 13, p. 59). M icrocystic disease results in un ifo rm
h y p erech o g en icity o f th e affected lu n g tissue. In m acrocystic disease, single o r m ultiple
cystic spaces m ay be seen w ith in the thorax. B o th m icrocystic and m acrocystic disease
m ay be associated w ith d eviation o f the m ediastinum ; in bilateral disease, the heart m ay
be severely com pressed, alth o ugh n o t deviated. W h e n there is com pression o f the heart
and m ajo r b lo o d vessels in the thorax, fetal hydrops develops. P olyhydram nios is a
c o m m o n feature and this m ay be a consequence o f decreased fetal sw allow ing o f
am niotic fluid due to esophageal com pression, o r increased fluid p ro d u ctio n by the ab
norm al lu n g tissue. P ro g n o stic features for p o o r o u tc o m e in clu d e bilateral disease, o r
53
unilateral w ith m ajor lu n g com pression causing pulm o n ary hypoplasia, and develop
m e n t o f hydrops fetalis irrespective o f the type o f the lesion.
Prognosis
Bilateral disease is lethal eith er in utero, due to progressive hydrops, o r in the neonatal
perio d . Isolated unilateral cystic aden o m ato id m alform ation w ith o u t hydrops is associ
ated w ith a g o o d prognosis; in about 70% o f cases, the relative size o f the fetal tu m o r
rem ains stable, in 20% o f cases there is antenatal shrinkage o r resolution, and in 10% o f
cases th ere is progressive increase in m ediastinal com pression. In sym ptom atic n e o
nates, th o ra c o to m y and lo b ecto m y are carried o u t and survival is about 90%. It is u n c e r
tain w h e th e r surgery is also n eed ed for asym ptom atic neonates.
Fetal therapy
Large intrathoracic cysts causing m ajor m ediastinal shift and associated hydrops can be
treated effectively by the insertion o f th o raco -am n io tic shunts. T h e role o f m o re inva
sive in te rv e n tio n , such as h y sterotom y and excision o f solid tum ors in cases o f fetal
hydrops, rem ains to be defined. A lthough g o o d results have b een rep o rted after such
surgery in a small n u m b e r o f cases, the p o tential risks to the m o th e r b o th du rin g the
pregnancy and in subsequent confinem ents should n o t be underestim ated.
DIAPH R AG M ATIC H ER N IA
D e v e lo p m e n t o f the diaphragm is usually c o m p leted by the 9th w e ek o f gestation. In
the presence o f a defective diaphragm , there is h e rn iatio n o f the abdom inal viscera in to
th e th o rax at ab o u t 10—12 w eeks, w h e n the intestines retu rn to the abdom inal cavity
fro m th e um bilical cord. H o w e v e r, at least in som e cases, intrathoracic h ern iatio n o f
viscera m ay be delayed until the second o r third trim ester o f pregnancy.
Prevalence
D iaphragm atic hernia is fo u n d in about 1 p e r 4000 births.
Etiology
D iaphragm atic hernia is usually a sporadic abnorm ality. H o w ev er, in about 50% o f
affected fetuses th ere are associated chrom osom al abnorm alities (m ainly trisom y 18,
trisom y 13 and Paliister—K illian syndrom e — m osaicism for tetrasom y 12p), o th e r
defects (m ainly craniospinal defects, including spina bifida, hydrocephaly and the
otherw ise rare in iencephaly, and cardiac abnorm alities) and genetic syndrom es (such as
Fryns syndrom e, de Lange syndrom e and M arfan syndrom e).
54
P U L M O N A R Y A B N O R M A LITIES
Diagnosis
Prenatally, the diaphragm is im aged by ultrasonography as an echo-free space betw een
the th o rax and ab d o m en . D iaphragm atic hernia can be diagnosed by the ultrasono
graphic d em o n stratio n o f stom ach and intestines (90% o f the cases) o r liver (50%) in the
thorax and the associated m ediastinal shift to the opposite side. H e rn ia te d abdom inal
contents, associated w ith a left-sided diaphragm atic hernia, are easy to dem onstrate
because the ech o -free fluid-filled stom ach and small b o w el contrast dram atically w ith
th e m o re echo g en ic fetal lung. In contrast, a right-sided hernia is m o re difficult to id e n
tify because the ech o g en icity o f the fetal liver is similar to th at o f the lung, and visualiza
tion o f the gall b lad d er in th e right side o f the fetal chest m ay be the only w ay o f m aking
the diagnosis. P o lyhydram nios (usually after 25 weeks) is fo u n d in about 75% o f cases
and this m ay be th e co nsequence o f im paired fetal sw allow ing due to com pression o f
th e esophagus by th e h ern iated abdom inal organs. T h e m ain differential diagnosis is
from cystic lu n g disease, such as cystic aden o m ato id m alform ation o r mediastinal cystic
processes, e.g. n e u ro e n te ric cysts, bro n ch o g en ic cysts and thym ic cysts. In these cases, a
fluid-filled stru ctu re causing m ediastinal shift m ay be present w ith in the chest. H o w
ever, in contrast to diaphragm atic hernia, the u p p er abdom inal anatom y is norm al.
A ntenatal p re d ic tio n o f p u lm o n ary hypoplasia rem ains one o f the challenges o f p re
natal diagnosis because this w o u ld be vital in b o th counselling parents and also in select
ing those cases th at m ay benefit fro m prenatal surgery. P o o r prognostic signs are, first,
increased n uchal translucency thickness at 10—14 w eeks, second, intrathoracic h ern ia
tio n o f abdom inal viscera before 20 w eeks, and, third, severe m ediastinal com pression
suggested by an abnorm al ratio in the size o f the cardiac ventricles and the dev elo p m en t
o f polyhydram nios.
Prognosis
In th e h u m an , th e b ro n ch ial tree is fully developed by th e 16th w eek o f gestation, at
w h ich tim e the full adult n u m b e r o f airways is established. T h e alveoli c o n tin u e to
develop even after birth , increasing in n u m b er and size u n til the g ro w th o f the chest
wall is co m p leted in ad u lth o o d . T h e g ro w th o f b lo o d vessels supplying the acinus
(intra-acinar vessels) parallels alveolar d ev elo p m en t, w hile the g ro w th o f p re-acinar
vessels follow s th e d ev elo p m en t o f the airways. In diaphragm atic hernia, the red uced
thoracic space available to the developing lu n g leads to red u c tio n in airways, alveoli and
arteries. F u rth e rm o re , th ere is an increase in arterial m edial wall thickness and extension
o f m uscle peripherally in to th e small p re-acinar arteries, offering an explanation for the
p u lm o n ary h y p erten sio n and persistent fetal circulation observed after neonatal repair.
T h u s, alth o u g h isolated diaphragm atic hernia is an anatom ically sim ple defect, w h ic h is
easily correctable, th e m ortality rate is ab o u t 50%. T h e m ain cause o f death is
55
D IA G N O SIS O F FETAL A B N O RM A LITIES: T H E 18-23-W E E K SCAN
hypoxem ia due to p u lm o n ary h ypertension, resulting fro m the abnorm al dev elo p m en t
o f the p u lm o n ary vascular bed.
Fetal therapy
E xtensive anim al studies have suggested that p u lm o n ary hypoplasia and hypertension
d ue to intrathoracic com pression are reversible by in utero surgical repair. H o w e v e r,
such th erap y is likely to have lim ited success in the h u m an because the b ro n ch ial tree is
fully d ev eloped by th e 16th w eek o f gestation. F o r a fetus w ith a sonographically
dem onstrable large diaphragm atic hernia at 16—18 w eeks, irreversible m aldevelopm ent
o f the b ro n ch ial tree and vasculature is likely. H o w e v e r, in fetuses w ith a diaphragm atic
defect w h ich allows the intrathoracic h ern iatio n o f abdom inal viscera only after
m id -g estatio n (w hen th e bronchial tree and p re-acin ar vessels are fully d ev eloped), pre
natal co rrectio n , by allow ing fu rth er d e v elo p m e n t o f the alveoli and in tra-acinar
vessels, m ay w ell p rev en t p u lm o n ary hypoplasia and neonatal death. In a few cases o f
diaphragm atic hernia, hystero tom y and fetal surgery have been carried o u t b u t this
in te rv e n tio n has n o w be aband oned in favor o f m inim ally invasive surgery. A nim al
studies have d em onstrated that ob stru ctio n o f the trachea results in expansion o f the
fetal lungs by retained p u lm o n ary secretions. E ndoscopic occlusion o f the fetal trachea
has also b een carried o u t in h u m an fetuses w ith diaphragm atic hernia, b u t the n u m b e r
o f cases is to o small for useful conclusions to be draw n as to the effectiveness o f such
treatm ent.
PLEURAL EFFUSIONS
Fetal pleural effusions, w h ich m ay be unilateral (usually right-sided) o r bilateral, m ay be
an isolated finding o r they o ccu r in association w ith generalized edem a and ascites (see
p. 115).
Prognosis
Irrespective o f the u n derlying cause, infants affected by pleural effusions usually present
in the neonatal p erio d w ith severe, and o ften fatal, respiratory insufficiency. T his is
e ith e r a direct result o f p u lm o n ary com pression caused by the effusions, o r due to p u l
m o n ary hypoplasia secondary to chronic in trath o racic com pression. T h e overall m o r
tality o f neonates w ith pleural effusions is 25% , w ith a range from 15% in infants w ith
isolated pleural effusions to 95% in those w ith gross hydrops. T h e m ortality rate in cases
o fan ten atally diagnosed chylothorax is a b o u t 50%. Isolated pleural effusions in the fetus
m ay eith er resolve spontaneously o r they can be treated effectively after birth. N e v e r
theless, in som e cases, severe and ch ro n ic com pression o f the fetal lungs can result in
p u lm o n ary hypoplasia and neonatal death. In others, m ediastinal com pression leads to
56
PU L M O N A R Y A B N O R M A L IT IE S
the d ev elo p m en t o f hydrops and polyhydram nios, w h ich are associated w ith a high risk
o f p rem atu re delivery and perinatal death.
Fetal therapy
A ttem pts at prenatal therapy by repeated thoracocenteses for drainage o f pleural effu
sions have b een generally unsuccessful in reversing the hydropic state, because the fluid
reaccum ulates w ith in 24—48 h o f drainage. A b e tte r approach is ch ro n ic drainage by the
in sertion o f th o raco am n io tic shunts. T his is useful b o th for diagnosis and treatm ent.
First, the diagnosis o f an u n d erlying cardiac abnorm ality o r o th e r intrathoracic lesion
m ay b eco m e apparent only after effective decom pression and retu rn o f the m edias
tin u m to its no rm al position. Second, it can reverse fetal hydrops, resolve p o lyhydram
nios and th ereb y reduce the risk o f p reterm delivery, and m ay p rev en t p u lm onary
hypoplasia. T h ird , it m ay be useful in the prenatal diagnosis o f pu lm o n ary hypoplasia
because, in such cases, the lungs often fail to expand after shunting. F u rth erm o re , it m ay
help to distinguish b e tw e e n hydrops due to prim ary accum ulation o f pleural effusions,
in w h ich case th e ascites and skin edem a m ay resolve after shunting, and o th e r causes o f
hydrops such as in fectio n , in w h ich drainage o f the effusions does n o t p re v en t w o rsen
ing o f the hydrops. Survival after th oracoam niotic shunting is m ore than 90% in fetuses
w ith isolated pleural effusions and about 50% in those w ith hydrops.
SE Q U ESTR A TIO N OF TH E LUNGS

In lu n g sequestration, a p o rtio n o f the lu n g develops w ith o u t co n n e c tio n to the air
ways. T h e b lo o d supply to the abnorm al lu n g tissue is th ro u g h arteries th at arise from
th e descending aorta rath er than fro m the pulm onary artery. T his co n d itio n is classically
divided in th e radiological literature in to intralobar (about 75%) and extralobar (about
25%), b u t the difference (w hich is based o n the presence o r absence o f a separate
pleural coverin g fro m the no rm al lung) can n o t be accurately d eterm in ed w ith prenatal
ultrasound.
Prevalence
Sequestration o f the lungs is rare and the prevalence is less than 5% o f congenital p u lm o
nary abnorm alities.
Etiology
Sequestration o f the lungs is a sporadic abnorm ality.
57
Diagnosis
T h e sequestrated p o rtio n o f th e lu n g appears as a h o m o g en eo u s, brightly echogenic
mass in th e lo w e r lobes o f the lungs o r in the u p p e r abd o m en (infradiaphragm atic
sequestration). T h e diagnosis is co n firm ed by co lo r D o p p le r dem o n stratio n that the
vascular supply o f the sequestered lo b e arises from the abdom inal aorta. Large lung
sequestration m ay act as an arteriovenous fistula and cause h ig h -o u tp u t heart failure and
hydrops. In tralobar sequestrations are usually isolated, w hereas m ore than 50% o f
extralobar sequestrations are associated w ith o th e r abnorm alities (m ainly diaphragm atic
hernia and cardiac defects).
Prognosis
Postnatal o u tc o m e depends o n the presence o f associated abnorm alities, and
h em o d y n am ic disturbances. In general, intralobar sequestration has an excellent p ro g
nosis, w hereas extralobar sequestration has a p o o r prognosis because o f th e high in ci
d ence o f o th e r defects and hydrops.
58
P U L M O N A R Y A B N O R M A L IT IE S
Normal lungs
59
6
Anterior abdominal wall
N o rm al d ev elo p m en t o f th e an terio r abdom inal wall depends o n the fusion o f four
ectom esoderm ic folds (cephalic, caudal and tw o lateral). A t 8—10 w eeks o f gestation, all
fetuses dem onstrate h e rn iatio n o f the m id -g u t that is visualized as a hyperechogenic
mass in th e base o f th e um bilical cord; retraction in to the abdom inal cavity occurs at
10—12 w eeks and is c o m p le te d by 11 w eeks and 5 days. T h e in tegrity o f the abdom inal
wall should always be d em o n strated; this can be achieved by transverse scans d e m o n
strating th e insertio n o f the um bilical cord. It is also im p o rtan t to visualize the u n n ary
bladder w ith in th e fetal pelvis, because this rules o u t exstrophy o f the bladder and o f the
cloaca.
EXO M PH ALO S
E xom phalos results fro m failure o f norm al em bryonic regression o f the m id -g u t from
th e um bilical stalk in to th e abdom inal celom . T h e abdom inal co n ten ts, including
intestines and liver o r spleen co vered by a sac o f parietal p e rito n e u m and am n io n , are
hern iated in to th e base o f th e um bilical cord. Less often there is an associated failure in
th e cephalic em b ry o n ic fold, resulting in the pentalogy o f C antrell (u pper m id-line
om phalocele, a n terio r diaphragm atic hernia, sternal cleft, ectopia cordis and in tra
cardiac defects) o r failure o f th e caudal fold, in w h ich case the om phalocele m ay be asso
ciated w ith exstrophy o f th e bladder o r cloaca, im perforate anus, colonic atresia and
sacral vertebral defects. T h e B eckw ith—W ied e m a n n syndrom e (usually sporadic and
occasionally familial syn d ro m e w ith a birth prevalence o f ab o u t 1 in 14 000) is the asso
ciation o f om phalocele, m acrosom ia, organom egaly and m acroglossia; in som e cases
there is m ental handicap, w h ic h is th o u g h t to be secondary to inadequately treated
hypoglycem ia. A b o u t 5% o f affected individuals develop tum ors d u rin g ch ild h o o d ,
m ost c o m m o n ly neph ro b lasto m a and hepatoblastom a.
61
DIA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E E K SCAN
Prevalence
E xom phalos is fo u n d in ab o u t 1 p er 4000 births.
Etiology
T h e m ajority o f cases are sporadic and the recurrence risk is usually less than 1%. H o w
ever, in som e cases, there m ay be an associated genetic syndrom e. C h rom osom al
abnorm alities (m ainly trisom y 18 o r 13) are fo u n d m ab o u t 50% o f cases at 12 w eeks,
30% o f cases at m id-gestation and in 15% o f neonates. Similarly, in B eckw ith—
W ied em an n syndrom e, m ost cases are sporadic, although autosom al d o m in an t, reces
sive, X -lin k e d and polygenic patterns o f inheritance have been described.
Diagnosis
T h e diagnosis o f exom phalos is based on the d em onstration o f the m id -lin e anterior
abdom inal w all defect, th e h erniated sac w ith its visceral contents and th e um bilical
cord insertio n at th e apex o f the sac (see Figure 14, p. 65). U ltrasonographic exam ina
tion should be d irected tow ards defining the ex ten t o f the lesion and exclusion o f o th e r
m alform ations.
Prognosis
E xom phalos is a correctable m alform ation in w h ich survival depends prim arily on
w h e th e r o r n o t o th e r m alform ations o r chrom osom al defects are present. F o r isolated
lesions, the survival rate after surgery is about 90%. T h e m ortality is m u ch hig h er w ith
cephalic fold defects than w ith lateral and caudal defects.
G ASTRO SCH ISIS

In gastroschisis, the p rim ary b o dy folds and the um bilical ring develop norm ally and
evisceration o f the in testine occurs th ro u g h a small abdom inal wall defect located just
lateral and usually to th e right o f an intact um bilical cord. T h e loops o f intestine he u n
covered in th e am niotic fluid and becom e th ickened, edem atous and m atted.
Prevalence
Gastroschisis is fo u n d in ab o u t 1 p er 4000 births.
Etiology
T his is a sporadic abnorm ality. A ssociated chrom osom al abnorm alities are rare, and,
although o th e r m alform ations are found in 10-30% o f the cases, these are m ainly gut
atresias, probably due to gut strangulation and infarction in utero.
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A N T E R IO R A B D O M IN A L WALL
Diagnosis
Prenatal diagnosis is based o n the dem onstration o f the norm ally situated um bilicus and
the h ern iated loops o f intestine, w h ic h are free-floating and w idely separated (see Fig
u re 14, p. 65). A b o u t 30% o f fetuses are g ro w th -restricted b u t the diagnosis can be diffi
cult because gastroschisis as such is associated w ith a small abdom inal circum ference.
Prognosis
P o stoperative survival is ab o u t 90%; m ortality is usually the consequence o f short gut
syndrom e. In this co n d itio n , the infants require total parenteral n u tritio n and they
usually die w ith in the first 4 years o f life from liver disease.
B O D Y STALK ANOM ALY

T his abnorm ality is characterized by the presence o f a m ajor abdom inal wall defect,
severe kyphoscoliosis and a ru d im en tary um bilical cord.
Prevalence
B o d y stalk anom aly is fo u n d in ab o u t 1 p er 10 000 pregnancies.
Etiology
T his is a sporadic abnorm ality. T h e pathogenesis is uncertain b u t possible causes include
abnorm al folding o f the trilam inar em bryo d u rin g the first 4 w eeks o f d ev elo p m en t,
early am n io n ru p tu re w ith am niotic ban d syndrom e, and early generalized com prom ise
o f em b ry o n ic b lo o d flow.
Diagnosis
T h e ultrasonographic features are a m ajor abdom inal wall defect, severe kyphoscoliosis
and a sh o rt um bilical cord. In the first trim ester, it is possible to dem onstrate th at part o f
th e fetal b o d y is in the am niotic cavity and the o th e r part is in the celom ic cavity. T h e
findings suggest th at early am n io n ru p tu re before o b literation o f the celom ic cavity is a
possible cause o f the syndrom e.
Prognosis
T his is a lethal abnorm ality.
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DIA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E EK SCAN
BLA D D E R E X ST R O P H Y A N D CLOACAL E X ST R O P H Y
B ladder exstrophy is a defect o f the caudal fold o f the an terio r abdom inal wall; a small
defect m ay cause epispadias alone, w hilst a large defect leads to exposure o f the posterior
bladder wall. In cloacal exstrophy, b o th the urinary and gastrointestinal tracts are in
volved. C loacal exstrophy (also referred to as O E IS com plex) is the association o f an
om phalocele, exstrophy o f th e bladder, im perforated anus, and spinal defects such as
m eningom yelocele. T h e hem ibladders are on eith er side o f the intestines.
Prevalence
B ladder exstro p h y is fo u n d in 1 p er 30 000 births and cloacal exstrophy is fo u n d in
ab o u t 1 in p e r 200 000 births.
Etiology
B o th b ladder exstro p h y and cloacal exstrophy are sporadic abnorm alities.
Diagnosis
Bladder exstrophy should be suspected w h e n , in the presence o f norm al am niotic fluid,
th e fetal b ladder is n o t visualized (the filling cycle o f the bladder is norm ally in the range
o f 15 m in); an echogenic mass is seen p ro tru d in g from the lo w e r abdom inal w all, in
close association w ith the um bilical arteries (see Figure 14, p. 65). In cloacal exstrophy,
the findings are sim ilar to b ladder exstrophy (large infraum bilical defect th at extends to
the pelvis), b u t a p o sterio r anom alous co m p o n en t (m eningom yelocele) is present.
O th e r findings include single um bilical artery, ascites, vertebral anom alies, club foot
and am biguous genitalia (in boys, the penis is divided and duplicated).
Prognosis
W ith aggresive recon stru ctiv e bladder, b o w el and genital surgery, survival is m o re than
80%. A lth o u g h it has b een suggested that g en d er re-assignm ent to females should
occur, psychological follow -ups o f such patients suggest that b o th m ale and females
w ith this co n d itio n are capable o f a norm al lifestyle w ith norm al intelligence, although
som e form o f u rinary tract diversion is req u ired for all. F u rth erm o re , b o th sexes have
been re p o rte d to be fertile after surgery.
64
Normal abdominal wall
65
A N T E R I O R A B D O M IN A L WALL
Figure 14 A bdom inal wall defects
7
Gastrointestinal tract
Sonographically, th e fetal stom ach is visible fro m 9 w eeks o f gestation as a sonolucent
cystic structure in the u p p e r left quadrant o f the abdom en. T h e bow el is norm ally u n i
form ly echogenic u n til the th ird trim ester o f pregnancy, w h e n p ro m in e n t m ec o n iu m -
filled loops o f large b o w el are co m m o n ly seen. T h e liver com prises m ost o f the u p p er
ab d o m en and th e left lobe is greater in size th an the right due to its greater supply o f
o xygenated b lo o d . T h e gall bladder is seen as an o v oid cystic structure to the right and
b elo w the intrahepatic p o rtio n o f the um bilical vein. T h e spleen m ay also be visualized
in a transverse plane p o sterio r and to the left o f th e fetal stom ach. T h e abdom inal cir
cum ference should be m easured in a cross-section o f the ab d o m en d em onstrating the
stom ach and p ortal sinus o f th e liver (see Figure 15, p. 76). T h e visceral situs should be
assessed, b y d em o n stratin g the relative position o f the stom ach, hepatic vessels, abdom i
nal aorta and in ferio r vena cava.
ESOPH AG EAL ATRESIA

Esophageal atresia and tracheoesophageal fistulae, fo u n d in ab o u t 90% o f cases, result
from failure o f th e p rim itiv e foregut to divide in to the an terio r trachea and posterior
esophagus, w h ic h n orm ally occurs d u ring th e 4 th w eek o f gestation.
Prevalence
Esophageal atresia is fo u n d in ab o u t 1 in 3000 births.
Etiology
Esophageal atresia and tracheoesophageal fistulae are sporadic abnorm alities. C h ro m o
som al abnorm alities (m ainly trisom y 18 o r 21) are fo u n d in ab o u t 20% o f fetuses. O th e r
m ajor defects, m ainly cardiac, are fo u n d in ab o u t 50% o f the cases. T racheoesophageal
fistulae m ay be seen as part o f the V A T E R association (vertebral and ventricular septal
67
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 1 8-23-W EEK SCA N
defects, anal atresia, tracheoesophageal fistula, renal anom alies, radial dysplasia and
single um bilical artery).
Diagnosis
Prenatally, th e diagnosis o f esophageal atresia is suspected w h en , in the presence o f
polyhydram nios (usually after 25 w eek s), repeated ultrasonographic exam inations fail
to dem onstrate th e fetal stom ach (see Figure 15, p. 76); h o w ever, gastric secretions m ay
be sufficient to distend the stom ach and m ake it visible. I f there is an associated fistula,
the stom ach m ay lo o k norm al. O ccasionally (after 25 w eeks), the dilated proxim al
esophageal p o u c h can be seen as an elongated u p p er m ediastinal and retrocardiac
anechoic structure. T h e differential diagnosis for the co m b in atio n o f absent stom ach
and polyhydram nios includes in trathoracic com pression, by conditions such as diaph
ragm atic hernia, and m uscular-skeletal anom alies causing inability o f the fetus to
swallow.
Prognosis
Survival is prim arily d e p e n d e n t o n gestation at delivery and the presence o f o th e r
anom alies. T h u s, for babies w ith an isolated tracheoesophageal fistula, b o m after 32
w eeks, w h e n an early diagnosis is m ade, avoiding reflux and aspiration pneu m o n itis,
postoperative survival is m ore than 95%.
D U O D E N A L ATRESIA
A t 5 w eeks o f em bryonic life, th e lu m e n o f th e d u o d e n u m is obliterated by proliferating
epith eliu m . T h e patency o f th e lu m en is usually restored by the 11 th w ee k and failure o f
vacuolization m ay lead to stenosis o r atresia. D u o d e n al obstruction can also be caused
b y com pression from th e su rro u n d in g annular pancreas o r by peritoneal fibrous bands.
Prevalence
D u o d en al atresia is fo u n d in a b o u t 1 p er 5000 births.
Etiology
D u o d en al atresia is a sporadic abnorm ality, although, in som e cases, there is an
autosom al recessive p attern o fin h eritan c e. A pproxim ately halfoffetuses w ith duodenal
atresia have associated abnorm alities, in clu d in g trisom y 21 (in about 40% o f fetuses) and
skeletal defects (vertebral and rib anom alies, sacral agenesis, radial abnorm alities and
talipes), gastrointestinal abnorm alities (esophageal atresia/tracheoesophageal fistula,
68
G A S T R O IN T E S T IN A L T R A C T
intestinal m alrotation, M e c k e l’s diverticu lu m and anorectal atresia), cardiac and renal
defects.
Diagnosis
Prenatal diagnosis is based o n the d em onstration o f th e characteristic ‘double b u b b le’
appearance o f the dilated stom ach and proxim al d u o d e n u m , co m m o n ly associated w ith
p olyhydram nios (see Figure 15, p. 76). H o w e v e r, o b struction due to an central w eb
m ay result in only a ‘single b u b b le ’, representing the fluid-filled stom ach. C o n tin u ity o f
the d u o d e n u m w ith th e stom ach should be dem onstrated to differentiate a distended
d u o d e n u m from o th e r cystic masses, including choledochal o r hepatic cysts. A lth o u g h
the characteristic ‘d ouble b u b b le ’ can be seen as early as 20 w eeks, it is usually n o t diag
nosed until after 25 w eeks, suggesting that the fetus is unable to sw allow a sufficient
v o lu m e o f am niotic fluid for bo w el dilatation to o ccu r before the end o f the second tri
m ester o f pregnancy.
Prognosis
Survival after surgery in cases w ith isolated duodenal atresia is m ore th an 95%.
IN TESTIN A L O B ST R U C T IO N
Intestinal obstructions are e ith e r intrinsic o r extrinsic. Intrinsic lesions result from
absent (atresia) o r partial (stenosis) recanalization o f the intestine. In cases o f atresia, the
tw o segm ents o f th e g u t m ay be eith er com pletely separated o r co n n ecte d by a fibrous
cord. In cases o f stenosis, th e lu m en o f the gut is n arro w ed o r the tw o intestinal seg
m ents are separated by a sep tu m w ith a central diaphragm . A pple-peel atresia is charac
terized by absence o f a vast segm ent o f the small bow el, w h ich can include distal
d u o d e n u m , th e entire je ju n u m and proxim al ileus. E xtrinsic obstructions are caused by
m alro tatio n o f the co lo n w ith volvulus, peritoneal bands, m e c o n iu m ileus, and agang-
liosis (H irschsprung’s disease). T h e m ost freq u en t site o f small b o w el ob stru ctio n is dis
tal ileus (35%), follow ed b y proxim al je ju n u m (30%), distal je ju n u m (20%), proxim al
ileus (15%). In ab o u t 5% o f cases, obstructions o ccu r in m ultiple sites. A norectal atresia
results from abnorm al division o f the cloaca du rin g th e 9 th w eek o f d evelopm ent.
Prevalence
Intestinal ob stru ctio n is fo u n d in ab o u t 1 p e r 2000 births; in ab o u t h alf o f the cases, there
is small b o w el o b stru ctio n and in the o th e r h alf anorectal atresia.
69
Etiology
A lth o u g h th e c o n d itio n is usually sporadic, in m ultiple intestinal atresia, familial cases
have b een described. A ssociated abnorm alities and chrom osom al defects are rare. In
contrast w ith anorectal atresia, associated defects such as genitourinary, vertebral,
cardiovascular and gastrointestinal anom alies are fo u n d in a b o u t 80% o f cases.
Diagnosis
T h e lum ens o f the small b o w el and colon do n o t norm ally exceed 7 m m and 20 m m ,
respectively. D iagnosis o f o b stru ctio n is usually m ade quite late in pregnancy (after 25
w eeks), as dilatation o f the intestinal lu m e n is slow and progressive. Jeju n al and ileal
obstructions are im aged as m ultiple fluid-filled loops o f b o w el in the ab d o m en (see Fig
u re 15, p. 76). T h e ab d o m en is usually distended and active peristalsis m ay be observed.
I f b o w el p erfo ratio n occurs, transient ascites, m eco n iu m peritonitis and m eco n iu m
pseudocysts m ay ensue. P olyhydram nios (usually after 25 weeks) is c o m m o n , especially
w ith p roxim al obstructions. Sim ilar b o w el appearances and polyhydram nios m ay be
fo u n d in fetuses w ith H irsch sp ru n g ’s disease, the megacystis—m icro co lo n —intestinal
hypoperistalsis syndrom e and congenital chloride diarrhea. W h e n considering a diag
nosis o f small bo w el o b stru ctio n , care should be taken to exclude renal tract abnorm ali
ties an d o th e r intra-ab d o m in al cysts such as m esenteric, ovarian o r d u p lication cysts. In
anorectal atresia, prenatal diagnosis is usually difficult because the proxim al b o w el may
n o t d em onstrate significant dilatation and the am niotic fluid v o lu m e is usually norm al;
occasionally calcified intralum inal m e c o n iu m in the fetal pelvis m ay be seen.
Prognosis
Infants w ith b o w el o b stru ctio n typically present in the early neonatal p e rio d w ith
sym ptom s o f v o m itin g and abdom inal distention. T h e prognosis is related to the gesta
tional age at delivery, th e presence o f associated abnorm alities and site o f o bstruction. In
those b o m after 32 w eeks w ith isolated ob stru ctio n requiring resection o f only a short
segm ent o f b o w el, survival is m o re than 95%. Loss o f large segm ents o f b o w el can lead
to short g u t syndrom e, w h ic h is a lethal condition.
H IR SC H SP R U N G ’S DISEASE
H irsch sp ru n g ’s disease is characterized by congenital absence o f intram ural parasym pa
thetic nerve ganglia in a segm ent o f the colon. It derives fro m failure o f m ig ratio n o f
neuroblasts from the neural crest to the bow el segm ents, w h ic h generally occurs
b e tw e e n th e 6th and 12th w eeks o f gestation. A n o th e r th e o ry suggests that the disease is
caused by degen eratio n o f n orm ally m igrated neuroblasts d u rin g e ith er p re - o r
postnatal life.
70
Prevalence
T h e disease occurs in ab o u t 1 in 3000 births.
Etiology
It is considered to be a sporadic disease, although in about 5% o f cases there is a familial
in heritance. In a small n u m b e r o f cases, H irschsprung’s disease is associated w ith
trisom y 21.
Diagnosis
T h e aganglionic segm ent is unable to transm it a peristaltic w ave, and therefore
m ec o n iu m accum ulates and causes dilatation o f the lu m en o f the bow el. T h e ultra
sou n d appearance is sim ilar to th at o f anorectal atresia, w h e n the affected segm ent is
colon o r rectum . P o ly h y d ram nios and dilatation o f the loops are present in the case o f
small b o w el in v o lv em en t; o n this occasion, it is n o t different from o th e r types o f
obstruction.
Prognosis
Postnatal surgery is aim ed at rem o v in g the affected segm ent and this m ay be a tw o-stage
p ro ced u re w ith tem p o rary colostom y. N eo n atal m ortality is approxim ately 20%.
M ECONIUM PE R IT O N IT IS
Intrau terin e p erfo ratio n o f th e b o w el m ay lead to a local sterile chem ical peritonitis,
w ith the d ev elo p m en t o f a dense calcified mass o f fibrous tissue sealing o ff the perfora
tion. B o w el perforation usually occurs proxim al to som e fo rm o f o bstruction, although
this can n o t always be d em onstrated.
Etiology
Intestinal stenosis o r atresia and m e co n iu m ileus account for 65% o f the cases. O th e r
causes include volvulus and M e c k e l’s diverticulum . M e c o n iu m ileus is the im p actio n o f
abnorm ally th ick an d sticky m e c o n iu m in the distal ileum , and, in the m ajority o f cases,
this is due to cystic fibrosis.
Prevalence
M e c o n iu m peritonitis is fo u n d in ab o u t 1 in 3000 births.
Diagnosis
T h e diagnosis should be co n sidered if the fetal bow el is observed to be dilated o r w h e n
ever an area o f fetal in tra-ab d o m in al h y p erechogenicity is detected. T h e lik elih o o d o f
71
perforation is increased if a th in rim o f ascites is also dem onstrated. T h e differential diag

nosis o f hyperech o g en ic b o w el includes:
(1) In tra-am n io tic h em orrhage;
(2) Early ascites;
(3) Fetal hypoxia;
(4) M e c o n iu m peritonitis; and
(5) Cystic fibrosis.
M e c o n iu m ileus an d hyperech o genic fetal b o w el at 16—18 w eeks o f gestation m ay be

present in 75% o f fetuses w ith cystic fibrosis. T h e prevalence o f cystic fibrosis in fetuses
w ith prenatal diagnosis o f intestinal ob stru ctio n m ay be about 10%. T h erefo re, w h e n
o th e r causes o f b o w el hy p erech ogenicity have b een excluded, D N A studies for cystic
fibrosis should be considered.
Prognosis
M e c o n iu m peritonitis is associated w ith a m ore than 50% m ortality in the neonatal
period.
H EPATOSPLENO M EG ALY
T h e fetal liver and spleen can be m easured by ultrasonography. Causes o f h e p ato -
splenom egaly include im m u n e and n o n -im m u n e hydrops, congenital infection and
m etabolic disorders, and it is seen in B eck w ith —W ie d em a n n and Z ellw eg er syndrom es.
H epatic enlargem ent m ay also be caused by hem angiom a, w h ich is usually h y p o -
echogenic, o r hepatoblastom a (the m ost fre q u en t m alignant tu m o r in fetal life), in
w h ic h there are areas o f calcification.
H EPATIC CALCIFICATIONS
H epatic calcifications are echogenic foci in the parenchym a o r the capsule o f the liver.
Prevalence
H epatic calcifications are fo u n d at m id -trim e ste r ultrasonography in ab o u t 1 per 2000
fetuses.
72
Etiology
T h e vast m ajority o f cases are idiopathic b u t, in a few cases, hepatic calcifications have
b een fo u n d in association w ith congenital infections and chrom osom al abnorm alities.
Diagnosis
Solitary o r m ultiple echogenic foci (1—2 m m in diam eter) are observed w ith in the sub
stance o f the liver o r in th e capsule.
Prognosis
T his depends o n the presence o f associated infection o r chrom osom al defects. Isolated
foci are o f no pathological significance.
ABD O M IN A L CYSTS
A bdom inal cystic masses are freq u en t findings at ultrasound exam ination. R e n a l tract
anom alies o r dilated b o w e l are the m ost co m m o n explanations, although cystic struc
tures m ay arise fro m th e biliary tree, ovaries, m esentery o r uterus. T h e correct diagnosis
o f these abnorm alities m ay n o t be possible by ultrasound exam ination, b u t the m ost
likely diagnosis is usually suggested by the position o f the cyst, its relationship w ith
o th e r structures and th e norm ality o f o th e r organs.
Choledochal cysts
C h o led o ch al cysts represent cystic dilatation o f the c o m m o n biliary duct. T h e y are u n
c o m m o n and th e ir etiology is u n k n o w n . Prenatally, the diagnosis m ay be m ade
ultrasonographically b y th e d em o n stratio n o f a cyst in the u p p er right side o f the fetal
abdom en. T h e differential diagnosis includes enteric duplication cyst, liver cysts, situs
inversus o r d u o d en al atresia. T h e absence o f polyhydram nios o r peristalsis m ay help to
differentiate th e c o n d itio n fro m bow el disorders. Postnatally, early diagnosis and
rem oval o f the cyst m ay avoid the dev elo p m en t ofb iliary cirrhosis, portal hypertension,
calculi fo rm ation o r ad enocarcinom a. T h e operative m ortality is ab o u t 10%.
Ovarian cysts
O varian cysts are c o m m o n and th ey m ay be fo u n d in up to o n e -th ird o f new borns at
autopsy, alth o u g h th e y are usually small and asym ptom atic. Fetal ovarian cysts are
horm o n e-sen sitiv e (h u m an ch o rio n ic gon ad o tro p in fro m the placenta) and te n d to
o ccu r after 25 w eeks o f gestation; they m ore c o m m o n in diabetic o r rhesus iso
im m u n ized m others as a result o f placental hyperplasia. T h e m ajority o f cysts are benign
and resolve spontaneously in the neonatal period. P o ten tial com plications include
d ev elo p m en t o f ascites, to rsio n, infarction o r rupture. Prenatally, the cysts are usually
73
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 1 8 -2 3 -W EEK SCAN
unilateral and unilo cu lar, alth o u gh, if the cyst undergoes torsion o r hem orrhage, the
appearance is co m p lex o r solid. Large ovarian cysts can be found in association w ith
polyhydram nios, possibly as a consequence o f com pression o f the bow el. O bstetric
m an ag em en t should n o t be changed, unless an en o rm o u s o r rapidly enlarging cyst is
d etected o r th ere is associated polyhydram nios; in these cases, prenatal aspiration m ay
be considered. A difficult differential diagnosis is fro m h y d ro m etrocolpos, w h ic h also
presents as a cystic o r solid mass arising fro m the pelvis o f a fem ale fetus. O th e r
g en ito u rin ary o r gastrointestinal anom alies are c o m m o n and include renal agenesis,
polycystic kidneys, esophageal atresia, duodenal atresia and im perforate anus. M ost
cases are sporadic, alth o u g h a few cases are genetic, such as the autosom al recessive
M cK u sick -K au fm an syndrom e w ith hyd ro m etro co lp o s, polydactyly and congenital
heart disease.
Mesenteric or om ental cysts

M esenteric o r o m en tal cysts m ay represent obstructed lym phatic drainage o r lym phatic
ham artom as. T h e fluid co n ten ts m ay be serous, chylous o r hem orrhagic. A ntenatally,
the diagnosis is suggested by the finding o f a m ultiseptate o r unilocular, usually
m id -lin e, cystic lesion o f variable size; a solid appearance m ay be secondary to h e m o r
rhage. A ntenatal aspiration m ay be considered in cases o f massive cysts resulting in
thoracic com pression. Postnatal m anagem ent is conservative and surgery is reserved for
cases w ith sym ptom s o f b o w el ob struction o r acute abdom inal pain follow ing torsion or
hem o rrh ag e in to a cyst. C o m p lete excision o f cysts m ay n o t be possible because o f the
p ro x im ity o f m ajo r b lo o d vessels and in up to 20% o f cases there is recurrence after
surgery. A lth o u g h m alignant change in m esenteric cysts has been described, this is rare.
H epatic cysts
H epatic cysts are typically located in the right lobe o f the liver. T h e y are quite rare and
result fro m o b stru c tio n o f the hepatic biliary system. T h e y appear as unilocular,
intrahepatic cysts, and th e y are usually asym ptom atic, alth o u g h rarely m ay show c o m
plications such as infections o r hem orrhages. In 30% o f the cases o f polycystic kidneys
(adult type), asym ptom atic hepatic cysts m ay be associated.
Intestinal duplication cysts

T hese are q u ite rare, and m ay be located along the entire gastrointestinal tract. T h ey
sonographically appear as tu b u lar o r cystic structures o f variable size. T h e y m ay be iso
lated o r associated w ith o th e r gastrointestinal m alform ations. D ifferential diagnosis
includes o th e r in tra-ab d o m in al cystic structures and also b ro n ch o g en ic cysts, ad eno
m atoid cystic m alform ation o f the lung and pulm onary sequestration. T hickness o f the
74
m uscular w all o f the cysts and presence o f peristalsis m ay facilitate the diagnosis.
Postnatally, surgical rem oval is carried out.
Anom alies o f the umbilical vein

A bnorm alities o f th e um bilical v ein , w h ic h are very rare, can be divided in three
groups:
(1) Persistence o f the right um bilical vein w ith ductus venosus and presence o r absence
o f left um bical vein;
(2) A bsence o f the ductus venosus w ith extrahepatic insertion o f the um bilical vein;
and
(3) D ilated um bilical vein w ith norm al insertion.
N orm ally, the um bilical vein enters the abd o m en alm ost centrally at the level o f the
liver and courses o n the left o f the gallbladder. Persistence o f the right um bilical vein is
d em onstrated by the fact that it is localized o n the right o f the gallbladder, b en d in g
tow ards the stom ach. C o lo r D o p p le r m ay help to diagnose these .anom alies and m ay
allow the differential diagnosis w ith o th e r cystic abdom inal lesions. A ssociated an o m a
lies are freq u en t in anom alies o f the first tw o groups and this influences the prognosis.
T hese anom alies include cardiac, skeletal, gastrointestinal and urinary anom alies. T h e
anom alies o f the th ird g ro u p are rarely associated w ith o th e r anom alies, and prognosis
depends o n the tim e at diagnosis and d im ension o f the varicosity.
75
DIAGNOS IS OF FETAL ABN ORM ALITIES: T H E 18-23-WEEK SCAN
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Defects of the gastrointestinal tract

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76
Kidneys and urinary tract
T h e kidneys and adrenals, lo cated b elo w the level o f the stom ach, o n e ith er side and
an terio r to the spine, are visible by ultrasonography from as early as 9 w eeks o f gestation
and in all cases from 12 w eeks. T h e renal echogenicity is high at 9 w eeks b u t decreases
w ith gestation; the adrenals appear as translucent structures w ith an echodense cortex.
L ongitudinal and transverse sections o f the abdom en can be used to study the
kidneys. In a longitudinal scan, kidneys appear as elliptical areas, w hile o n transverse
scan they appear as ro u n d ish structures at b o th sides o f the spine. T h e kidneys appear
slightly hypoech o ic, co m p ared to the liver and b o w el loops. A t 20 w eeks, the kidneys
show a hyperechoic capsule and the cortical area is slightly m ore ech ogenic th an the
m edulla. W ith progressing gestation, fat tissue accum ulates aro u n d the kidneys, e n
h an cin g the borders o f th e kidneys in contrast w ith the o th e r splanchnic organs. A t
26—28 w eeks, renal pyram ids can be d etected , and the arcuate arteries can be seen
pulsating in th eir proxim ity. B o th the renal len g th and circum ference increase w ith ges
tation, b u t the ratio o f renal to abdom inal circum ference rem ains approxim ately 30%
th ro u g h o u t pregnancy. T h e an tero p o sterio r diam eter o f the renal pelvis should be
< 5 m m at 15—19 w eeks, < 6 m m at 20—29 w eeks and < 8 m m at 30—40 w eeks. T h e
norm al ureters are rarely seen in the absence o f distal obstruction o r reflux. T h e fetal
bladder can be visualized fro m the first trim ester (in about 80% o f fetuses at 11 w eeks
and m ore than 90% by 13 w eeks); changes in v o lu m e o v er tim e help to differentiate it
from o th e r cystic pelvic structures.
RENAL AGENESIS
R e n a l agenesis is th e consequence o f failure o f differentiation o f the m etanephric
blastem a d u rin g th e 25—2 8 th day o f d ev elo p m en t and b o th ureters and kidneys and
renal arteries are absent.
77
Prevalence
Bilateral renal agenesis is fo u n d in 1 p er 5000 births, w hile unilateral disease is fo u n d in
1 p er 2000 births.
Etiology
R e n a l agenesis is usually an isolated sporadic abnorm ality b u t, in a few cases, it m ay be
secondary to a chrom osom al abnorm ality o r part o f a genetic syndrom e (such as Fraser
syndrom e), o r a d evelopm ental defect (such as V A C T E R L association). In n o n -
syndrom ic cases, th e risk o f recu rren ce is approxim ately 3%. H o w e v e r, in ab o u t 15% o f
cases, o n e o f the parents has unilateral renal agenesis and in these families the risk o f
recu rren ce is increased.
Diagnosis
A ntenatally, the co n d itio n is suspected by the co m b in atio n o f anhydram nios (from 17
weeks) and e m p ty fetal b ladder (from as early as 14 w eeks). E x am ination o f the renal
areas is often h am p ered by th e oligohydram nios and the ‘c ru m p led ’ position ad o pted by
these fetuses, and care should be taken to avoid the m istaken diagnosis o f perirenal fat
and large fetal adrenals for th e absent kidneys. T h e differential diagnosis is fro m p reterm
ru p tu re o f m em branes, severe uteroplacental insufficiency and obstructive u ro p ath y o r
bilateral m ulticystic o r polycystic kidneys. Vaginal sonography w ith hig h -freq u en cy ,
hig h -reso lu tio n probes is useful in these cases. Failure to visualize th e renal arteries w ith
co lo r D o p p le r is an o th er im p o rta n t clue to th e diagnosis in dubious cases, b o th w ith b i
lateral and unilateral agenesis. P renatal diagnosis o f unilateral renal agenesis is difficult
because th ere are n o m ajor features, such as anhydram nios and em p ty bladder, to alert
th e ultraso n o g rap h er to th e fact that one o f the kidneys is absent.
Prognosis
Bilateral renal agenesis is a lethal co n d itio n , usually in th e neonatal p erio d due to p u l
m on ary hypoplasia. T h e prognosis w ith unilateral agenesis is norm al.
INFANTILE POLYCYSTIC K IDN EY DISEASE (P O T T E R

TYPE I)
In this co n d itio n , the m arkedly enlarged kidneys are filled w ith n u m erous cortical cysts
and dilated collecting ducts. T h e disease has a w id e spectrum o f renal and hepatic
in v o lv em en t and it is subdivided in to perinatal (this is the m ost co m m o n ), neonatal, in
fantile and ju v e n ile types o n th e basis o f the age o f onset o f the clinical presentation
and the degree o f renal tu b u lar involvem ent. A lth o u g h recurrences te n d to be
78
K IDNEYS A N D U R IN A R Y T R A C T
group-specific, w e have seen o n e family in w h ich the fo u r subdivisions w ere each rep
resented in the fo u r affected infants.
Prevalence
Infantile polycystic k id n ey disease is fo u n d in a b o u t 1 per 30 000 births.
Etiology
T his is an autosom al recessive co n d itio n . T h e responsible gene is in the short arm o f
ch ro m o so m e 6 an d prenatal diagnosis in families at risk can be carried o u t by
first-trim ester ch o rio n villous sam pling.
Diagnosis
Prenatal diagnosis is confin ed to the types w ith earlier onset (perinatal and probably the
neonatal types) and is based on the dem o n stratio n o f bilaterally enlarged and h o m o
geneously hyperech o g en ic kidneys (see Figure 16, p. 85). T h ere is often associated
oligohydram nios, b u t this is n o t invariably so. T hese sonographic appearances, h o w
ever, m ay n o t b eco m e apparent before 24 w eeks o f gestation and, therefore, serial scans
should be p erfo rm ed fo r exclusion o f the diagnosis.
Prognosis
T h e perinatal type is lethal e ith e r in utero o r in the neonatal perio d due to pulm onary
hypoplasia. T h e n eonatal type results in death due to renal failure w ith in the 1st year
o f life. T h e infantile and ju v e n ile types result in chronic renal failure, hepatic fibrosis
and portal h y p ertension; m any cases survive in to th eir teens and require renal
transplantation.
M ULTICYSTIC DY SPLASTIC K IDN EY DISEASE

(P O T T E R TYPE II)
M ulticystic dysplastic k id n ey disease is th o u g h t to be a consequence o f e ith e r d ev elop
m ental failure o f th e m eso n ep hric blastem a to fo rm nephrons o r early ob stru ctio n due
to u rethral o r ureteric atresia. T h e collecting tubules beco m e cystic and the diam eter o f
the cysts d eterm ines th e size o f the kidneys, w h ich m ay be enlarged o r small. E xplora
tio n o f th e renal fossa in som e cases reveals no renal artery, renal v ein, u re te r o r cysts,
suggesting that renal agenesis and dysplastic kidneys m ay be at different ends o f a spec
tru m o f renal m alform ation. T his is fu rth er su pported by the finding that, in ab o u t 15%
o f cases w ith m ulticystic kidneys, there is contralateral renal agenesis.
79
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18-23-W E EK SCAN
Prevalence
M ulticystic dysplastic kid n ey disease is fo u n d in ab o u t 1 p er 1000 births.
Etiology
In the m ajority o f cases, this is a sporadic abnorm ality b u t ch rom osom al abnorm alities
(m ainly trisom y 18), genetic syndrom es and o th e r defects (mainly cardiac) are present in
ab o u t 50% o f the cases.
Diagnosis
U ltrasonographically, th e kidneys are replaced by m ultiple irregular cysts o f variable
size w ith in terv en in g h y p erech ogenic strom a (see Figure 16, p. 85). T h e disorder can
be bilateral, unilateral o r segm ental; if bilateral, there is associated anhydram nios and the
bladder is ‘absent’.
Prognosis
Bilateral m ulticystic dysplastic k id n ey disease is fatal before o r soon after b irth , due to
pu lm o n ary hypoplasia. U nilateral disease is associated w ith a norm al prognosis. T h e re is
still controversy in the postnatal m an agem ent o f patients w ith a m ulticystic kidney;
som e urologists advocate prophylactic n ep h recto m y , b u t the m ajority ad o p t an expec
tant approach because th e k id n ey gradually shrinks and m ay disappear. T h e parents
and family should also be scanned to exclude autosom al d o m in a n t b ran ch io -to -ren a l
syndrom e.
PO T T E R TYPE III REN AL DYSPLASIA

P o tte r type III renal dysplasia is characterized by m arkedly enlarged irregular kidneys
w ith innum erab le cysts o f variable sizes interspersed am ong norm al o r com pressed renal
parenchym a. It is the c o m m o n m orphological expression o f autosom al d o m in an t adult
polycystic k idney disease (A PK D) and o f o th e r M endelian disorders such as tuberous
sclerosis, Je u n e syndrom e, S tu rg e -W e b e r syndrom e, Z ellw eger syndrom e, L aw rence
M o o n B iedl syndrom e and M eckel—G ru b e r syndrom e. B o th kidneys are generally
equally enlarged and on ly rarely is one involved so slightly th at it rem ains o f norm al size.
O n e -th ird o f th e cases have cysts in the liver, pancreas, spleen o r lungs and o n e-fifth are
fo u n d to have cerebral aneurysm s.
A du lt polycystic kidney disease (A P K D )

O n e in 1000 people carry th e A P K D m u ta n t gene. A dult polycystic k id n ey disease is
usually asym ptom atic u n til the th ird o r fourth decade o f life, and, although histological
80
KIDNEY S A N D U R IN A R Y T R A C T
evidence o f the disease is likely to be present fro m in trau terin e life, the age o f onset o f
gross m o rphological changes th at are potentially detectable by ultrasonography is u n
certain. R arely , h o w ev er, kidneys that are anatom ically sim ilar m ay cause death in
infancy o r early ch ild h o o d and the co n d itio n has b een designated as ‘adult variety
o ccu rrin g in infancy’.
Prenatal diagnosis by u ltrasonography is co n fined to a few case reports and the

kidneys have b een described as enlarged and hyperechogenic w ith o r w ith o u t m ultiple
cysts (see Figure 16, p. 85). U n lik e infantile polycystic kidneys, w h e re th ere is a loss o f
th e cortico m ed u llary ju n c tio n , in A P K D th ere is accentuation o f this ju n c tio n . T h e
am niotic fluid v o lu m e is e ith er norm al o r reduced. T h e k idney size is usually smaller
than that o f the infant polycystic kidneys. In counselling affected parents w ith A P K D , it
should be em phasized th at the prenatal d em onstration o f sonographically norm al
kidneys does n o t necessarily exclude the possibility o f developing polycystic kidneys in
adult life. N evertheless, prenatal diagnosis can n o w be m ade fro m ch o rio n villous
sam pling and D N A analysis.
O BSTR U C TIV E UR O PA TH IES

T h e te rm ‘obstructive u ro p a th y ’ encom passes a w ide variety o f different pathological
con d itio n s characterized by dilatation o f part o r all o f the urinary tract. W h e n the
o b stru ctio n is co m p lete and occurs early in fetal life, renal hypoplasia (deficiency in total
n ep h ro n population) and dysplasia (P otter type II; form atio n o f abnorm al nephrons and
m esenchym al strom a) ensue. O n the o th e r hand, w h ere in te rm itte n t ob stru ctio n allows
for norm al renal d ev elo p m en t, o r w h e n it occurs in the second h alf o f pregnancy,
hydronephrosis w ill result an d the severity o f the renal dam age w ill d ep en d o n the
degree and d u ratio n o f th e o b struction. D ilatation o f the fetal urinary tract frequently,
b u t n o t absolutely, signifies o bstruction. C onversely, a fetus w ith ob stru ctio n m ay n o t
have any urinary tract dilatation.
Hydronephrosis
V arying degrees o f pelvicalyceal dilatation are fo u n d in ab o u t 1% o f fetuses. M ild
hydronephrosis o r pyelectasia is defined by the presence o f an an tero p o sterio r diam eter
o f th e pelvis o f > 4 m m at 1 5 -1 9 w eeks, > 5 m m at 20—29 w eeks a n d > 7 m m at 30—40
w eeks. T ran sien t h y dronephrosis m ay be due to relaxation o f sm o o th m uscle o f the u ri
nary tract by the h ig h levels o f circulating m aternal ho rm o n es, o r m aternal-fetal
overh y d ratio n . In th e m ajority o f cases, the co n d itio n rem ains stable o r resolves in the
n eonatal p eriod. In ab o u t 20% o f cases, there m ay be an un d erly in g ureteropelvic ju n c
tio n o b stru ctio n o r vesicoureteric reflux th at requires postnatal fo llo w -u p and possible
surgery.
81
M o d erate h ydronephrosis, characterized by an an tero p o sterio r pelvic d iam eter o f

m ore than 10 m m and pelvicalyceal dilatation, is usually progressive and in m o re than
50% o f cases surgery is necessary d u rin g the first 2 years o f life.
Ureteropelvic junction obstruction

T his is usually sporadic and, although in som e cases there is an anatom ic cause, such as
ureteral valves, in m ost instances the underlying cause is th o u g h t to be functional. In
80% o f cases, th e co n d itio n is unilateral. Prenatal diagnosis is based o n the dem onstra
tio n o f hyd ro n ep h ro sis in the absence o f dilated ureters and bladder. T h e degree o f
pelvicalyceal d ilatation is variable and, occasionally, perinephric urinom as and urinary
ascites m ay b e present. Postnatally, renal function is assessed by serial isotope im aging
studies and, if th ere is d eterio ration, pyeloplasty is perform ed. H o w e v e r, th e m ajority o f
infants have m o d erate o r g o o d function and can be m anaged expectantly.
Ureterovesical junction obstruction

T his is a sporadic abnorm ality characterized by hydronephrosis and h y d ro u rete r in the
presence o f a n o rm al bladder. T h e dilated u re te r is to rtu o u s, and o n ultrasound appears
as a collectio n o f cysts o f variable size, localized b etw een the renal pelvis, w h ic h is vari
ably dilated, and the bladder, w hich is o f norm al m o rp h o lo g y and dim ensions. T h e
etiology is diverse, in clu d in g u reteric stricture o r atresia, retrocaval u reter, vascular
o b stru ctio n , valves, diverticulum , ureterocele, and vesicoureteral reflux. U reteroceles
(visible as a th in -w alled and fluid-filled small circular area inside the bladder) are usually
fo u n d in association w ith duplication o f the collecting system. In ureteral duplication,
th e u p p er pole m o ie ty characteristically obstructs and the lo w e r one refluxes. T h e
dilated u p p e r pole m ay enlarge to displace the n o n -d ilate d lo w er pole inferiorly and
laterally.
Vesicoureteric rejlux
T his sporadic abn o rm ality is suspected w h e n in te rm itte n t dilatation o f the u p p er u ri
nary tract o v er a short p e rio d o f tim e is seen o n ultrasound scanning. O ccasionally, in
massive v esicoureteric reflux w ith o u t obstruction, the bladder appears persistently
dilated because it em pties b u t rapidly refills w ith refluxed urine. P rim ary m egaureter
can be distinguished fro m ureterovesical ju n c tio n ob stru ctio n by the absence o f signifi
cant hydronephrosis.
M egacystis—microcolon—intestinal hypoperistalsis syndrome (M M IH S)

T h is is a sporadic abnorm ality characterized by a massively dilated bladder and
h y dronephrosis in th e presence o f norm al o r increased am niotic fluid; the fetuses are
82
KIDNEY S A N D U R IN A R Y T R A C T
usually fem ale. T h e re is associated sh o rten in g and dilatation o f the proxim al small
b ow el, and m icro co lo n w ith absent o r ineffective peristalsis. T h e co n d itio n is usually
lethal d u e to b o w el and renal dysfunction.
Urethral obstruction
U reth ral o b stru ctio n can be caused by urethral agenesis, persistence o f the cloaca, u re
thral stricture o r po sterio r u rethral valves. P o sterior urethral valves o c cu r only in males
and are th e co m m o n e st cause o f bladder o u tlet o bstruction. T h e co n d itio n is sporadic
and is fo u n d in a b o u t 1 in 3000 m ale fetuses. W ith p o sterio r urethral valves, there is
usually in co m p lete o r in te rm itte n t o b struction o f the u rethra, resulting in an enlarged
and h y p e rtro p h ie d bladder w ith varying degrees o f hydroureters, hydronephrosis, a
sp ectru m o f renal hypoplasia and dysplasia, oligohydram nios and pu lm o n ary h y p o
plasia. In som e cases, th ere is associated urinary ascites from ru p tu re o f the bladder o r
transudation o f urine in to the peritoneal cavity.
Fetal therapy fo r obstructive uropathy

In fetal lam b, u reteric ligation d u ring the first h alf o f gestation results in dysplastic
kidneys, w hereas, in th e second h a lf o f pregnancy, ureteric ligation is associated w ith
the d ev elo p m en t o f h y dronephrosis b u t preservation o f renal architecture. L igation o f
th e u reth ra and urachus in fetal lam bs at 100 days o f gestation causes severe h y d ro
nephrosis and p u lm o n ary hypoplasia; decom pression by suprapubic cystostom y at 120
days’ gestation reduces the urinary tract dilatation and im proves the survival rate. Sim i
larly, ureteric ligation at 65 days o f gestation produces renal dysplasia, and subsequent
decom pression p rio r to te rm prevents renal dysplasia and produces reversible post
obstructive changes; the degree o f renal dam age is pro p o rtio n al to the length o f tim e for
w h ich th e o b stru ctio n existed.
E n co u rag ed by th e results o f these anim al studies, and on the assum ption that u n
relieved o b stru ctio n causes progressive renal and pu lm o n ary dam age, several investiga
tors in th e 1980s p e rfo rm e d in utero decom pression o f the urinary tract in the h um an,
eith er b y o p en surgical diversion o r by the ultraso u n d -g u id ed in sertion o f suprapubic
vesico-am niotic catheters. A lth o u g h these techniques d em onstrated the feasibility o f
in trau terin e surgery, they did n o t provide conclusive evidence that such in terv e n tio n
im proves renal o r p u lm o n ary fu n ctio n b ey o n d w h at can be achieved by postnatal
surgery. It is possible that, in a few selected cases, in trau terin e in te rv e n tio n m ay be
beneficial.
83
Assessm ent o f fe ta l renal function

A ntenatal evaluation o f renal function relies o n a co m b in atio n o f ultrasonographic find
ings and analysis o f fetal urine ob tain ed by urodochocentesis o r pyelocentesis. P o o r
prognostic signs are:
(1) T h e presence o f bilateral m ulticystic o r severely h y d ro n e p h ro tic kidneys w ith

echogenic kidneys, suggestive o f renal dysplasia;
(2) A nhydram nios im plying co m plete urethral obstruction; and
(3) H ig h u rinary sodium , calcium and (32 m icroglobulin levels.
P otential candidates for in trau terin e surgery are fetuses w ith bilateral m oderately severe
pelvicalyceal dilatation and norm al cortical echogenicity, o r severe megacystis and
oligohydram nios, or n o rm al levels o f urinary sodium , calcium and (32 m icroglobulin.
84
Normal kidneys
85
KI DNEYS A N D U R I N A R Y T R A C T
Figure 16 Abnorm alities of the kidneys and urinary tract
Skeleton
Gianluigi Pilu and Roberto Romero
NO RM AL SO N O G R A PH IC A N A T O M Y
Lim b buds are first seen by u ltrasound at ab o u t the 8 th w ee k o f gestation; the fem u r and
hum erus are seen from 9 w eeks, the tib ia/fibula and rad iu s/u ln a from 10 w eeks and the
digits o f th e hands an d th e feet fro m 11 w eeks. All long bones are consistently seen from
11 w eeks. B ody m o v em en ts (wiggling) are seen at 9 w eeks and, by 11 w eeks, lim bs
m o v e ab o u t readily. T h e lengths o f the hum erus, rad iu s/u ln a, fem u r and tibia/fibula
are similar and increase linearly w ith gestation. A t the 18—2 3 -w e e k scan, the three seg
m ents o f each ex trem ity should be visualized, b u t it is only necessary to m easure the
len g th o f one fem ur. T h e relationship o f leg and fo o t should also be assessed to rule o u t
clubfoot.
SKELETAL ANOM ALIES

Prevalence
Skeletal dysplasia is fo u n d in ab o u t 1 p er 4000 births; ab o u t 25% o f affected fetuses are
stillborn and ab o u t 30% die in the neonatal period. T h e b irth prevalences o f the m ost
c o m m o n dysplasias are sh o w n in the T able o n the n ex t page.
Classification
T h e existing n o m en clatu re fo r skeletal dysplasias is com plicated. Som e disorders are
referred to b y eponym s (such as Ellis—V an C rev eld syndrom e), by G reek term s describ
in g a salient feature o f th e disease (diastrophic o r tw isted, m etatro p h ic o r changeable) or
by a te rm related to th e p resum ed pathogenesis o f the disease (such as osteogenesis
im perfecta). T h e fundam en tal p ro b lem w ith any classification o f skeletal dysplasias is
th at th e pathogenesis o f these diseases is largely u n k n o w n and, therefore, th e c u rren t
system relies o n p urely descriptive findings o f either clinical o r radiological nature.
A ccording to th e In tern atio n al N o m en c latu re for Skeletal Dysplasias, the diseases are
subdivided in to th ree different groups:
87
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 1 8-23-W EEK SC A N
Birth prevalence
Lethal dysplasias
Thanatophoric dysplasia 1 in 10 000
Achondrogenesis 1 in 40 000
Osteogenesis imperfecta, type II 1 in 60 000
Congenital hypophosphatasia 1 in 100 000
Chondrodysplasia punctata 1 in 110 000
N on-lethal dysplasias
Heterozygous achondroplasia 1 in 30 000
Osteogenesis imperfecta, type I 1 in 30 000
Asphyxiating thoracic dysplasia 1 in 70 000
(1) O steochondrodysplasias (abnorm alities o f cartilage and / o r b o n e g ro w th and

d evelo p m en t);
(2) D isorganized d ev elo p m en t o f cartilaginous and fibrous co m p o n en ts o f the skele

to n ; and
(3) Idiopathic osteolyses.
Approach to prenatal diagnosis

T h e re is a w ide range o f rare skeletal dyplasias, each w ith a specific recu rren ce risk,
dysm orphic expression, and im plications for neonatal survival and quality o f life. O u r
k n o w led g e o f th e in utero expression o f these syndrom es is based o n a few case reports
and, th erefo re, in a ttem p tin g to p erfo rm prenatal diagnosis o f individual co nditions in
at-risk families, extrapolation o f findings from the perinatal perio d is often necessary.
T h e incid en tal discovery o f a skeletal dysplasia on ro u tin e ultrasound screening, in a
p reg n an cy n o t k n o w n to be at risk o f a specific syndrom e, necessitates a system atic
ex am in atio n to arrive at th e co rrect diagnosis. All lim bs m ust be evaluated (see Figure
17, p. 97) as to th e ir length, shape, m ineralization and m o v e m en t, and associated ab n o r
m alities in o th e r systems, particularly the head, thorax and spine, should be sought.
Assessm ent o f long bones

S h o rten in g o f th e extrem ities can involve the entire lim b (m icrom elia, such as
achondrogenesis, sh o rt-rib polydactyly syndrom e, diastrophic dysplasia osteogenesis
im perfecta type II), th e p roxim al segm ent (rhizom elia, such as achondroplasia), the
in term ed iate segm ent (m esom elia, such as m esom elic dysplasia) o r the distal segm ent
(acrom elia, such as E llis-V an C reveld syndrom e). T h e diagnosis o f rhizom elia o r
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SK ELETO N
m esom elia requires com parison o f the dim ensions o f the bones o f the leg and forearm
w ith those o f the thig h and arm . T h e fem ur, h o w ev er, is abnorm ally short even in
m esom elic dw arfism and, th erefore, in o u r ro u tin e fetal abnorm ality screening, w e ten d
to confine lim b m easurem ents to that o f the fem ur. W h e n dealing w ith pregnancies at
risk for a skeletal dysplasia, b o th segm ents o f all lim bs are m easured.
T h e severe lim b red u ctions associated w ith osteogenesis im perfecta type II,
achondrogenesis and th a n a to p h o ric , diastrophic, and ch o n d ro ecto d erm al dysplasias
can be d etected by a single m easurem ent o f the fem u r length at 16—18 w eeks o f gesta
tion. In the case o f achondroplasia, how ever, the diagnosis m ay n o t beco m e obvious
until 22—24 w eeks and, th erefore, serial m easurem ents are necessary; hom ozygous
achondroplasia, w h ic h is usually lethal, manifests in abnorm ally short lim bs earlier than
th e heterozygous form .
A m in o r degree o f lateral curvature o f the fem ur is co m m o n ly seen in norm al

fetuses. P ro n o u n c e d b o w in g , how ever, is observed in association w ith cam pom elic
dysplasia, th an ato p h o ric dw arfism , autosom al d o m in an t osteogenesis im perfecta,
achondrogenesis an d hypophosphatasia. In the latter, fractures and callus form ation m ay
also be detected. R e d u c e d echogenicity o f bones, suggestive o f hypom ineralization, is
seen in such disorders as hypophosphatasia, osteogenesis im perfecta and
achondrogenesis. T h e virtual absence o f ossification o f the spine, characteristic o f
achondrogenesis, m ay lead to the erroneous diagnosis o f com plete spinal agenesis.
Similarly, th e p ro n o u n c e d clarity w ith w h ich the cerebral ventricles are im aged, as a
result o f the p o o rly m ineralized globular cranium in cases o f hypophosphatasia, may
result in the m isdiagnosis o f hydrocephalus. C are m ust be exercised, how ever, because
lesser degrees o f h y p o m in eralization m ay n o t be detectable.
Isolated lim b re d u c tio n deform ities, such as am elia (com plete absence o f ex trem i
ties), acheiria (absence o f th e hand), phocom elia (seal lim b) o r aplasia—hypoplasia o f the
radius o r ulna, are often in h e rited as part o f a genetic syndrom e (H olt—O ra m syndrom e,
Fanconi pancytopenia, th ro m b o c y to p en ia w ith absent radii syndrom e) and are readily
diagnosible by u ltrasonography in an at-risk fetus. O th e r causes o f focal lim b loss
include th e am niotic b a n d syndrom e, thalidom ide exposure and caudal regression
syndrom e.
Evaluation o f hands and fe e t

Fetal fingers and toes can be seen, and, w ith m eticulous exam ination, abnorm alities o f
n um bers, shape, m o v e m e n t and attitudes can be recognized. Several skeletal dysplasias
feature alterations o f th e hands and feet. Polydactyly refers to the presence o f m ore than
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five digits. It is classified as postaxial if the extra digits are o n the ulnar o r fibular side and
preaxial if th ey are located o n th e radial o r tibial side. Syndactyly refers to soft tissue o r
b o n y fusion o f adjacent digits. C linodactyly consists o f deviation o f a finger(s). D isp ro
p o rtio n b e tw e e n hands and feet and th e o th e r parts o f the extrem ity m ay also be a sign o f
a skeletal dysplasia.
Exam ination o f fe ta l movements

M aternal p ercep tio n o f fetal m o v em en ts is usually decreased in fetuses w ith skeletal
dysplasias, such as achondrogenesis and than ato p h o ric dysplasia. U ltrasonography can
aid in the diagnosis o f conditions characterized by lim itation o f flexion o r extension o f
th e lim bs, such as arthrogryposis and m ultiple ptery g iu m syndrom e.
Evaluation o f thoracic dimensions

Several skeletal dysplasias are associated w ith a small thorax, and chest restriction leads
to p u lm o n ary hypoplasia, w h ic h is the c o m m o n cause o f death in these co nditions (see
Figure 18, p. 98). T h e appropriateness o f thoracic dim ensions can be assessed by
m easuring the thoracic circum ference at the level o f the fo u r-ch a m b er v iew o f the heart
and exam ining the th o ra c ic -to -ab d o m in a l circum ference ratio, the th o ra c ic -to -h ea d
circum ference ratio, o r th e th o racic-to -card iac circum ference ratio.
Skeletal dysplasias associated w ith a lo n g n arrow th o rax include asphyxiating

thoracic dysplasia (Jeune), ch o n d ro ec to d erm a l dysplasia (Ellis—Van C reveld), cam po
m elic dysplasia, Jarch o —L evin syndrom e, achondrogenesis and hypophosphatasia.
Dysplasias w ith a short th o rax include osteogenesis im perfecta (type II), K niest’s
dysplasia (m etatrophic dysplasia type II) and P ena—S hokeir syndrom e. H ypoplastic
thorax is fo u n d in sh o rt-rib polydactyly syndrom e (type I, type II), th anatophoric
dysplasia, cereb ro co sto m an d ib ular syndrom e, cleidocranial dysostosis syndrom e,
hom ozy g o u s achondroplasia, M elnick—N eedles syndrom e (osteodysplasty), fib ro ch o n -
drogenesis and otopalatodigital syndrom e type II.
Evaluation o f the fe ta l head

Several skeletal dysplasias are associated w ith defects o f m em branous ossification and,
therefore, affect skull bones. T h e face should also be exam ined for the diagnosis o f
hypertelorism , m icrognathia, short u p p e r lip, and abnorm alities o f the ears.
Diagnostic tests complementary to sonography

Prenatal o r postnatal evaluation includes chrom osom al studies, biochem ical investiga
tions (e.g. hypophosphatasia) and D N A analysis for an increasing n u m b e r o f the
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SK ELETO N
osteochondrodysplasias. PostnataUy, exam ination o f skeletal radiographs is o f particular

im p o rtan ce, since the classification o f skeletal dysplasias is largely based u p o n radio-
graphic findings.
O ST E O C H O N D R O D Y SPL A SIA S
Thanatophoric dysplasia
T his is the m ost c o m m o n lethal skeletal dysplasia w ith a b irth prevalence o f ab o u t 1 in
10 000. T h e term derives from the G reek, m eaning d eath -b earin g and the characteris
tic features are severe sh o rten in g o f the limbs, n arro w th o rax , norm al tru n k length and
large head w ith p ro m in e n t forehead. In type I, w h ich is sporadic, the fem urs are curved
(telephone receiver) and in type II, w h ich is autosom al recessive, the fem urs are straight
b u t the skull is cloverleaf-shaped.
Achondrogen esis
T his is a lethal skeletal dysplasia w ith a b irth prevalence o f ab o u t 1 in 40 000. T h e
characteristic features are severe sh o rten in g o f the lim bs, n arro w thorax, short tru n k and
large head. In achondrogenesis type I, w h ich is autosom al recessive, there is p o o r
m ineralization o f b o th th e skull and vertebral bodies as w ell as rib fractures. In type II,
w h ic h is sporadic (new autosom al d o m in an t m utations), there is hypom ineralization
o f the vertebral bodies b u t norm al m ineralization o f th e skull, and there are n o rib
fractures.
Osteogenesis imperfecta
O steogenesis im perfecta is a genetically hetero g en eo u s g ro u p o f disorders presenting
w ith fragility o fb o n e s, b lue sclerae, loose jo in ts and g ro w th deficiency. T h e underlying
defect is a d o m in a n t negative m u tatio n affecting C O L 1A 1 o r C O L 1 A 2 alleles, w hich
enco d e the p ro A l(I) and proa2(I) chains o f type I collagen, a p ro te in o f p aram o u n t im
p o rtan ce for norm al skin and b o n e developm ent. T h e m u tations result in the p ro d u c
tio n o f abnorm al q u an tity (O I type I) o r quality (types II, III and IV) o f collagen.
T h e re are fo u r clinical subtypes. In type I, w h ich is an autosom al d o m in an t c o n d i

tio n w ith a b irth prevalence o f about 1 in 30 000, affected individuals have fragile
bones, b lue sclerae and progressive deafness, b u t life expectancy is norm al. Prenatal
diagnosis is available by D N A analysis. U ltrasonography in the second and th ird trim es
ters m ay d em onstrate fractures o f long bones.
In type II, w h ic h is a lethal disorder w ith a birth prevalence o f about 1 in 60 000,

m ost cases represent n ew d o m in an t m utations (recurrence is ab o u t 6%). T h e disorder is
91
characterized by early prenatal onset o f severe b o n e sh o rten in g and b o w in g due to

m ultiple fractures affecting all lo ng bones and ribs, and p o o r m ineralization o f the skull.
Type III is a progressively deform ing co n d itio n characterized by m ultiple fractures,

usually p resent at b irth , resulting in scoliosis and very short stature. B o th autosom al
d o m in a n t an d recessive m odes o f inheritance have been reported.
T ype IV is an autosom al d o m in a n t co n d itio n w ith variable expressivity. Severely

affected individuals m ay have deform ities o f the lo n g bones due to fractures. P renatal
diagnosis o f types III an d IV can be m ade by c h o rio n villous sam pling and D N A analy
sis, o r b y d em o n stratio n o f abnorm al collagen p ro d u c tio n in cu ltu red fibroblasts.
Hypophosphatasia
T h is lethal, autosom al recessive c o n d itio n , w ith a b irth prevalence o f ab o u t 1 in
100 000, is characterized b y severe sh o rten in g o f the lo n g bones, small th o rax ,
h y pom ineralization o f th e skull and lo n g bones. T h e re is absence o f liver and b o n e
isoenzym es o f alkaline phosphatase, and first-trim ester diagnosis is m ade by m easure
m en t o f alkaline phosphatase isoenzym es in ch o rio n villous samples. T h e diagnosis can
also be m ade b y D N A studies.
Achondroplasia
T his autosom al d o m in a n t syndrom e has a b irth prevalence o f ab o u t 1 in 26 000, b u t the
m ajority o f cases represent n ew m utations. T h e characteristic features o f heterozygous
achondroplasia include sh o rt lim bs, lu m b ar lordosis, short hands and fingers, m acro -
cephaly w ith frontal bossing and depressed nasal bridge. Intelligence and life expec
tancy are norm al. Prenatally, lim b sh o rten in g usually becom es apparent only after 22
w eeks o f gestation. In th e hom ozygous state, w h ich is a lethal c o n d itio n , short lim bs are
associated w ith a n arro w thorax. A chondroplasia is due to a specific m u ta tio n w ith in
th e fibroblast g ro w th factor re c ep to r type 3 gene (FGFR.3) and can n o w be diagnosed
b y D N A analysis o f fetal b lo o d o r am niotic fluid o b tain ed in cases o f suspicious
sonographic findings. In cases w h e re b o th parents have achondroplasia, there is a 25%
chance th at th e fetus is affected by the lethal type and the diagnosis can be m ade by
first-trim ester ch o rio n villous sampling.
Campomelic dysplasia
T his lethal, autosom al recessive syndrom e w ith a b irth prevalence o f 1 in 200 000 is
characterized b y sh o rten in g an d b o w in g o f the lo n g bones o f the legs, n arro w chest,
hypoplastic scapulae, and large calvarium w ith disproportionately small face. Som e o f
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SKELETON
the affected genetically m ale individuals show a female phen o ty p e. Patients usually die
in th e neonatal p e rio d fro m p u lm o n a ry hypoplasia.
Jarcho-Levin syndrome
T his is a h etero g en eo u s disorder, characterized by vertebral and rib abnorm alities (mis
alignm ent o f th e cervical spine and ribs). A n autosom al recessive type is characterized
by a co n stricted short th o rax and respiratory death in infancy. A n o th e r autosom al reces
sive and an autosom al d o m in a n t type are associated w ith a short stature and are com pat
ible w ith survival to adult life b u t w ith som e degree o f physical disability.
Asphyxiating thoracic dysplasia (Jeune syndrome)

T his is an autosom al recessive c o n d itio n w ith a birth prevalence o f ab o u t 1 in 70 000.
T h e characteristic features are n arro w chest and rhizom elic lim b shortening. T h e re is a
variable p h en o ty p ic expression and, consequently, the prognosis varies fro m neonatal
death, due to p u lm o n ary hypoplasia, to n o rm al survival. L im b sh o rtening is m ild to
m oderate and this m ay n o t b eco m e apparent u n til after 24 w eeks o f gestation.
Chondroectodermal dysplasia (E llis-V an Creveld syndrome)

T his rare, autosom al recessive co n d itio n is characterized by acrom elic and m esom elic
shortness o f lim bs, postaxial polydactyly, small chest, ectoderm al dysplasia, and co n g en
ital heart defects in m o re th a n 50% o f cases.
Short limb polydactyly syndromes

T h is g roup o f lethal disorders is characterized by short lim bs, n arro w th o rax and
postaxial polydactyly. A ssociated anom alies are frequently fo u n d , in clu d in g congenital
h eart disease, polycystic kidneys, and intestinal atresia. F o u r different types have been
recognized. T y p e I (S a ld in o -N o o n an ) has n a rro w m etaphyses; type II (M ajewski) has
cleft lip and palate an d d isproportionally sh o rten ed tibiae; type III (N aum off) has w ide
m etaphyses w ith spurs; type IV (B eem er—Langer) is characterized by m edian cleft lip,
small chest w ith extrem ely sh o rt ribs, p ro tu b e ra n t a b d o m en w ith um bilical hernia and
am biguous genitalia in som e 46,X Y individuals.
Diastrophic dysplasia
T his autosom al recessive c o n d itio n is characterized by severe sh o rten in g and b o w in g o f
all lo n g bones, talipes eq u in o varus, han d deform ities w ith abducted p o sitio n o f the
thum bs (‘h itc h h ik e r th u m b ’), m ultiple jo in t flexion contractures and scoliosis. T h e re is
a w ide spectrum in p h en o ty p ic expression and som e cases m ay n o t be diagnosable in
utero. T his disease is n o t lethal and n e u ro d ev e lo p m en t is norm al.
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LIMB DEFICIENCY O R CO N G EN ITA L A M PU TA TIO N S

A bsence o f an extrem ity o r a segm ent o f an extrem ity is referred to as ‘lim b deficiency’
o r ‘congenital a m p u ta tio n ’. T h e prevalence o flim b red u ctio n deform ities is about 1 p er
20 000 births. In ab o u t 50% o f cases, there are sim ple transverse red u ctio n deficiencies
o f o n e forearm o r h and w ith o u t associated anom alies. In the o th e r 50% o f cases, there
are m ultiple re d u c tio n deficiencies and, in 25% o f these, there are additional anom alies
o f the intern al organs o r craniofacial structures. In general, lim b deficiency o f the up p er
extrem ity is an isolated anom aly, w hereas congenital am putation o f the leg o r bilateral
am putations o r reductions o f all limbs are usually part o f a genetic syndrom e.
Isolated am p u tatio n o f an ex trem ity can be due to am niotic ban d syndrom e, e x p o

sure to a terato g en o r a vascular accident. T h e re is an association b e tw ee n ch o rio n
villous sam pling before 10 w eeks o f gestation and transverse lim b defects. Syndrom es
associated w ith lim b deficiencies include the aglossia—adactylia syndrom e (transverse
am putations o f th e lim bs ranging from absent digits to severe deficiencies o f all four
extrem ities, m icrognathia, and vestigial to n g u e o r ankylosis o f the to n g u e to the hard
palate, th e flo o r o f th e m o u th o r the lips), and the M oebius sequence (facial anom ahes
attrib u ted to paralysis o f the 6th and 7 th cranial nerves, leading to m icrognathia and
ptosis w ith u p p e r lim b defects, ranging from transverse am putations to absent digits).
B o th syndrom es are sporadic.
L im b re d u c tio n defects associated w ith o th e r anom alies include the C H IL D syn

d ro m e (congenital hem idysplasia w ith ichthyosiform ery th ro d erm a and lim b defects).
T his is characterized by strict dem arcation o f th e skin lesions to one side o f the m id-line
and lim b deficiencies, w h ich are unilateral, varying from hypoplasia o f phalanges to
com plete absence o f an extrem ity. T h e co n d itio n is also associated w ith heart defects
and unilateral h y dronephrosis o r renal agenesis.
In ph o co m elia, th e extrem ities resem ble those o f a seal. Typically, the hands and feet
are present (these m ay be norm al o r abnorm al), b u t the in terv en in g arms and legs are
absent. P h o co m elia can also be caused by exposure to thalidom ide, b u t this is only o f
historical interest. T h re e syndrom es m ust be considered in the differential diagnosis o f
phocom elia: R o b e rts syndrom e (autosom al recessive disorder characterized by the
association o fte tra p h o c o m elia and facial clefting defects o r hypoplastic nasal alae), som e
varieties o f th ro m b o c y to p e n ia w ith absent radius (T A R syndrom e) and G rebe syn
d ro m e (autosom al recessive co n dition, described in the in b re d Indian tribes o f Brazil,
characterized b y m ark ed hypom elia o f u p p er and lo w e r lim bs, increasing in severity
from p roxim al to distal segm ents —in contrast to R o b e rts syndrom e, the lo w er lim bs are
m o re affected than th e u p p e r extrem ities).
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SK EL E TO N
C o n g en ital short fem u r has b een classified in to five groups: type I, simple hypoplasia
o f th e fem ur; type IX, sh o rt fem u r w ith angulated shaft; type III, short fem u r w ith coxa
vara (the m ost co m m o n ); type IV, absent o r defective proxim al fem ur; and type V,
absent o r ru d im en tary fem ur. O n e o r b o th fem urs can be affected b u t the right fem ur is
m ore freq u en tly involved. Fem oral hypoplasia—unusual facies syndrom e, w h ich is
sporadic, consists o f bilateral fem oral hypoplasia and facial defects, in clu d in g short nose
w ith b ro ad tip, lo n g p h iltra m , m icrognathia and cleft palate.
I f th e defect is unilateral, it m ay corresp o n d to the fem ur—fibula—ulna or

fem ur—tibia—radius com plex. T hese tw o syndrom es have different im plications for
genetic counselling; th e fo rm er is non-farrulial, w hile the second has a strong genetic
co m p o n en t.
SPLIT H A N D A N D F O O T SY N D R O M E
T h e term ‘split h an d an d fo o t’ syndrom e refers to a group o f disorders characterized by
splitting o f th e h an d an d foot in to tw o parts; o th e r term s include lobster-claw deform ity
and ectrodactyly. T h e con d itions are classified in to typical and atypical varieties. T h e
typical variety (found in 1 p e r 90 000 births and usually in h erited w ith an autosom al
d o m in an t pattern) consists o f absence o f b o th the finger and the m etacarpal b o ne,
resulting in a deep V -shaped central defect that clearly divides the han d in to an ulnar
and a radial part. T h e atypical variety (found in 1 per 150 000 births) is characterized by
a m u ch w id e r cleft fo rm ed b y a defect o f the m etacarpals and the m iddle fingers; the
cleft is U -sh ap ed and w id e, w ith only the th u m b and smalJ finger rem aining.
Split h and an d fo o t deform ities can o cc u r as isolated anom alies, b u t m ore co m m o n ly

th ey are part o f a m o re co m p lex syndrom e. E ctrodactyly—ectoderm al dysplasia—cleft
lip /p alate syndrom e (E E C syndrom e), w h ic h is autosom al d o m inant, involves the four
extrem ities w ith m o re severe deform ities o f the hands; the spectrum o f ectoderm al
defects is w id e, in clu d in g d ry skin, sparse hair, dental defects and defects o f the tear duct.
O th e r syndrom es inclu d e split fo o t and triphalangeal th u m b , split fo o t and han d and
central polydactyly, K arsch—N eu g eb au er syndrom e (split h a n d /fo o t w ith congenital
nystagm us), acrorenal syndrom e and m andibulofacial dysostosis (Fontaine syndrom e).
C LU BH A N D S
C lu b h an d deform ities are classified in to tw o m ain categories: radial and ulnar. R adial
clu b h an d includes a w id e sp ectrum o f disorders th at encom pass absent th u m b , th u m b
hypoplasia, th in first m etacarpal and absent radius. U ln ar clubhand, w h ich is less
c o m m o n , ranges from m ild deviations o f the han d on the ulnar side o f the forearm to
95
DIA G N O SIS O F FETAL A B N O R M A LITIES: T H E 1 8 -2 3 -W EEK SCAN
com plete absence o f th e ulna. W h ile radial clubhand is frequently syndrom atic, ulnar
clubhand is usually an isolated anom aly.
C lu b h an d deform ities are often fo u n d in association w ith chrom osom al abnorm ali
ties (such as trisom y 18), hem atological abnorm alities (such as F an co n i’s pancytopenia,
T A R syndrom e and Aase syndrom e), o r genetic syndrom es w ith cardiac defects (such
as H o lt-O ra m syn d ro m e, o r th e Lewis u p p er lim b—cardiovascular syndrom e). R adial
clubhand is also associated w ith congenital scoliosis. T h e th ree syndrom es th at should
be considered part o f th e differential diagnosis include the V A T E R association (verte
bral segm entation, v en tricu lar septal defect, anal atresia, tracheoesophageal fistula,
radial an d renal defects, and single um bilical artery), G old en h ar syndrom e and the
K lippel—Feil syndrom e.
PO LY DAC TYLY
Polydactyly is th e presence o f an additional digit, w h ich m ay range fro m a fleshy nu b b in
to a com plete digit w ith co n tro lled flexion and extension. Postaxial polydactyly (the
m ost c o m m o n form ) occurs o n the ulnar side o f the hand and fibular side o f the foot.
Preaxial polydactyly is p resent on the radial side o f the han d and the tibial side o f the
foot. T h e m ajority o f co n d itio n s are isolated w ith an autosom al d o m in an t m o d e o f in
heritance. Som e o f th e m are p art o f a syndrom e, usually an autosom al recessive one.
Preaxial polydactyly, especially triphalangeal th u m b , is m ost likely to be part o f a
m ultisystem syndrom e. C en tral polydactyly, w h ic h consists o f an extra digit (usually
hidden b e tw e e n the lo n g and the ring finger), is often bilateral and is associated
w ith o th e r h an d and fo o t m alform ations; it is in h erite d w ith an autosom al m o d e o f
inheritance.
FETAL AKINESIA D E F O R M A T IO N SEQUENCE (FADS)

T his is a h etero g en eo u s g ro u p o f conditions w ith a b irth prevalence o f ab o u t 1 in 3000.
N eurological, m uscular, co n n ective tissue, and skeletal abnorm alities result in m ultiple
jo in t contractures, in clu d in g bilateral talipes and fixed flexion o r extension deform ities
o f the hips, knees, elbow s and wrists. T his sequence includes congenital lethal
arthrogryposis, m ultiple p tery g iu m and P e n a -S h o k e ir syndrom es. T h e deform ities are
usually sym m etric and, in m ost cases, all fo u r lim bs are involved. T h e severity o f the
deform ities increases distally in the involved lim b, w ith the hands and feet typically
bein g th e m ost severely affected. T h e co n d itio n is co m m o n ly associated w ith poly
hydram nios (usually after 25 w eeks), n arro w chest, m icrognathia and nuchal edem a (or
increased nuchal translucency at 10—14 w eeks).
96
Normal limbs at 20 weeks
97
S KEL E TON
Figure 17 Limb defects
Normal thorax
Severe thoracic hypoplasia
Figure 18 T h o racic defects
98
10
Features o f chromosomal defects
Kypros Nicolaides and Rosalinde Snijders
PH E N O T Y PIC EX PR E SSIO N
T h e co m m o n est ch ro m o so m al defects are trisom ies 21, 18 o r 13, T u rn e r syndrom e
(45,X ), 47,X X X , 4 7 ,X X Y , 4 7 ,X Y Y and triploidy. In the first trim ester, a c o m m o n
feature o f m any ch ro m o so m al defects is increased nuchal translucency thickness.
In later pregnancy, each chrom osom al defect has its o w n syndrom al p attern o f
abnorm alities.
Trisom y 21
T riso m y 21 is associated w ith a ten d en cy tow ards brachycephaly, m ild v en tric u lo
m egaly, flattening o f the face, nuchal edem a, atrioventricular septal defects, duodenal
atresia and echogenic bo w el, m ild hydronephrosis, sh o rtening o f th e lim bs, sandal gap
and clinodactyly o r m id -p h alan x hypoplasia o f the fifth finger.
Trisom y 18
T riso m y 18 is associated w ith straw berry-shaped head, ch o ro id plexus cysts, absent co r
pus callosum , D a n d y -W a lk e r com plex, facial cleft, m icrognathia, nuchal edem a, heart
defects, diaphragm atic hernia, esophageal atresia, exom phalos, renal defects, m y elo
m eningocele, g ro w th retard ation and sh o rten in g o f the lim bs, radial aplasia, over
lapping fingers and talipes o r ro ck er b o tto m feet.
Trisom y 13
In trisom y 13, c o m m o n defects include holoprosencephaly and associated facial ab n o r
m alities, m icrocephaly, cardiac and renal abnorm alities (often enlarged and echogenic
kidneys), exom phalos and postaxial polydactyly.
99
Triploidy
T rip lo id y , w h e re th e extra set o f chrom osom es is paternally derived, is associated w ith a
m olar placenta and th e p regnancy rarely persists b e y o n d 20 w eeks. W h e n there is a
double m aternal ch ro m o so m e c o n trib u tio n , the pregnancy m ay persist in to the third
trim ester. T h e placenta is o f n orm al consistency and the fetus dem onstrates severe
asym m etrical g ro w th retardation. C o m m o n ly , there is m ild ventriculom egaly, m ic ro
gnathia, cardiac abnorm alities, m y elo m eningocoele, syndactyly, and ‘h itc h -h ik e r’ toe
deform ity.
Turner syndrome
T h e re are tw o types o f this syndrom e, th e lethal and n o n -le th al types. T h e rate o f
in trau terin e lethality b e tw e e n 12 and 40 w eeks is ab o u t 75%. T h e lethal type o f T u rn e r
syndrom e presents w ith large n u chal cystic hygrom ata, generalized edem a, m ild pleural
effusions and ascites, and cardiac abnorm alities. T h e n o n -leth al type usually does n o t
d em onstrate any ultrasonographic abnorm alities.
Sex chromosome abnormalities

T h e m ain sex ch ro m o so m e abnorm alities, o th e r than T u rn e r syndrom e, are 47,X X X ,
4 7 ,X X Y and 4 7,X Y Y . T hese are n o t associated w ith an increased prevalence o f
sonographically detectable defects.
Types o f abnormalities
T able 1 show s th e c o m m o n chrom osom al abnorm alities in the presence o f various
sonographically d etected defects.
RISK FO R CH RO M O SO M AL DEFECTS
Number o f defects
U ltraso u n d studies have d em o n strated that m ajor chrom osom al defects are o ften asso
ciated w ith m ultiple fetal abnorm alities. T h e overall risk fo r chrom osom al defects
increases w ith the total n u m b e r o f abnorm alities th at are identified. It is therefore
re c o m m e n d e d that, w h e n an a b n o rm ality /m ark er is d etected at ro u tin e ultrasound
exam ination, a th o ro u g h ch eck is m ade fo r the o th e r features o f th e chrom osom al
defect(s) k n o w n to be associated w ith that m arker; should additional abnorm alities be
identified, th e risk is dram atically increased (Table 2, see p. 102).
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FEA T U R E S O F C H R O M O S O M A L DEFECTS
Table 1 Common chromosomal abnormalities in fetuses with sonographic defects
Trisomy 2 1 Trisomy 18 Trisomy 13 Triploidy Turner
Skull/brain
Strawberry-shaped head - + - - -
Brachycephaly + + + - +
Microcephaly - - + - +
Ventriculomegaly + + - + -
Holoprosencephaly - - + - -
Choroid plexus cysts + + - - -
Absent corpus callosum - + - - -
Posterior fossa cyst + + + - -
Enlarged cisterna magna + + + - -
F ace/neck
Facial cleft - + + - -
Micrognathia - + - + -
Nuchal edema + + + - -
Cystic hygromata - - - - +
Chest
Diaphragmatic hernia - + + - -
Cardiac abnormality + + + + +
Abdom en
Exomphalos - + + - -
Duodenal atresia + - - - -
Collapsed stomach + + - - -
Mild hydronephrosis + + + - +
Other renal abnormalities + + + + -
Other
Hydrops + - - - +
Small for gestational age - + - + +
Relatively short femur + + - + +
Clinodactyly + - - - -
Overlapping fingers - + - - -
Polydactyly - - + - -
Syndactyly - - - + -
Talipes - + + + -
101
Table 2 Incidence of chromosomal defects in relation to number ofsonographically detected abnormal-

ities (Nicolaides et al., Lancet 1992;340:704-7)
Abnormalities n Chromosom al defects
1128 2%
490 11%
220 32%
115 52%
53 66%
40 63%
16 69%
>8 24 92%
M ajor defects
I f the 18—2 3 -w eek scan dem onstrates m ajor defects, it is advisable to offer fetal
k aryotyping even if these defects are apparendy isolated. T h e prevalence o f these
defects is lo w and therefo re the cost im plications are small. I f the defects are e ith e r lethal
o r they are associated w ith severe handicap, fetal karyotyping constitutes o n e o f a series
o f investigations to d eterm in e the possible cause and therefore the risk o f recurrence.
E xam ples o f these defects inclu d e hydrocephalus, holoprosencephaly, m ulticystic renal
dysplasia and severe hydrops. In the case o f isolated neural tube defects, th ere is c o n tro
versy as to w h e th e r the risk for chrom osom al defects is increased. Similarly, for skeletal
dysplasias w h e re th e likely diagnosis is obvious by ultrasonography, it w o u ld probably
be unnecessary to p erfo rm karyotyping. I f the defect is potentially correctable by
in trau terin e o r postnatal surgery, it m ay be logical to exclude an und erly in g c h ro m o
som al abnorm ality, especially because for m any o f these conditions the usual abnorm al
ity is trisom y 18 o r 13. Exam ples include facial cleft, diaphragm atic hernia, esophageal
atresia, exom phalos and m any o f the cardiac defects. In the case o f isolated gastroschisis
o r small b o w el o b stru ctio n , th ere is no evidence o f increased risk o f trisom ies.
M inor defects or markers

F o r apparently isolated abnorm alities, th ere are large differences in the re p o rte d in ci
dence o f associated chro m o so m al defects. It is therefore uncertain w h e th e r, in such
cases, k aryotyping should be u n d ertak en , especially for those abnorm alities th at have a
h ig h prevalence in the general p o p u la tio n and for w h ic h the prognosis in the absence o f
a chrom osom al defect is good. Since the incidence o f chrom osom al defects is associated
w ith m aternal age, it is possible that the w ide range o f results rep o rte d in the various
studies is th e m ere conseq u en ce o f differences in the m aternal age distribution o f the
p opulations exam ined. In addition, since chrom osom al abnorm alities are associated
102
FEA T U R E S O F C H R O M O S O M A L DEFECTS
w ith a high rate o f in trau terin e death, differences m ay arise fro m the fact th at studies
w ere u n d ertak en at different stages o f pregnancy. F o r exam ple, to determ in e w h e th e r
apparently isolated c h o ro id plexus cysts at 20 w eeks o f gestation are associated w ith an
increased risk for trisom y 18, it is essential to k n o w the incid en ce o f trisom y 18 at 20
w eeks, based o n th e m aternal age distribution o f the p o p u la tio n that is exam ined.
T h erefo re, w e propose that, in the calculation o f risks for chrom osom al defects, it is
necessary to take in to acco u n t ultrasound findings as w ell as the m aternal age and the
gestational age at the tim e o f th e scan (see A ppendix I, p. 125).
Association w ith maternal age and gestation

T h e risk for trisom ies increases w ith m aternal age and decreases w ith gestation; the rate
o f in trau terin e lethality b e tw e en 12 w eeks and 40 w eeks is ab o u t 30% for trisom y 21,
and 80% for trisom ies 18 and 13 (A ppendix I). T u rn e r syndrom e is usually due to loss o f
the paternal X ch ro m o so m e and, consequently, the frequency o f co n cep tio n o f 45,X
em bryos, unlike that o f trisom ies, is unrelated to m aternal age. T h e prevalence is about
1 per 1500 at 12 w eeks, 1 p e r 3000 at 20 w eeks and 1 p e r 4000 at 40 w eeks. F or the
o th e r sex ch ro m o so m e abnorm alities (47,X X X , 4 7 ,X X Y and 47,X Y Y ), there is no
significant change w ith m aternal age and, since the rate o f in trau te rin e lethality is n o t
hig h er than in chrom osom ally norm al fetuses, the overall prevalence (about 1 p er 500)
does n o t decrease w ith gestation. Polyploidy affects about 2% o f recognized co n cep
tions b u t it is highly lethal and it is very rarely observed in live births; the prevalence at
12 and 20 w eeks is ab o u t 1 p e r 2000 and 1 per 250 000, respectively.
Type o f defect
I f there are m in o r defects, th e risk for trisom y 21 is calculated by m ultiplying the back
g ro u n d (m aternal age- and g estation-related risk) by a factor d e p en d in g o n the specific
defect. F or the follow ing conditions, there are sufficient data in the literature to esti
m ate the risk factors.
Nuchal edema or fo ld more than 6 mm T his is the seco n d -trim ester form o f nuchal
translucency. It is fo u n d in ab o u t 0.5% o f fetuses and it m ay be o f no pathological
significance. H o w e v e r, it is som etim es associated w ith ch rom osom al defects, cardiac
anom alies, in fectio n o r genetic syndrom es. F o r isolated nuchal edem a, the risk for
trisom y 21 m ay be ten -tim es the back g ro u n d risk.
Hyperechogenic bowel T his is fo u n d in about 0.5% o f fetuses and is usually o f no p ath o

logical significance. T h e c o m m o n est cause is in tra-am n io tic bleeding, b u t occasionally
it m ay be a m arker o f cystic fibrosis o r chrom osom al defects. F or isolated hyper
echogenic b o w el, th e risk for trisom y 21 m ay be seven-tim es the b a ck g ro u n d risk.
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D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 18 -23-W E E K SCAN
Short fe m u r I f th e fem u r is b elo w th e 5th centile and all o th e r m easurem ents are
norm al, th e baby is likely to be norm al b u t rath er short. R arely , this is a sign o f dw arf
ism. O ccasionally, it m ay be a m ark er o f chrom osom al defects. O n the basis o f existing
studies, sh o rt fem u r is fo u n d fo u r-tim es as co m m o n ly in trisom y 21 fetuses co m pared to
norm al fetuses. H o w e v e r, th ere is som e evidence th at isolated short fem ur m ay n o t be
m o re c o m m o n in trisom ic than norm al fetuses.
Echogenic foci in the heart T h ese are fo u n d in ab o u t 4% o f pregnancies and they are
usually o f n o pathological significance. H o w e v e r, th ey are som etim es associated w ith
cardiac defects and chro m o so m al abnorm alities. F or isolated hyperech o g en ic foci, the
risk for trisom y 21 m ay be fou r-tim es the b a ck g ro u n d risk.
Choroid plexus cysts T h ese are fo u n d in about 1—2% o f pregnancies and th e y are usually
o f n o pathological significance. W h e n o th e r defects are present, there is a high risk o f
chrom osom al defects, usually trisom y 18 b u t occasionally trisom y 21. F or isolated
ch o ro id plexus cysts, th e risk for trisom y 18 and trisom y 21 is 1.5-tim es th e back g ro u n d
risk.
M ild hydronephrosis T his is fo u n d in ab o u t 1—2% o f pregnancies and is usually o f no

pathological significance. W h e n o th e r abnorm alities are present, th ere is a high risk o f
chrom osom al defects, usually trisom y 21. F or isolated m ild hydronephrosis, th e risk for
trisom y 21 is 1.5-tim es the b a ck g ro u n d risk.
104
11
Fetal tumors
Israel M e izn er
IN T R O D U C T IO N
Fetal tum ors are rare, b u t th ey have im p o rta n t im plications for th e health o f b o th the
fetus and the m o th e r. T h e natural history and prognosis o f m ost fetal tum ors are w ell
k n o w n . O n c e a fetal tu m o r has b een detected, close surveillance by a m ultidisciplinary
team o f doctors is m and ato ry , w ith anticipation and early reco g n itio n o f problem s d u r
ing pregnancy, labor and im m ediate postnatal life. W h e n the sonographic diagnosis is
uncertain, fetal tissue biopsy m ay be necessary to obtain a histological diagnosis. In rare
cases, in trau terin e tre a tm e n t m ay be possible. Som e fetal tum ors m ay be m alignant and
co u ld m etastasize to o th e r fetal organs and the placenta; m aternal metastases in such
cases are u n k n o w n . In contrast, o n rare occasions, m aternal m alignancies (m elanom a,
leukem ia and breast cancer) can metastasize to the placenta; in ab o u t h alf o f the cases
w ith placental metastases, m ostly w ith m alignant m elanom a, the tu m o r can m etastasize
to fetal viscera.
Etiology and mechanisms o f carcinogenesis

D ev elo p m en tal errors d u rin g em bryonic and fetal m atu ratio n m ay result in em bryonic
tum ors. O n e hypothesis is th at m o re cells are pro d u c e d th an are req u ired for the form a
tio n o f an organ o r tissue an d the origins o f em bryonic tum ors rest in developm ental
errors in these surplus em b ryonic rudim ents. E m b ry o n ic tum ors developing after
infancy are explained b y th e persistence o f cell rests o r developm ental vestiges. D ev el-
opm entally anom alous tissue (such as ham artom as and dysgenic gonads) is a source o f
neoplasm s in older child ren and adults. W h e n any o f this developm entally abnorm al
tissue is p resent at b irth , it is inferred th at th e cells failed to m ature, m igrate o r differenti
ate pro p erly d u rin g in trau terin e life.
N eoplastic transform ation o f cells in tissue culture and in vivo carcinogenesis are
dynam ic, m ultistep and co m p lex processes that can be separated artificially in to three
phases: in itiatio n , p ro m o tio n and progression. T hese phases m ay be applied to the
105
natural history o f virtually all h u m a n tum ors, including em bryonic ones. Initiation is the
result o f exposure o f cells o r tissues to an appropriate dose o f a carcinogen; an initiated
cell is p erm an en tly dam aged and has a m alignant potential. T h e initiated cells can persist
for m o n th s o r years before b e c o m in g m alignant. D u rin g the promotion phase, initiated
cells clonally expand. P ro m o tio n m ay be m od u lated o r reversed by a variety o f
e n v iro n m en tal conditions. In the last phase, progression, the transform ed cells develop
in to a tu m o r, ultim ately w ith metastasis. E m b ry o n ic tum ors can, therefore, be regarded
as defects in th e integrated c o n tro l o f cell differentiation and proliferation. A genetic
m o d el o f carcinogenesis has also been in tro d u c e d in an attem p t to clarify the
pathogenesis and behavioral peculiarities o f certain em bryonic tum ors. A ccording to
this hypothesis, em bryonal neoplasm s arise as a result o f tw o m utational events in the
genom e. T h e first m u tatio n is prezygotic in familial cases and postzygotic in n o n -
familial; th e second m u ta tio n is always postzygotic.
Benignity o f fetal and infantile neoplasms

Som e n eonatal and infantile tu m ors have a b e n ig n clinical b eh avior despite histological
evidence o f m alignancy. Exam ples include congenital neuroblastom as and h e p ato
blastom as in the first y ear o f life, and congenital and infantile fibrom atosis, and
sacrococcygeal teratom as in th e first few m onths o f life. T h e factors responsible for this
‘o n co g en ic p erio d o f grace’, w h ich starts in utero and extends th ro u g h the first few
m o n th s o f ex trau terin e life, are uncertain.
Association o f neoplasia and congenital malformations

T h e co n cep t that teratogenesis and oncogenesis have shared m echanism s is w ell d o c u
m en ted b y n u m ero u s exam ples. P robably, there is sim ultaneous o r sequential cellular
and tissue reaction to specific injurious agents. T h e degree o f cytodifferentiation, the
m etabolic o r im m u n o lo g ical state o f the em bryo o r fetus, and th e length o f tim e o f
exposure to the agent w ill d eterm in e w h e th e r the effect is teratogenic, o n co genic,
b o th , o r neith er. M any biological, chem ical and physical agents k n o w n to be
teratogenic to th e fetus o r em bryo are carcinogenic postnatally. A lternatively, a
teratogenic ev en t d u rin g in trau terin e life m ay predispose the fetus to an oncogenic
ev en t later in life. T his w o u ld explain neoplastic transform ation occu rrin g in ham ar
tom as, developm ental vestiges, heterotopias and dysgenetic tissues. It is postulated that
th e anom alous tissues h arb o r latent oncogenes w h ich , u n d er certain en v iro n m en tal
cond itio n s, are activated, resulting in m alignant transform ation o f a tum or.
Classification
A form al classification o f fetal tum ors does n o t exist. A part from distinguishing solid
fro m cystic lesions, p robably th e best classification should be by location. T h e m ain
106
FETAL T U M O R S
co m p artm en ts o f fetal tum ors are the head and brain, face and neck, thorax (including
th e heart), ab d o m en and re tro p erito n eu m , extrem ities, genitalia, sacrococcygeal
region, and skin.
Prenatal diagnosis
T h e approach for prenatal diagnosis o f fetal tum ors should be based o n th ree sets o f
ultraso u n d signs: general signs, organ-specific signs and tum or-specific signs. T h e
general sonographic features, that should raise the suspicion o f an und erly in g fetal tu m o r,
include:
(1) A bsence o r disru p tio n o f co n to u r, shape, location, sonographic tex tu re o r size, o f a

norm al anatom ic structure;
(2) Presence o f an abnorm al structure o r abnorm al biom etry;
(3) A b n o rm ality in fetal m o v em ent;
(4) Polyhydram nios; and
(5) H y d ro p s fetalis.
P olyhydram nios is particularly im p o rtan t, because alm ost 50% o f fetal tum ors are
accom panied by this finding. T h e und erly in g m echanism s include interference w ith
sw allow ing (such as th y ro id g o iter o r m yoblastom a), m echanical ob stru ctio n (such as
gastrointestinal tum ors), excessive p ro d u ctio n o f am niotic fluid (such as sacrococcygeal
teratom a), and decreased resorption by lu n g tissue in lu n g pathology. Intracranial
tum ors are also c o m m o n ly associated w ith polyhydram nios and the m echanism may be
n eu ro g en ic lack o f sw allow ing o r inappropriate polyuria.
Tumor-specific signs include pathological changes w ith in the tu m o r mass (calcifi

cations, liquefaction, organ edem a, internal bleeding, neovascularization and rapid
changes in size and texture). Organ-specific signs are rare, b u t in som e cases th ey are
highly suggestive o f th e c o n d itio n (such as cardiom egaly w ith a huge solid o r cystic mass
o ccu p y in g the entire heart, suggesting intrapericardial terato m a).
In som e cases, n o rm al and abnorm al sonographic findings m ay m im ic fetal tum ors.

Exam ples m ay vary from severe cases o f bladder exstrophy (w here the p ro tru d in g
bladder mass appears as a solid tu m o r-lik e stru ctu re), to rare cases o f fetal scrotal inguinal
hernia (w here b o w e l loops o ccupy the scrotum , appearing as huge masses).
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D IA G N O SIS O F FETAL A B N O RM A LITIES: T H E 18-23-W E E K SCA N
Prognosis
A part from intracranial tum ors (w here the prognosis is generally p o o r), the prognosis
for tu m o rs in o th e r locations is variable and depends on the size o f the tu m o r (w ith
resultant com pression o f adjacent organs), degree o f vascularization (w ith the risk o f
causing h eart failure and hydrops), and associated polyhydram nios (w ith the risk o f
p re te rm delivery).
IN TR A C R A N IA L TUM O RS
Intracranial tu m o rs include teratom as, ep iderm oid, d erm oid, germ inom a, m e d u llo -
blastom a, m eningeal sarcom a, lipom a o f the corpus callosum , oligodendrogliom a,
gangliocytom a, and glioblastom a, ch o ro id plexus papillom a, tuberous sclerosis
(B ourneville’s disease), neurofibrom atosis (V on R eck lin g h au sen ’s disease), and
system ic angiom atosis o f the central nervous system and eye (V on H ippel—L in d au ’s
disease).
Prevalence
B rain tu m o rs are exceedingly rare in children, and only ab o u t 5% arise d u rin g fetal life;
terato m a is th e m ost frequently reported.
Etiology
E m b ry o n ic tu m o rs are th o u g h t to derive fro m em bryologically displaced cells. B rain
tum ors have b e e n p ro d u ced in animals by the use o f chem ical and viral teratogens. T h e
relevance o f these experim ents to h u m an brain neoplasm s is unclear.
Diagnosis
A brain tu m o r should be suspected in the presence o f m ass-occupying lesions (cystic o r
solid areas), an d a change in shape o r size o f the norm al anatom ic structures (such as shift
in th e m id -lin e ). C ystic tum ors and teratom as are usually characterized by com plete loss
o f th e norm al intracranial architecture. In som e cases, the lesion appears as a lo w
ech o g en ic structure, and it m ay be difficult to recognize. H ydrocephalus is frequently
associated w ith brain tum ors and m ay be the presenting sign. T h e ultrasound appear
ances o f all intracranial tum ors are sim ilar and, therefore, precise histological diagnosis
from a scan is alm ost im possible. Possible exceptions are lipom as (that have a typical
h y p erech o g en ic h o m o g en eo u s appearance) and c h o ro id plexus papillom as (that appear
as an o v e rg ro w th o f the ch o ro id plexus). Identification o f brain neoplasm associated
w ith tu b ero u s sclerosis, neurofibrom atosis, and systemic angiom atosis o f the central
108
FETAL T U M O R S
nervous system and eye can be attem p ted in patients at high risk; in m ost cases, h o w
ever, antenatal sonography is negative, at least in the second trim ester.
Prognosis
Prognosis depends o n a n u m b e r o f factors, in clu d in g the histological type and the size
and location o f th e lesion. C o n g en ital intracranial teratom as are usually fatal. T h e
lim ited experience w ith th e o th e r neoplasm s in prenatal diagnosis precludes the fo rm u
lation o f prognostic considerations.
TUM O RS OF TH E FACE A N D NECK
Epignathus
T his is a very rare terato m a arising from the oral cavity o r pharynx. M o st cases o f
epignathus arise fro m th e sp h en o id bone. Som e arise from the hard and soft palate, the
pharynx, the to n g u e an d ja w . F ro m th eir sites o f origin, the tum ors g ro w in to th e oral
o r nasal cavity o r intracranially. T h e tum ors, w h ic h are usually b enign, consist o f tissues
derived from any o f th e th ree germ inal layers; m ost o f th em co n tain adipose tissue,
cartilage, b o n e, and nervous tissue. P renatal diagnosis is suggested by the dem o n stratio n
o f a solid tu m o r arising fro m the oral cavity; calcifications and cystic co m p o n en ts m ay
also be present. D ifferential diagnosis includes neck teratom as, encephaloceles, and
o th e r tum ors o f th e facial structures. Polyhydram nios (due to pharyngeal com pression)
is usually present. A careful exam ination o f the brain is im p o rta n t because the tu m o r
m ay gro w intracranially. T h e o u tlo o k depends on the size o f the lesion and the involve
m e n t o f vital structures. Lesions detected antenatally have b e en very large. Poly
hydram nios has b een associated w ith p o o r prognosis. T h e m ajor cause o f neonatal
death is asphyxia d u e to airw ay o bstruction. Surgical resection w ith a norm al post
operative course is possible.
M yoblastoma
T his is a very rare b en ig n tu m o r, w h ich usually arises from the oral cavity. T h e tu m o r
occurs in females exclusively and it m ay be the consequence o f excessive p ro d u ctio n o f
estrogens by the fetal ovaries u n d e r h um an chorionic g o n ad o tro p in stim ulation. T h e
ultrasound features are those o f a large solid mass p ro tru d in g fro m the fetal m o u th .
Vascular co n n ectio n s b e tw e e n th e tu m o r and the floor o f the oral cavity m ay be
d em onstrated using c o lo r D o p p le r ultrasound. Polyhydram nios (due to pharyngeal
com pression) is co m m o n .
109
Cervical teratoma
T his is a rare tu m o r. U ltraso u nd features include a unilateral and w ell-dem arcated
partly solid and cystic, o r m ultiloculated mass, calcifications (in ab o u t 50% o f cases), and
polyhydram nios (in ab o u t 30% o f cases due to esophageal obstruction). T h e prognosis is
very p o o r and th e in trau terin e o r neonatal m ortality rate (due to airw ay obstruction) is
abo u t 80%. Survival after surgery is m o re than 80% b u t, since these tu m o rs te n d to
be large, extensive n eck dissection and m ultiple additional procedures are necessary
to achieve co m p lete resection o f the tu m o r w ith acceptable functional and cosm etic
results.
Goiter
Fetal g o iter (enlargem ent o f the th y ro id gland) can be associated w ith hyperthyroidism
(the result o f io d in e excess o r deficiency, in trau terin e exposure to an tith y ro id drugs o r
congenital m etabolic disorders o f th y ro id synthesis), h y p o thyroidism o r an eu th y ro id
state. U ltraso u n d diagnosis is based o n the dem o n stratio n o f a solid, anteriorly located
sym m etric mass, w h ich m ay result in h y p erextension o f the fetal head. P olyhydram nios
is c o m m o n due to m echanical o b struction o f the esophagus. T h e prognosis depends on
the basic cause o f the goiter. M o st cases are in w o m e n w ith a history o f th y ro id disease.
Fetal b lo o d sam pling can aid in d eterm in in g fetal th y ro id status, especially in w o m e n
suffering fro m G rav e’s disease w h ere a transplacental transfer o f drugs o r th y ro id -
stim ulating antibodies m ay result in fetal goiter. M aternal therapy usually corrects fetal
hyperthyroidism . D irect fetal therapy in cases o f fetal hypothyroidism can be u n d er
taken b y am niocentesis o r by cordocentesis and this can result in resolution o f the fetal
goiter.
TU M O R S OF TH E T H O R A X
Lung tumors
Fetal lu n g tu m o rs have n o t b een rep o rte d in the literature. O th e r lesions, w h ic h are
m alform ations, and w h ic h m ay appear as solid masses in the thorax, include cystic ade
n o id m alform ation o f lu n g and extralobar lu n g sequestration.
M ediastinal tumors
M ediastinal tu m o rs (w hich include neuroblastom a and hem angiom a) m ay cause
m ediastinal shift, lu n g hypoplasia, hydrops and polyhydram nios (due to esophageal
com pression).
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FETAL T U M O R S
Rhabdomyoma (hamartoma) o f the heart

R h a b d o m y o m a (w hich represents excessive g ro w th o f cardiac m uscle) is the m ost
c o m m o n prim ary cardiac tu m o r in the fetus, neo n ate, and y o u n g child; the birth preva
lence is 1 p e r 10 000. In 50% o f cases, the tu m o r is associated w ith tuberous sclerosis
(autosom al d o m in an t co n d itio n w ith a high degree o f pen etran ce and variable
expressivity). T h e u ltrasound features are those o f a single o r m ultiple echogenic masses
im p in g in g u p o n th e cardiac cavities. T h e prognosis depends o n the n u m b er, size and
location o f the tum ors. T h e clinical spectrum varies from com pletely asym ptom atic to
severely ill. T h e m ortality rate in infants operated o n w ith in the first year o f life is about
30%. U p to 80% o f th e infants w ith tuberous sclerosis have seizures and m ental retarda
tio n , w h ich are th e m ost serious lo n g -te rm com plications o f the disease.
Intrapericardial teratoma
In the m ajority o f cases, the tu m o r is located in the right side o f the heart. It m ay reach a
size that is 2—3 tim es th at o f the norm al heart. T h e tu m o r m ay be cystic o r
p edunculated. Pericardial effusion is always present and results fro m ru p tu re o f cystic
areas w ith in the tu m o r, o r fro m o b stru ctio n o f cardiac and pericardial lym phatic veins.
C ardiac tam ponade and hydrops m ay develop and the prognosis is very poor.
TUM O RS OF TH E A B D O M E N A N D
R E T R O PER ITO N EU M
H epatic tumors
P rim ary hepatic tu m o rs (hem angiom a, m esenchym al ham artom a, hepatoblastom a and
adenom a) are extrem ely rare. All hepatic tum ors m ay show the same sonographic fea
tures: eith er a defined lesion (cystic o r solid) is present o r hepatom egaly exists. Calcifi
cations m ay appear, and b o th oligohydram nios and polyhydram nios have b een
observed. T h e o th e r tu m o rs are very rare and litde is k n o w n ab o u t th eir natural history.
H em an g io m ata are histologically benign and they regress spontaneously after infancy.
H o w e v e r, occasionally, th ey are associated w ith arteriovenous shunting, congestive
heart failure and hydrops, resulting in in trau terin e o r neonatal death.
Neuroblastoma
T his is o n e o f the m ost c o m m o n tum ors o f infancy and is fo u n d in ab o u t 1 per 20 000
births. N euro b lasto m a arises from undifferentiated neural tissue o f the adrenal m edulla
o r sym pathetic ganglia in th e ab d o m en , thorax, pelvis, o r head and neck. U sually, the
lesion is isolated, b u t occasional metastasis before birth m ay occur. Sonographically,
th e tu m o r appears as a cystic, solid, o r com plex mass in the reg io n o f the adrenal gland
111
(directly above th e level o f th e kidney and u n d e r the diaphragm ). O ccasionally,

calcifications are present. T u m o rs arising fro m the sym pathetic ganglia m ay appear in
th e neck, chest, o r in th e ab d o m en . T h e re m ay be associated polyhydram nios and fetal
hydrops. T h e tu m o r can m etastasize in utero (placenta, liver, o r b lo o d vessels). T h e
prognosis is excellent i f th e diagnosis is m ade in utero o r in the first year o f life (survival
m ore than 90%), b u t, fo r those diagnosed after the first year, survival is less th an 20%.
Renal tumors
M esoblastic n e p h ro m a (renal ham artom a) is the m ost freq u en t renal tu m o r, w hile
W ilm s’ tu m o r (nephroblastom a) is extrem ely rare. T h e sonographic pictu re in b o th
tum ors is o f a solitary mass replacing the norm al architecture o f the kidney, and, in m ost
cases, th ere is associated polyhydram nios. C ystic areas m ay appear in b o th tum ors.
M esoblastic nep h ro m as are b en ign, and n ep h rec to m y is curative in th e m ajority o f
cases. W ilm s’ tu m o r is a genetically heterogeneous group o f m alignant tum ors and up
to 60% o f affected cases are associated w ith genetic syndrom es (such as B eck w ith —
W ied em an n syndrom e). T re a tm e n t o f the tu m o r requires surgery, ch em o th erap y and
som etim es radiotherapy.
TUM O RS OF TH E EXTREM ITIES

T u m o rs o f the ex trem ities include:
(1) Vascular ham artosis; a m alform ation in w h ic h new ly fo rm ed vessels proliferate;
(2) H em an g io m a, a c o m b in e d lesion o f b o th skin and internal organs. T h e K lippel—

W e b e r-T re n a u n a y syndrom e should be considered in the differential diagnosis.
T h e hem angiom as m ay vary in size and location. Som e authors do n o t consider
th e m to be true tu m o rs, b u t rath er suspect th e m to represent vascular m alform a
tions;
(3) L ym phangiom a, a cavernous lym phangiom a, w h ic h involves the lym phatic vessels
and is related to cystic hygrom a;
(4) Sarcom a (m ainly rhabdom yosarcom a); this should be distinguished fro m infantile
m yofibrom a tosis.
TUM O RS OF TH E SKIN
M alignant m elanom a is a rare tu m o r capable o f m etastasizing in to o th e r organs in clu d
ing th e fetal liver, lungs and placenta.
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FETAL T U M O R S
SACRO CO CCYG EAL TERA TO M A

T h e sacrococcygeal region is the m ost freq u en t site o f teratom as o f the fetus.
Prevalence
Sacrococcygeal teratom a is fo u n d in ab o u t 1 p e r 40 000 births. Females are four tim es
m ore likely to be affected than males, b u t m alignant change is m o re co m m o n in males.
Etiology
T his tu m o r is th o u g h t to arise from to tip o ten tial cells in H e n se n ’s node. A th eo ry o f
‘tw in n in g accid en t’ w ith in co m p lete separation d u ring em bryogenesis has also been
proposed. T h e co n d itio n is sporadic b u t som e cases are familial, w ith autosom al d o m i
n an t inheritance.
Diagnosis
Sacrococcygeal teratom as usually appear solid o r m ixed solid and cystic (m ultiple cysts
are irregular in shape and size). O ccasionally, the tu m o r is com pletely cystic, and m ore
rarely com pletely solid. M o st teratom as are extrem ely vascular, w h ic h is easily show n
using co lo r D o p p le r ultrasound. T h e tum ors m ay be entirely external, partially internal
and pardy external, o r m ainly internal. P olyhydram nios is frequent, and this m ay be due
to direct transudation in to th e am niotic fluid and due to fetal polyuria, secondary to the
hyperdynam ic circulation, w h ic h is the consequence o f arteriovenous shunting. Sim i
larly, h ig h -o u tp u t heart failure leading to hepatom egaly, placentom egaly and hydrops
fetalis can occur.
Prognosis
Sacrococcygeal terato m a is associated w ith a high perinatal m ortality (about 50%),
m ainly due to th e p re te rm delivery (the consequence o f polyhydram nios) o f a hydropic
infant req u irin g m ajo r neonatal surgery. D ifficult surgery, especially w ith tum ors that
ex te n d in to th e pelvis and ab d o m en , can result in nerve in ju ry and in co n tin en ce. T h e
tu m o r is invariably b e n ig n in th e neonatal p erio d b u t delayed surgery o r incom plete
excision can result in m alignant transform ation (about 10% before 2 m onths o f age to
ab o u t 80% b y 4 m onths).
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Hydrops fetalis
H ydrops is defined by abnorm al accum ulation o f serous fluid in skin (edem a) and body
cavities (pericardial, pleural, o r ascitic effusions).
Prevalence
H ydrops fetalis is fo u n d in a b o u t 1 p e r 2000 births.
Etiology
H ydrops is a non-specific finding in a w ide variety o f fetal and m aternal disorders,
including hem atological, chrom osom al, cardiovascular, renal, p u lm o n ary , gastro
intestinal, hepatic and m etabolic abnorm alities, congenital infection, neoplasm s and
m alform ations o f th e placenta o r um bilical c o rd (see Table o n n ex t page). H ydrops is
classically divided in to im m u n e (due to m aternal hem olytic antibodies) and n o n -
im m u n e (due to all o th e r etiologies). W ith the w idespread in tro d u c tio n o f im m u n o -
prophylaxis and th e successful trea tm en t o f R h esu s disease by fetal b lo o d transfusions,
n o n -im m u n e causes have b e co m e responsible for at least 75% o f the cases, and m ake a
greater c o n trib u tio n to perinatal m ortality. W h ile, in m any instances, the underlying
cause m ay be d e te rm in e d b y m aternal antibody and infection screening, fetal ultra
sound scanning, in clu d in g echocardiography and D o p p ler studies, and fetal b lood
sam pling, q u ite o ften th e abnorm ality rem ains unexplained even after expert po stm o r
tem exam ination.
Prognosis
A lth o u g h isolated ascites, b o th in fetuses and neonates, m ay be transitory, the spontane
ous resolution o f hydrops has n o t b een re p o rte d and the overall m ortality fo r this co n d i
tio n is ab o u t 80%.
Fetal therapy
Im m u n e hydrops can be successfully treated by b lo o d transfusions to the fetus. Such
treatm en t often results in reversal o f hydrops and the survival rate is a b o u t 80%. Fetal
115
therapy can also successfully reverse som e types o f n o n -im m u n e hydrops, such as fetal
tachyarrhythm ias (by transplacental o r direct fetal adm inistration o f antiarrhythm ic
drugs), pleural effusions (by p leu ro -am n io tic shunting), urinary ascites (by vesico-
am niotic o r p erito n eal-am n io tic shunting), parvovirus B 19 in fectio n o r severe
fetom aternal h em o rrh ag e (by fetal b lo o d transfusions), diaphragm atic hernia, cystic
ad en o m ato id m alform ation o f the lungs and sacrococcygeal teratom a (by o p en o r
endoscopic fetal surgery), and th e recipient fetus in tw in -to -tw in transfusion syndrom e
(by endoscopic laser coagulation o f the co m m u n icatin g placental vessels).
Causes of fetal hydrops
Heart failure Hypoproteinemia

Cardiac defects Renal defects
Dysrhythmias Gastrointestinal defects
Myocarditis Hepatic infiltration
Fetal anemia
Hepatic infiltration
Arteriovenous shunts
Fetal anemia
Mediastinal compression
Fetal infection
Cardiomyopathy
Metabolic disorder
Recipient in twin transfusion
F etal infection
Myocarditis
Cytomegalovirus
Coxsackie virus
Toxoplasmosis
Parvovirus B19
Rubella
A nem ia Syphylis
Red cell isoimmunization Hepatitis
Parvovirus B19
M etabolic disorder
Cytomegalovirus
Mucopolysaccharidosis
Alpha-thalassemia
Gaucher’s disease
Fetomaternal hemorrhage
Hurler’s syndrome
G-6-PD deficiency
Gangliosidosis
Arteriovenous shunts Sialidosis
Fetal tumor
Neuromuscular
Vein of Galen aneurysm
Fetal akinesia deformation sequence
Placental chorioangioma
Acardiac twin Chromosomal
Trisomies 21, 18 or 13
Mediastinal compression
Turner syndrome
Skeletal dysplasias
T riploidy
Diaphragmatic hernia
Cystic adenomatoid malformation
Pulmonary sequestration
Laryngeal obstruction
116
Small for gestational age
Sm all-for-gestational-age fetuses are defined by the finding that the abdom inal circu m
ference is b elo w th e 5th centile for gestation. A b o u t 80% o f such fetuses are c o n
stitutionally small, w ith n o increased perinatal death o r m orbidity, 15% are
g ro w th -restricted due to red u ced placental perfusion and ‘uteroplacental insufficiency’,
and 5% are g ro w th -re stric te d due to lo w g ro w th potential, the result o f genetic disease
o r en v iro n m en tal dam age.
Ultrasound findings
T h e finding o f a small abdom inal circum ference should stim ulate the sonographer to
consider fo u r possible causes: w ro n g dates, norm al small, abnorm al small o r starving
small fetus. A ccurate m easurem ents o f the head and abdom inal circum ference, fem ur
len g th and transverse cerebellar d iam eter should be taken and th eir various ratios should
be exam ined. A dditionally, a detailed exam ination should be earn ed o u t for the detec
tio n o f any defects o r m arkers o f chrom osom al abnorm alities (m ainly triploidy and
trisom y 18), and for assessment o f am niotic fluid and fetal activity.
In cases o f wrong dates, th ere m ay be a suggestive history (uncertain last m enstrual

perio d , irregular cycle, co n c e p tio n w ith in 3 m o n th s o f stopping the contraceptive pill
o r breast feeding), all m easurem ents are sym m etrically small, th ere are no obvious ana
tom ical defects, an d th e ir am niotic fluid volum e and fetal activity are norm al. A repeat
ultrasound ex am in atio n in 2 w eeks w ill dem onstrate an increase in fetal m easurem ents
and th e rate o f g ro w th is no rm al (the lines jo in in g the m easurem ents are parallel to the
appropriate n o rm al m ean for gestation).
In normal sm allfetuses, th e m o th e r is usually small (the m ain d ete rm in a n t o f fetal size

is m aternal size), and th e ultrasound findings are similar to pregnancies w ith w ro n g
dates. H o w ev er, a repeat scan in 2 w eeks m ay dem onstrate a fu rth e r deviation from
no rm al in th e various fetal m easurem ents.
117
In starving small fetuses, th e fetal m easurem ents dem onstrate asym m etry (the greatest
deficit is o bserved in the abdom inal circum ference, th en the fem ur length and finally
th e head circum ference w ith th e transverse cerebellar diam eter b ein g the least affected);
th ere are n o obvious fetal anatom ical defects, the am niotic fluid and fetal m o vem ents
are redu ced , the placenta is often th ick en ed w ith translucent areas (placental lakes) and
th ere are abnorm al D o p p le r w aveform s in th e uterin e a n d /o r um bilical arteries. In se
vere hypoxia, th e fetal heart appears dilated an d the b o w el is hyperechogenic o r m ildly
dilated.
In abnormal smallfetuses, th ere m ay be anatom ical defects suggestive o f chrom osom al

abnorm alities (in triploidy, th ere m ay be a m olar placenta or, in the presence o f a norm al
placenta, th e fetus dem onstrates severe asym m etrical g ro w th restriction, m ild v e n tri
culom egaly, m icrognathia, cardiac abnorm alities, m yelom eningocele, syndactyly, o r
‘h itc h -h ik e r’ to e deform ity; trisom y is characterized by straw berry-shaped head,
ch o ro id plexus cysts, absent corpus callosum , enlarged cisterna m agna, facial cleft,
m icrognathia, n uchal edem a, h eart defects, diaphragm atic hernia, esophageal atresia,
exom phalos, renal defects, m y elom eningocele, g ro w th retardation and sh o rten in g o f
the lim bs, radial aplasia, overlapping fingers and talipes o r ro ck er b o tto m feet). T h e
am niotic fluid m ay be norm al, decreased o r often increased. In congenital infection,
g ro w th restriction m ay be associated w ith features o f hydrops and brain abnorm alities
(ventriculom egaly, m icrocephaly o r cerebral calcifications).
Doppler ultrasound
D o p p le r u ltraso u n d provides a non-invasive m e th o d fo r the study o f fetal h e m o
dynam ics. Investigation o f the u terin e and um bilical arteries provides in form ation on
th e perfusion o f th e uteroplacental and fetoplacental circulations, respectively, w hile
D o p p le r studies o f selected fetal organs are valuable in detectin g the h em odynam ic re
arrangem ents that o c c u r in response to fetal hypoxem ia. In norm al pregnancy, im p ed
ance to flow in th e u te rin e artery decreases w ith gestation and this presum ably reflects
th e trophoblastic invasion o f th e spiral arteries and th eir conversion in to lo w resistance
vessels. Sim ilarly, th ere is a decrease in im pedance to flow in the um bilical arteries due
to progressive m atu ratio n o f th e placenta and increase in the n u m b er o f tertiary stem
villi.
In constitutionally small fetuses (normal small), D o p p le r studies o f the placental and

fetal circulations are norm al. Similarly, in g ro w th -restricted fetuses due to genetic
disease (abnormal small), th e results are o ften norm al. In g ro w th restriction due to
placental insufficiency (starving sm all) , th ere is increased im pedance to flow in the u te r
ine arteries (w ith th e characteristic w aveform o f early diastolic notching) and um bilical
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SMALL F O R G E ST A T IO N A L AGE
arteries (high pulsatility in d e x and, in severe cases, absence o f reversal o f end-diastolic

frequencies). H isto p ath o lo g ical studies have show n in this co n d itio n failure o f the
norm al d ev elo p m en t o f m aternal placental arteries in to lo w resistance vessels (and
th erefore red u ced o x ygen and n u trie n t supply to the intervillous space), and red u ctio n
in th e n u m b e r o f placental term inal capillaries and small m uscular arteries in the tertiary
stem villi (and th erefo re im p aired m aternal—fetal transfer). D o p p le r studies o f the fetal
circulation dem onstrate decrease in im pedance to flow in the m iddle cerebral arteries
and increase in im p edance in the descending thoracic aorta and renal artery. T hese find
ings suggest that, in fetal h y poxem ia, there is an increase in the b lo o d supply to the brain
and red u ctio n in th e p erfusion o f the kidneys, gastrointestinal tract and the low er
extrem ities. A lth o u g h k n o w ledge o f the factors go v ern in g circulatory readjustm ents
and their m echanism o f actio n is incom plete, it appears th at partial pressures o f oxygen
and carb o n dioxide play a role, presum ably th ro u g h th eir action o n chem oreceptors. In
severe fetal hy p o x em ia, th ere is decom pensation in the cardiovascular system and right
heart failure. T his is m anifested by the absence o r reversal o f forw ard flow du rin g atrial
co n tractio n in th e ductus venosus and this is a sign o f im p e n d in g fetal death.
Chromosomal defects
A lth o u g h lo w b irth w e ig h t is a c o m m o n feature o f m any chrom osom al abnorm alities,
the incidence o f ch ro m o so m al defects in sm all-for-gestational-age neonates is less than
1—2%. H o w ev er, data d eriv ed from postnatal studies underestim ate th e association
b etw een ch ro m o so m al abnorm alities and g ro w th restriction, since m any pregnancies
w ith chrom osom ally abnorm al fetuses result in in trau terin e death. T h u s, in fetuses p re
senting w ith g ro w th restriction in the second trim ester, the incidence o f chrom osom al
abnorm alities is 10—20%. T h e chrom osom al abnorm alities associated w ith severe
g ro w th restriction are triploidy, trisom y 18 and deletion o f the short arm o f c h ro m o
som e 4. T h e in cid en ce o f chrom osom al defects is m u ch hig h er in:
(1) Fetuses w ith m ultiple m alform ations than in those w ith no structural defects;
(2) T h e g ro u p w ith no rm al o r increased am niotic fluid v o lu m e than in those w ith

red u ced o r absent am n io tic fluid; and,
(3) T h e g roup w ith no rm al w aveform s fro m b o th u terin e and um bilical arteries than in
those w ith abnorm al w aveform s from e ith er o r b o th vessels.
A substantial p ro p o rtio n o f the chrom osom ally abnorm al fetuses dem onstrates the
asym m etry (high h ead to ab d o m en circum ference ratio) th o u g h t to be typical for
uteroplacental insufficiency; in d eed the m ost severe fo rm o f asym m etrical gro w th
restriction is fo u n d in fetuses w ith triploidy.
119
G ro w th restrictio n can also be caused by co nfined placental mosaicism . In this c o n

d itio n , w h ic h is fo u n d in ab o u t 1% o f pregnancies, the fetal karyotype is norm al b u t
th ere are tw o different chrom osom al com plem ents in the placenta (one is usually
n o rm al and th e o th e r an autosom al trisom y). Placental m osaicism is also associated w ith
unip aren tal disom y (inheritance o f tw o hom o lo g o u s chrom osom es from one parent),
w h ic h often results in g ro w th restriction.
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14
Abnormalities o f the amniotic
fluid volume
A m n io tic fluid is p ro d u c e d b y fetal urin atio n b u t, in the first 16 w eeks o f gestation,

additional sources include the placenta, am niotic m em branes, um bilical co rd and fetal
skin. R e m o v a l o f am n io tic fluid is by fetal sw allow ing. U ltrasonographically, the diag
nosis o f p o lyhydram nios o r o ligohydram nios is m ade w h en there is excessive o r virtual
absence o f ech o -free spaces aro u n d the fetus.
O L IG O H Y D R A M N IO S/A N H Y D R A M N IO S
O ligo h y d ram n io s m eans re d u ce d am niotic fluid and anhydram nios m eans absence o f
am niotic fluid.
Prevalence
O ligohydram nios in th e second trim ester is fo u n d in ab o u t 1 p e r 500 pregnancies.
Etiology
O ligohydram nios in th e second trim ester is usually the result o f p rete rm prem atu re ru p
tu re o f th e m em branes, utero placental insufficiency and urinary tract m alform ations
(bilateral renal agenesis, m ulticystic o r polycystic kidneys, o r urethral obstruction).
Diagnosis
T h e diagnosis o f oligohydram nios is usually m ade subjectively. Q u an titativ e criteria
include, first, th e largest single po ck et o f am niotic fluid b ein g 1 cm o r less, o r, second,
am niotic fluid in d ex (the sum o f the vertical m easurem ents o f the largest pockets o f
am niotic fluid in th e fo u r quadrants o f the uterus) o f less than 5 cm . In the absence o f
the ‘acoustic w in d o w ’ norm ally pro v id ed by th e am niotic fluid, and the ‘undesirable’
postures often a d o p ted b y these fetuses, co n fid en t exclusion o f fetal defects m ay be
im possible. N evertheless, the d etectio n o f a dilated bladder in urethral o b stru ctio n and
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DIAGNOSIS OF FETAL ABNORMALITIES: THE 18-23-WEEK SCAN
enlarged echogenic or multicystic kidneys in renal disease should be relatively easy. The
main difficulty is in the differential diagnosis o f renal agenesis. In cases o f preterm
prelabor rupture o f the membranes, detailed questioning o f the mother may reveal a
history o f chronic leakage of amniotic fluid. Furthermore, in uteroplacental insuffi
ciency, Doppler blood flow studies will often demonstrate high impedance to flow in
the placental circulation and redistribution in the fetal circulation. In the remaining
cases, intra-amniotic instillation o f normal saline may help to improve ultrasonographic
examination and lead to the diagnosis of fetal abnormalities like renal agenesis.
Prognosis
Bilateral renal agenesis, multicystic or polycystic kidneys are lethal abnormalities,
usually in the neonatal period due to pulmonary hypoplasia. Preterm rupture o f mem
branes at 20 weeks or earlier is associated with a poor prognosis; about 40% miscarry
within 5 days o f membrane rupture due to chorioamnionitis, and, in the remaining 60%
o f pregnancies, more than 50% o f neonates die due to pulmonary hypoplasia.
Uteroplacental insufficiency resulting in oligohydramnios at 18—23 weeks is very severe
and the most likely outcome is intrauterine death.
P O L Y H Y D R A M N IO S
Polyhydramnios means increased or excessive amniotic fluid volume.
Prevalence
Polyhydramnios in the second trimester is found in about 1 per 200 pregnancies.
Etiology
There are essentially two major causes o f polyhydramnios: reduced fetal swallowing or
absorption of amniotic fluid and increased fetal urination. R educed fetal swallowing
may be due to craniospinal defects (such as anencephaly), facial tumors, gastrointestinal
obstruction (such as esophageal atresia, duodenal atresia and small bowel obstruction),
compressive pulmonary disorders (such as pleural effusions, diaphragmatic hernia or
cystic adenomatoid malformation o f the lungs), narrow thoracic cage (due to skeletal
dysplasias), and fetal akinesia deformation sequence (due to neuromuscular impairment
o f fetal swallowing). Increased fetal unnation is observed in maternal diabetes mellitus
and maternal uremia (increased glucose and urea cause osmotic diuresis), hyperdynamic
fetal circulation due to fetal anemia (due to red cell isoimmunization or congenital
infection) or fetal and placental tumors or cutaneous arteriovenous malformations (such
as sacrococcygeal teratoma, placental chorioangioma), or tw in-to-tw in transfusion
syndrome.
1 22
A B N O R M A L IT IE S O F T H E A M N IO T IC FLUID V O L U M E
Diagnosis
T h e diagnosis o f polyhydram nios is usually m ade subjectively. Q uantitatively, poly
hydram nios is defined as an am niotic fluid index (the sum o f the vertical m easurem ents
o f th e largest pockets o f am niotic fluid in the four quadrants o f the uterus) o f 20 cm or
m ore. A lternatively, the vertical m easurem ent o f the largest single po ck et o f am niotic
fluid free o f fetal parts is used to classify polyhydram nios in to m ild (8-11 cm ), m oderate
(12—15 cm) and severe (16 cm o r m ore). A lth o u g h 80% o f cases w ith m ild poly
hydram nios are considered to be idiopathic, in the m ajority o f cases w ith m oderate o r
severe polyhydram nios th ere are m aternal o r fetal disorders. In m ost cases, poly
hydram nios develops late in the second o r in the th ird trim ester o f pregnancy. A cute
polyhydram nios at 1 8 -2 3 w eeks is m ainly seen in association w ith tw in -to -tw in trans
fusion syndrom e. T estin g for m aternal diabetes, detailed sonographic exam ination for
anom alies, and fetal karyotyping should constitute the cornerstones o f the diagnostic
p ro to c o l in the investigation o f these cases.
Prenatal therapy
T h e aim is to reduce th e risk o f very prem ature delivery and the m aternal discom fort
that often accom panies severe polyhydram nios. T re a tm e n t will obviously dep en d on
th e diagnosis, and will inclu d e b e tte r glycem ic co n tro l o f m aternal diabetes m ellitus,
antiarrhythm ic m edication for fetal hydrops due to dysrhythm ias, th o raco am n io tic
sh u n tin g for fetal p u lm o n ary cysts o r pleural effusions. F or the o th e r cases, p o ly
hydram nios m ay be treated by repeated am niocenteses every few days and drainage o f
large volum es o f am niotic fluid. H o w e v e r, the p ro ced u re itself may precipitate pre
m ature labor. A n alternative and effective m e th o d o f treatm en t is m aternal adm inistra
tio n o f in d o m eth acin ; h o w ev er, this dru g m ay cause fetal ductal constriction, and close
m o n ito rin g by serial fetal ech ocardiographic studies is necessary. In tw in -to -tw in trans
fusion syndrom e, p resenting w ith acute polyhydram nios at 18—23 w eeks o f gestation,
endoscopic laser occlusion o f placental anastom oses o r serial am niodrainage m ay be
carried out.
Prognosis
T his depends on the cause o f polyhydram nios.
123
Appendix I: Risk o f major
trisomies in relation to maternal
age and gestation
Table 1 Trisomy 21 (Snijders et al. Ultrasound O bstel Gynecol 1999;13:167-70)
Gestational age
Maternal age
(years) 1 0 weeks 12 weeks 14 weeks 16 weeks 2 0 weeks 4 0 weeks
20 1/983 1/1068 1/1140 1/1200 1/1295 1/1527

25 1/870 1/946 1/1009 1/1062 1/1147 1/1352
30 1/576 1/626 1/668 1/703 1/759 1/895
31 1/500 1/543 1/580 1/610 1/658 1/776
32 1/424 1/461 1/492 1/518 1/559 1/659
33 1/352 1/383 1/409 1/430 1/464 1/547
34 1/287 1/312 1/333 1/350 1/378 1/446
35 1/229 1/249 1/266 1/280 1/302 1/356
36 1/180 1/196 1/209 1/220 1/238 1/280
37 1/140 1/152 1/163 1/171 1/185 1/218
38 1/108 1/117 1/125 1/131 1/142 1/167
39 1/82 1/89 1/95 1/100 1/108 1/128
40 1/62 1/68 1/72 1/76 1/82 1/97
41 1/47 1/51 1/54 1/57 1/62 1/73
42 1/35 1/38 1/41 1/43 1/46 1/55
43 1/26 1/29 1/30 1/32 1/35 1/41
44 1/20 1/21 1/23 1/24 1/26 1/30
45 1/15 1/16 1/17 1/18 1/19 1/23
125
Table 2 Trisomy 18 (Snijders et al. Fetal Diag T her 1995;10:356-67)
Gestational age
--
(years) 70 weeks 12 weeks 14 weeks 16 weeks 2 0 weeks 4 0 weeks
20 1/1993 1/2484 1/3015 1/3590 1/4897 1/18013

25 1/1765 1/2200 1/2670 1/3179 1/4336 1/15951
30 1/1168 1/1456 1/1766 1/2103 1/2869 1/10554
31 1/1014 1/1263 1/1533 1/1825 1/2490 1/9160
32 1/860 1/1072 1/1301 1/1549 1/2490 1/7775
33 1/715 1/891 1/1081 1/1287 1/1755 1/6458
34 1/582 1/725 1/880 1/1047 1/1429 1/5256
35 1/465 1/580 1/703 1/837 1/1142 1/4202
36 1/366 1/456 1/553 1/659 1/899 1/3307
37 1/284 1/354 1/430 1/512 1/698 1/2569
38 1/218 1/272 1/330 1/393 1/537 1/1974
39 1/167 1/208 1/252 1/300 1/409 1/1505
40 1/126 1/157 1/191 1/227 1/310 1/1139
41 1/95 1/118 1/144 1/171 1/233 1/858
42 1/71 1/89 1/108 1/128 1/175 1/644
43 1/53 1/66 1/81 1/96 1/131 1/481
44 1/40 1/50 1/60 1/72 1/98 1/359
Table 3 Trisomy 13 (Snijders et al. Fetal Diag Ther 1995;10:356-67)
Gestational age
M aternal age
(years) 1 0 weeks 12 weeks 14 weeks 16 weeks 2 0 weeks 40 weeks
20 1/6347 1/7826 1/9389 1/11042 1/14656 1/42423

25 1/5621 1/6930 1/8314 1/9778 1/12978 1/37567
30 1/3719 1/4585 1/5501 1/6470 1/8587 1/24856
31 1/3228 1/3980 1/4774 1/5615 1/7453 1/21573
32 1/2740 1/3378 1/4052 1/4766 1/6326 1/18311
33 1/2275 1/2806 1/3366 1/3959 1/5254 1/15209
34 1/1852 1/2284 1/2740 1/3222 1/4277 1/12380
35 1/1481 1/1826 1/2190 1/2576 1/3419 1/9876
36 1/1165 1/1437 1/1724 1/2027 1/2691 1/7788
37 1/905 1/1116 1/1339 1/1575 1/2090 1/6050
38 1/696 1/858 1/1029 1/1210 1/1606 1/4650
39 1/530 1/654 1/784 1/922 1/1224 1/3544
40 1/401 1/495 1/594 1/698 1/927 1/2683
41 1/302 1/373 1/447 1/526 1/698 1/2020
42 1/227 1/280 1/335 1/395 1/524 1/1516
43 1/170 1/209 1/251 1/295 1/392 1/1134
44 1/127 1/156 1/187 1/220 1/292 1/846
126
Appendix II: Antenatal
sonographic findings in skeletal
dysplasias
T yp e o f lim b sh orten in g
R hizom elia Micromelia

T h a n ato p h o ric dysplasia A chondrogenesis
A telosteogenesis Atelosteogenesis
C hondrodysplasia p u n ctata (rhizom elic S h ort-rib polydactyly syndrom e (types I
type) and III)
D iastrophic dysplasia D iastrophic dysplasia
C ong en ital short fem u r F ibrochondrogenesis
A chondroplasia O steogenesis im perfecta (type II)
Mesomelia K niest dysplasia
M esom elic dysplasia D yssegm ental dysplasia
C O V E S D E M association
A crom elia
Ellis—V an C rev eld syndrom e
A ltered th oracic d im en sio n s
Long narrow thorax Short thorax

A sphyxiating thoracic dysplasia O steogenesis im perfecta (type II)
Ellis—V an C rev eld syndrom e K niest’s dysplasia
M etatro p ic dysplasia P ena—S hokeir syndrom e
F ibrochondrogenesis H ypoplastic thorax
A telosteogenesis S ho rt-rib polydactyly syndrom e {types I
C am pom elic dysplasia and II)
J a rc h o -L e v in syndrom e T h an a to p h o ric dysplasia
A chondrogenesis C e reb ro -co sto -m an d ib u lar syndrom e
H ypophosphatasia C leidocranial dysostosis syndrom e
D yssegm ental dysplasia H o m ozygous achondroplasia
C leidocranial dysplasia M elnick—N eedles syndrom e
(osteodysplasty)
Fibrochondrogenesis
O topalatodigital syndrom e (type II)
127
H and and fo o t ab norm alities
Postaxial polydactyly Brachydactyly

C h o n d ro e c to d e rm a l dysplasia M esom elic dysplasia R o b in o w type
S hort rib-polydactyly syndrom e (type I, O topalatodigital syndrom e
type III)
A sphyxiating thoracic dysplasia H itch-hiker thumb
O to p alatodigital syndrom e D iastrophic dysplasia
M esom elic dysplasia W e rn e r type
(associated w ith absence o f thum bs) Clubfeet deformity
D iastrophic dysplasia
Preaxial polydactyly O steogenesis im perfecta
C h o n d ro e c to d e rm a l dysplasia K niest dysplasia
S h o rt-rib polydactyly syndrom e type II Spondyloepiphyseal dysplasia congenita
C a rp e n te r syndrom e
Syndactyly
P o lan d syndrom e
C a rp e n te r syndrom e
A per syndrom e
O topalatodigital syndrom e (type II)
M esom elic dysplasia W e rn e r type
T A R syndrom e
Jarch o —L evin syndrom e
R o b e rts syndrom e
Skull and face d eform ities
Large head Clover-leaf skull

A chondroplasia T h an a to p h o ric dysplasia (type II)
A chondrogenesis C am pom elic syndrom e
T h a n a to p h o ric dysplasia
O steogenesis im perfecta O ther craniostenosis
C leidocranial dysplasia A p e rt’s syndrom e
H ypophosphatasia C a rp e n ter syndrom e
C am p o m elic syndrom e H ypophosphatasia
S hort rib-polydactyly syndrom e (type III)
R o b in o w m esom elic dysplasia Congenital cataracts
O to p alatodigital syndrom e C hondrodysplasia punctata
128
A P P E N D IX II
Cleft palate Micrognathia

A sphyxiating thoracic dysplasia C am pom elic dysplasia
K niest dysplasia D iastrophic dysplasia
D iastrophic dysplasia O topalatodigital syndrom e
Spondyloepiphyseal syndrom e A chondrogenesis
C am p o m elic syndrom e M esom elic dysplasia
Ja rc h o —L evin syndrom e A rthrogryposis m ultiplex congenita
C h o n d ro e c to d e rm a l dysplasia N ag e r acrofacial dysostosis
S h o rt-rib polydactyly syndrom e (type II) O ro m an d ib u lar lim b hypogenesis
M etatro p ic dysplasia A telosteogenesis
D yssegm ental dysplasia
O to p alatodigital syndrom e (type II)
Hypertelorism
O to p alatodigital syndrom e
A rthrogryposis m ultip lex congenita
Larsen’s syndrom e
C leidocranial dysplasia
A chondroplasia
C am pom elic dysplasia
C offin syndrom e
K lippel—Feil syndrom e
A p er syndrom e
Sprengel’s deform ity
M esom elic dysplasia
H o lt—O ra m syndrom e
129
Appendix III: Fetal biometry at
14-40 weeks o f gestation
T able 1 B iparietal d iam eter
T able 2 H e a d circum ference
T able 3 A n te rio r cerebral ventricle diam eter
T able 4 P o sterio r cerebral ventricle diam eter
T able 5 A n te rio r cerebral ventricle diam eter to hem isphere diam eter ratio
T able 6 P o sterio r cerebral ventricle d iam eter to hem isphere diam eter ratio
T able 7 Transverse cerebellar diam eter
T able 8 C isterna m agna diam eter
T able 9 A bd o m in al circum ference
T able 10 H e a d circum ference to abdom inal circum ference ratio
T able 11 F em u r len g th
T able 12 H e a d circum ference to fem ur len g th ratio
131
T h e norm al ranges for fetal b io m etry presented in this section w e re established from
cross-sectional data o n 1040 singleton pregnancies at 1 4 -4 0 w eeks o f gestation
(Snijders & N icolaides, Ultrasound Obstet Gynecol 1994;4:34-48). T h e patients fulfilled
th e follow ing criteria: (1) k n o w n last m enstrual p erio d w ith a cycle length o f 26—30
days, (2) n o fetal abnorm alities and no pregnancy com plications, (3) live b irth at term ,
(4) b irth w eig h t above th e 3 rd and b elo w the 9 7 th centile fo r gestation (Y udkin et a i,
Early H u m D ev 1 987;15:45-52). F o r each 7-day interval fro m 14 to 40 w eeks, 40
patients w ere included.
M easurem ents o f biparietal diam eter (B PD ), occip ito -fro n tal d iam eter (O F D ),
an terio r and p o sterio r cerebral ventricle diam eter (Va and V p), and hem isphere (H)
w ere o b tain ed from a transverse axial plane o f the fetal head sh ow ing a central m id-line
ech o b ro k e n in th e an terio r th ird by the cavum septii pellucidi and d em onstrating the
an terio r and p o sterio r horns o f the lateral ventricles. B P D and O F D w ere m easured
fro m th e o u te r borders o f the skull and head circum ference (H C ) was calculated
[3.14 X (B P D + O F D )/2 ]. Va was the distance b e tw e e n the lateral w all o f the an terio r
h o rn to th e m id -lin e and V p was the distance b etw e e n the m edial and lateral walls o f the
p o sterio r h o rn . T h e hem isphere was m easured fro m the m id -lin e to the in n e r b o rd e r o f
th e skull. T ransverse cerebellar d iam eter (T C D ) and cisterna m agna d iam eter (CM )
w ere m easured in the suboccipitobregm atic plane o f th e head. T h e fem u r len g th (FL)
was m easured from th e g reater tro ch an ter to the lateral condyle. F o r abdom inal cir
cum feren ce (A C ), a transverse section o f the fetal abd o m en was taken at the level o f the
stom ach and th e b ifurcation o f the m ain portal vein in to its right and left branches. T h e
an tero p o sterio r (A D I) and transverse (AD2) diam eters w ere m easured and A C was cal
culated [3.14 X (A D l+ A D 2 )/2 ]. T h e follow ing ratios w ere calculated: H C /A C ,
H C /F L , V a /H an d V p /H .
F or each o f th e m easurem ents and th eir ratios, regression analysis was applied exam
in in g linear, quadratic an d cubic m odels for the association w ith gestational age (in
days). F o r those m easurem ents w h ere the standard d ev iation increased o r decreased
w ith gestation, logarithm ic o r square ro o t transform ation was applied to stabilize vari
ance. If th e quadratic o r cubic term s did n o t im p ro v e the original lin ear m odel (an in d e
p e n d e n t co rrelatio n w ith p < 0.05 and im p ro v e m e n t o f the co rrelatio n coefficient), the
linear m o d el was chosen as th e best fit. W h e re the quadratic o r cubic c o m p o n en ts did
im p ro v e th e m odel, th ey w ere included in the eq u atio n fo r the regression line. E qua
tions for regression lines o n transform ed data w ere used to calculate the m ean and resid
ual SD in transform ed units. T o p ro d u ce the reference ranges in the original units, the
m ean and lim its o f the calculated reference range in transform ed units w ere subjected to
anti-lo g arith m ic o r p o w e r transform ation as appropriate.
132
A PPE N D IX III
Table 1 Biparietal diameter (mm)
Gestation 5th median 95th
1 4 + 0 -1 4 + 6 28 31 34
1 5 + 0 -1 5 + 6 31 34 37
1 6 + 0 -1 6 + 6 34 37 40
1 7 + 0 -1 7 + 6 36 40 43
1 8 + 0 -1 8 + 6 39 43 47
1 9 + 0 -1 9 + 6 42 46 50
20+0 - 20+6 45 49 54
2 1 + 0 -2 1 + 6 48 52 57
22+0 - 22+6 51 56 61
23+0 - 23+6 54 59 64
24+0 - 24+6 57 62 68
2 5 + 0 -2 5 + 6 60 66 71
26+0 - 26+6 63 69 75
27+0 - 27+6 66 72 78
28+0 - 28+6 69 75 81
2 9 + 0 -2 9 + 6 72 78 85
30+0 - 30+6 74 81 88
3 1 + 0 -3 1 + 6 77 83 90
32+0 - 32+6 79 86 93
33+0 —33+6 81 88 96
34+0 - 34+6 83 90 98 Gestational age (weeks)
3 5 + 0 -3 5 + 6 85 92 100
36+0 —36+6 86 94 102
37+0 - 37+6 87 95 103
38+0 - 38+6 88 96 104
3 9 + 0 -3 9 + 6 89 97 105
Table 2 Head circumference (mm)
Gestation 5 th median 95th
1 4 + 0 - 14+6 102 110 118

1 5 + 0 - 15+6 111 120 129
1 6 + 0 - 16+6 120 130 140
1 7 + 0 -1 7 + 6 130 141 152
1 8 + 0 - 18+6 141 152 164
1 9 + 0 -1 9 + 6 151 163 176
20+0 - 20+6 162 175 189
2 1 + 0 -2 1 + 6 173 187 201
22+0 - 22+6 184 198 214
23+0 - 23+6 195 210 227
24+0 - 24+6 206 222 240
2 5 + 0 -2 5 + 6 217 234 252
26+0 —26+6 227 245 264
27+0 - 27+6 238 256 11 1
28+0 - 28+6 248 267 288
29+0 - 29+6 257 277 299
30+0 - 30+6 266 287 309
3 1 + 0 -3 1 + 6 274 296 319
32+0 - 32+6 282 304 328
33+0 - 33+6 288 311 336
34+0 - 34+6 294 317 342
Gestational age (weeks)
35+0 - 35+6 299 323 348
36+0 - 36+6 303 327 353
37+0 - 37+6 306 330 356
38+0 - 38+6 308 332 358
39+0 - 39+6 309 333 359
133
Table 3 Anterior cerebral ventricle diameter (mm)
1 4 + 0 - 14+6 5.2 6.7 8.1

1 5 + 0 -1 5 + 6 5.3 6.8 8.3
16+0 —16+6 5.4 6.9 8.4
1 7 + 0 -1 7 + 6 5.6 7.0 8.5
1 8 + 0 -1 8 + 6 5.7 7.2 8.6
1 9 + 0 -1 9 + 6 5.8 7.3 8.8
20+0 - 20+6 5.9 7.4 8.9
2 1 + 0 -2 1 + 6 6.1 7.5 9.0
22+0 - 22+6 6.2 7.7 9.2
23+0 - 23+6 6.3 7.8 9.3
24+0 - 24+6 6.4 7.9 9.4
2 5 + 0 -2 5 + 6 6.6 8.1 9.5
26+0 - 26+6 6.7 8.2 9.7
2 7 + 0 -2 7 + 6 6.8 8.3 9.8
28+0 - 28+6 7.0 8.4 9.9
29+0 - 29+6 7.1 8.5 10.1
30+0 - 30+6 7.2 8.7 10.2
3 1 + 0 -3 1 + 6 7.3 8.8 10.3
32+0 - 32+6 7.5 9.0 10.4
33+0 - 33+6 7.6 9.1 10.6 Gestational age (weeks)
34+0 - 34+6 7.7 9.2 10.7
35+0 - 35+6 7.9 9.3 10.8
36+0 —36+6 8.0 9.5 10.9
37+0 - 37+6 8.1 9.6 11.1
3 8 + 0 - 38+6 8.2 9.7 11.2
39+0 - 39+6 8.3 9.8 11.3
Table 4 Posterior cerebral ventricle diameter (mm)
1 4 + 0 - 14+6 5.1 6.7 8.4

1 5 + 0 - 15+6 5.1 6.8 8.5
16+0 —16+6 5.2 6.9 8.6
1 7 + 0 - 17+6 5.3 7.0 8.7
1 8 + 0 - 18+6 5.4 7.1 8.8
1 9 + 0 -1 9 + 6 5.5 7.2 8.8
20+0 - 20+6 5.6 7.2 8.9
2 1 + 0 -2 1 + 6 5.6 7.3 9.0
22+0 - 22+6 5.7 7.4 9.1
23+0 - 23+6 5.8 7.5 9.2
24+0 - 24+6 5.9 7.6 9.3
25+0 - 25+6 6.0 7.7 9.3
26+0 —26+6 6.1 7.7 9.4
27+0 - 27+6 6.1 7.8 9.5
2 8 + 0 -2 8 + 6 6.2 7.9 9.6
29+0 - 29+6 6.3 8.0 9.7
30+0 - 30+6 6.4 8.1 9.8
3 1 + 0 -3 1 + 6 6.5 8.2 9.9
32+0 - 32+6 6.6 8.3 9.9
33+0 —33+6 6.7 8.3 10.0 Gestational age (weeks)
34+0 - 34+6 6.7 8.4 10.1
3 5 + 0 -3 5 + 6 6.8 8.5 10.2
36+0 —36+6 6.9 8.6 10.3
37+0 - 37+6 7.0 8.7 10.4
38+0 - 38+6 7.1 8.8 10.4
39+0 - 39+6 7.2 8.8 10.5
134
A P P E N D IX III
Table 5 Anterior cerebral ventricle diameter to hemisphere diameter ratio

0.70
1 4 + 0 - 14+6 0.39 0.47 0.56 0.60

15+0 —15+6 0.36 0.43 0.51
1 6 + 0 - 16+6 0.33 0.40 0.48
17+0 - 17+6 0.31 0.37 0.44
1 8 + 0 - 18+6 0.29 0.35 0.41 0.50
1 9 + 0 - 19+6 0.27 0.32 0.39
2 0 + 0 - 20+6 0.26 0.31 0.37
2 1 + 0 - 21+6
2 2 + 0 - 22+6
0.24
0.23
0.29
0.28
0.35
0.33
| 0.40
2 3 + 0 - 23+6 0.22 0.27 0.32

2 4 + 0 - 24+6 0.21 0.26 0.31
2 5 + 0 - 25+6 0.21 0.25 0.30 0.30
26+0 —26+6 0.20 0.24 0.29
2 7 + 0 - 27+6 0.19 0.23 0.28
2 8 + 0 - 28+6 0.19 0.23 0.27
2 9 + 0 - 29+6 0.19 0.22 0.27 0.20
30+0 - 30+6 0.18 0.22 0.26
3 1 + 0 - 31+6 0.18 0.21 0.26
3 2 + 0 - 32+6 0.18 0.21 0.26 0.10
33+0 - 33+6 0.18 0.21 0.25
34+0 - 34+6 0.17 0.21 0.25
3 5 + 0 - 35+6 0.17 0.21 0.25 Gestational age (weeks)
3 6 + 0 - 36+6 0.17 0.21 0.25
3 7 + 0 - 37+6 0.17 0.21 0.25
3 8 + 0 - 38+6 0.17 0.21 0.25
3 9 + 0 - 39+6 0.17 0.21 0.25
Table 6 Posterior cerebral ventricle diameter to hemisphere diameter ratio
Gt'station 5th median 95th
1 4 + 0 - 14+6 0.36 0.45 0.56

15+0 —15+6 0.34 0.42 0.52
1 6 + 0 - 16+6 0.31 0.39 0.48
17+0 - 17+6 0.29 0.36 0.45
1 8 + 0 - 18+6 0.27 0.34 0.42
1 9 + 0 - 19+6 0.26 0.32 0.40
2 0 + 0 - 20+6 0.24 0.30 0.37
2 1 + 0 - 21+6 0.23 0.29 0.35
2 2 + 0 - 22+6 0.22 0.27 0.34
2 3 + 0 - 23+6 0.21 0.26 0.32
2 4 + 0 - 24+6 0.20 0.25 0.31
2 5 + 0 - 25+6 0.19 0.24 0.29
26+0 —26+6 0.18 0.23 0.28
2 7 + 0 - 27+6 0.18 0.22 0.27
28+0 - 28+6 0.17 0.21 0.26
2 9 + 0 - 29+6 0.17 0.21 0.26
3 0 + 0 - 30+6 0.16 0.20 0.25
31+0 —31+6 0.16 0.20 0.24
32+0 - 32+6 0.16 0.19 0.24
3 3 + 0 - 33+6 0.15 0.19 0.24
3 4 + 0 - 34+6 0.15 0.19 0.24
3 6 + 0 - 36+6 0.15 0.19 0.24
3 7 + 0 - 37+6 0.15 0.19 0.24
3 8 + 0 - 38+6 0.15 0.19 0.24
3 9 + 0 - 39+6 0.15 0.19 0.24
135
D IA G N O SIS O F FETAL A B N O R M A LITIES: T H E 1 8 -2 3 -W EEK SCA N
Table 7 Transverse cerebellar diameter (mm)
1 4 + 0 -1 4 + 6 12 14 15
1 5 + 0 -1 5 + 6 13 15 17
1 6 + 0 -1 6 + 6 14 16 18
1 7 + 0 -1 7 + 6 15 17 19
1 8 + 0 -1 8 + 6 16 18 21
1 9 + 0 -1 9 + 6 17 20 22
20+0 - 20+6 19 21 24
2 1 + 0 -2 1 + 6 20 22 25
22+0 - 22+6 21 24 27
23+0 - 23+6 22 25 28
24+0 - 24+6 24 26 30
2 5 + 0 -2 5 + 6 25 28 31
26+0 - 26+6 26 29 33
27+0 - 27+6 27 31 34
28+0 - 28+6 29 32 36
29+0 - 29+6 30 33 37
30+0 - 30+6 31 35 39
3 1 + 0 -3 1 + 6 32 36 40
32+0 - 32+6 34 37 42
33+0 - 33+6 35 39 43
36 40 44 Gestational age (weeks)
34+0 —34+6
3 5 + 0 -3 5 + 6 37 41 46
36+0 - 36+6 38 42 47
37+0 - 37+6 39 43 48
38+0 - 38+6 40 44 49
39+0 - 39+6 41 45 51
Table 8 Cisterna magna diameter (mm)
Gestation 5 th median 95th
1 4 + 0 -1 4 + 6 1.9 3.5 5.3

1 5 + 0 - 15+6 2.1 3.8 5.7
1 6 + 0 -1 6 + 6 2.4 4.1 6.0
1 7 + 0 - 17+6 2.6 4.3 6.3
1 8 + 0 -1 8 + 6 2.8 4.6 6.6
1 9 + 0 -1 9 + 6 3.1 4.9 6.9
20+0 - 20+6 3.3 5.1 7.2
2 1 + 0 -2 1 + 6 3.5 5.4 7.5
22+0 - 22+6 3.7 5.6 7.7
23+0 - 23+6 3.9 5.8 8.0
24+0 - 24+6 4.1 6.0 8.2
2 5 + 0 -2 5 + 6 4.3 6.2 8.5
26+0 —26+6 4.4 6.4 8.7
27+0 - 27+6 4.6 6.6 8.9
28+0 - 28+6 4.7 6.8 9.1
29+0 - 29+6 4.9 6.9 9.3
30+0 - 30+6 5.0 7.0 9.4
3 1 + 0 -3 1 + 6 5.1 7.2 9.6
32+0 - 32+6 5.2 7.3 9.7
33+0 - 33+6 5.3 7.4 9.8
3 4 + 0 -3 4 + 6 5.3 7.5 9.9 Gestational age (weeks)
3 5 + 0 -3 5 + 6 5.4 7.5 10.0
36+0 —36+6 5.4 7.6 10.0
37+0 - 37+6 5.4 7.6 10.1
38+0 - 38+6 5.5 7.6 10.1
39+0 - 39+6 5.5 7.6 10.1
136
A PPE N D IX III
Table 9 Abdominal circumference (mm)
14+0- 14+6 80 90 102

15+0 - 15+6 88 99 112
16+0- 16+6 96 108 122
17+0- 17+6 105 118 133
18+0- 18+6 114 128 144
19+0- 19+6 123 139 156
20+0- 20+6 133 149 168
21+0- 21+6 143 161 181
22+0- 22+6 153 172 193
23+0- 23+6 163 183 206
24+0- 24+6 174 195 219
25+0- 25+6 184 207 233
26+0- 26+6 195 219 246
27+0- 27+6 205 231 259
28+0- 28+6 216 243 272
29+0- 29+6 226 254 285
30+0- 30+6 237 266 298
31+0 - 31+6 246 277 310
32+0- 32+6 256 287 322
33+0 - 33+6 265 297 334
34+0- 34+6 274 307 345
35+0- 35+6 282 316 355 Gestational age (weeks)
36+0- 36+6 289 324 364
37+0- 37+6 295 332 372
38+0- 38+6 302 339 380
39+0- 39+6 307 345 387
Table 10 Head circumference to abdominal circumference ratio

1.50
1 4 + 0 - 14+6 1.12 1.23 1.33

1 5 + 0 - 15+6 1.11 1.22 1.32
1 6 + 0 - 16+6 1.10 1.21 1.31
1 7 + 0 - 17+6 1.09 1.20 1.30
1 8 + 0 - 18+6 1.09 1.19 1.29
1 9 + 0 - 19+6 1.08 1.18 1.29
2 0 + 0 - 20+6 1.07 1.17 1.28 1.20
21+0 —21+6 1.06 1.16 1.27 u
<
2 2 + 0 - 22+6 1.05 1.15 1.26 u
X
2 3 + 0 - 23+6 1.04 1.14 1.25
2 4 + 0 - 24+6 1.03 1.13 1.24
2 5 + 0 - 25+6 1.02 1.12 1.23
2 6 + 0 - 26+6 1.01 1.11 1.22
2 7 + 0 - 27+6 1.00 1.10 1.21 1.00
2 8 + 0 - 28+6 0.99 1.09 1.20
2 9 + 0 - 29+6 0.98 1.08 1.19
3 0 + 0 - 30+6 0.97 1.08 1.18 0.90
3 1 + 0 - 31+6 0.96 1.07 1.17
3 2 + 0 - 32+6 0.95 1.06 1.16
3 3 + 0 - 33+6 0.94 1.05 1.15
3 4 + 0 - 34+6 0.93 1.04 1.14
3 5 + 0 - 35+6 0.92 1.03 1.13
3 7 + 0 - 37+6 0.90 1.01 1.11
3 8 + 0 - 38+6 0.89 1.00 1.10
39+0 - 39+6 0.88 0.99 1.09
137
Table 11 Femur length (mm)
1 4 + 0 -1 4 + 6 14 17 19
1 5 + 0 -1 5 + 6 17 19 22
1 6 + 0 -1 6 + 6 19 22 25
1 7 + 0 -1 7 + 6 21 24 28
1 8 + 0 -1 8 + 6 24 27 30
1 9 + 0 -1 9 + 6 26 30 33
20+0 - 20+6 29 32 36
2 1 + 0 -2 1 + 6 32 35 39
2 2 + 0 -2 2 + 6 34 38 42
23+0 - 23+6 37 41 45
24+0 - 24+6 39 43 47
2 5 + 0 -2 5 + 6 42 46 50
2 6 + 0 -2 6 + 6 44 48 53
27+0 - 27+6 47 51 55
28+0 - 28+6 49 53 58
29+0 - 29+6 51 56 60
30+0 - 30+6 53 58 63
3 1 + 0 -3 1 + 6 55 60 65
32+0 - 32+6 57 62 67
33+0 - 33+6 59 64 69
34+0 - 34+6 61 66 71 Gestational age (weeks)
35+0 - 35+6 63 68 73
36+0 —36+6 64 69 74
3 7 + 0 -3 7 + 6 66 71 76
38+0 - 38+6 67 72 77
39+0 - 39+6 68 73 78
Table 12 Head circumference to femur length ratio
1 4 + 0 - 14+6 6.08 6.55 7.05

1 5 + 0 - 15+6 5.81 6.28 6.76
1 6 + 0 - 16+6 5.59 6.04 6.52
17+0 —17+6 5.40 5.84 6.31
1 8 + 0 - 18+6 5.23 5.67 6.13
1 9 + 0 - 19+6 5.09 5.53 5.98
2 0 + 0 - 20+6 4.98 5.41 5.85
2 1 + 0 - 21+6 4.88 5.31 5.75
2 2 + 0 - 22+6 4.80 5.22 5.66
23+0 - 23+6 4.74 5.16 5.59
2 4 + 0 - 24+6 4.69 5.11 5.54
2 5 + 0 - 25+6 4.65 5.06 5.50
2 6 + 0 - 26+6 4.62 5.03 5.46
2 7 + 0 - 27+6 4.60 5.01 5.44
2 8 + 0 - 28+6 4.58 4.99 5.41
2 9 + 0 - 29+6 4.56 4.97 5.40
3 0 + 0 - 30+6 4.54 4.95 5.38
31+0—31+6 4.52 4.93 5.36
32+0 - 32+6 4.50 4.91 5.34
3 3 + 0 - 33+6 4.48 4.89 5.31
34+0 - 34+6 4.45 4.85 5.27
3 6 + 0 - 36+6 4.35 4.76 5.17
3 7 + 0 - 37+6 4.29 4.69 5.11
3 8 + 0 - 38+6 4.21 4.61 5.02
39+0 - 39+6 4.12 4.51 4.92
138
WEB SITES P R O V ID IN G USEFUL IN FO R M A T IO N FOR
PR EN A TA L D IA G N O SIS
• T h e fetus o n line: h ttp ://w w w .th e fe tu s .n e t/

• M edline: h ttp ://w w w .n c b i.n im .n ih .g o v /P u b M e d /
• O n lin e M en d elian Inh eritance in M an:
h ttp ://w w w 3 .n c b i.n lm .n ih .g o v /O m im /s e a rc h o m im .h tm l
• P renatal D iagnosis o f C ong enital anomalies: h ttp ://w w w .p re n a ta ld ia g n o sis.c o m /
139
Index
Aase syndrom e, 96 anophthalm ia, 20

abdom en, anterior cerebral ventricle diameter, 134
anterior wall, 61—66 anus,
body stalk anomaly, 63 im perforate, 61
circum ference m easurem ents, 137 in cloacal exstrophy, 64
cysts in, aorta,
choledochal, 73 coarctation of, 3 4 -3 5 , 49
hepatic, 74 interrupted arch, 35
intestinal duplication, 74 stenosis of, 3 3 -3 4
m esenteric, 74 transposition of, 38
om ental, 74 tubular hypoplasia of, 34
ovarian, 73 aplasia—hypoplasia, 89
gastrointestinal tract, 67—75 arhinia, 24
gastroschisis, 62 asphyxiating thoracic dysplasia (Jeune
hepatic calcifications, 72 syndrom e), 88, 93
hepatosplenom egaly, 72 asplenia, 31
norm al sonographic anatomy, 61, 65, atresia,
66 anorectal, 68
om phalocele, 61 duodenal, 76, 68
standard scanning views for in fetus, 3 esophageal, 76, 67
tum ors of, 111-112 ileal, 76
umbilical vein abnormalities, 75 polyhydram nios in, 122
acheiria, 89 atrial septal defects, 28
achondrogenesis, 88, 89, 91 atrioventricular block, com plete, 47
achondroplasia, 92 atrioventricular septal defects, 29, 49
achondroplasia (heterozygous), 88
acromelia, 88
acrorenal syndrom e, 95 B eckw ith—W iedem ann syndrom e, 61, 72
adenom a, hepatic, 111 B eem er—Langer syndrom e, 93
agenesis o f corpus callosum, 9—10, 17 biom etry, 131—138
aglossia-adactylia syndrom e, 94 abdom inal circum ference, 137
anencephaly, 6, 15, 122 altered thoracic dimensions in skeletal
aneuploidy, atrioventricular septal defects dysplasias, 127
in, 30 anterior cerebral ventricle diameter,
aneurysm, vein o f G alen, 14 134
angiomatosis (systemic), 108 biparietal diam eter, 5, 133
anhydram nios, 121—122 brain, 15
141
cerebral anterior ventricle to see also central nervous system

hem isphere diam eter ratio, 135 standard scanning views for in fetus, 3
cerebral posterior ventricle to
hem isphere diam eter ratio, 135 calcifications,
cisterna magna diameter, 5, 136 hepatic, 72
D oppler m easurem ents o f small fetuses, in neuroblastom a, 112
118 cam pom elic dysplasia, 89, 92
feet, 89 cancer, see tum ors
fem ur length, 138 carcinogenesis, 105
hands, 89 cardiac dysrhythmias,
head, 90 com plete atrioventricular block, 47
head circum ference, 5, 133 prem ature contractions, 45
head circum ference to fem ur length tachyarrhythm ias, 4 5 -4 6
ratio, 138 cardiom yopathy, 46
head to abdom inal circum ference ratio, cardiosplenic syndromes, 31 -3 2
137 cardiovascular system,
lim b shortening in skeletal dysplasias, aortic coarctation, 34 -3 5
127 aortic stenosis, 3 2 -3 4
long bone assessment, 88 atrial septal defects, 28
nuchal fold, 103 atrioventricular septal defects, 29
posterior cerebral ventricle diameter, cardiosplenic syndromes, 31—32
134 conotruncal m alformations, 38
skull, 128 d o u b le-o u d et right ventncle, 40
small for gestational age fetuses, Ebstein’s anomaly, 43
117-119 echogenic foci, 44
thorax, 90 etiology o f abnormalities, 25
transverse cerebellar diameter, 5, 136 hypoplastic left heart syndrom e, 36
ultrasound for small fetuses, 117 interrupted aortic arch, 35
biparietal diam eter, 5, 133 prenatal diagnosis reliability, 25
bladder, prevalence o f abnormalities, 25
exstrophy, 61, 64, 65 pulm onary atresia, 37
see also urinary tract pulm onary stenosis, 37
ureterovesical ju n c tio n obstruction, 82 recurrence o f abnormalities in siblings
vesicoureteric reflux, 82 and offspring, 25
body stalk anomaly, 63 tetralogy o f Fallot, 29, 41—42, 50
Bourneville’s disease, 108 transposition o f great arteries, 38
bow el, hyperechogenic in chrom osom al tricuspid valve dysplasia, 43
defects, 103 truncus arteriosus com m unis, 42
brachydactyly, 128 univentricular heart, 3 2 -3 3
brain, ventricular septal defects, 28
biom etry of, 15 cataracts, congenital, 128
intracranial tum ors, 108-109 central nervous system,
norm al sonographic anatomy, 5 agenesis o f corpus callosum, 9
142
IN D EX
choroid plexus cysts, 13—14, 104 coarctation o f aorta, 34

D andy-W alker com plex, 10-11 com plete transposition, 50
destructive cerebral lesions, 12-13 congenital hypophosphatasia, 88
holoprosencephaly, 9 conotruncal m alformations, 38
hydrocephalus, 7 C ornelia de Lange syndrom e, tricuspid
megalencephaly, 12 valve dysplasia in, 43
microcephaly, 11-12 corpus callosum,
neural tube defects, 6 agenesis of, 9 -1 0
norm al sonographic anatomy, 5 lipom a of, 108
see also brain agenesis of, 17
vein o f Galen aneurysm, 14 C oxsackie B virus, tachyarrhythmias and,
ventriculom egaly, 7 46
cephalocele, 15 cystic adenom atoid m alform ation o f lung,
cerebral anterior ventricle to hem isphere 53
diam eter ratio, 135 cystic fibrosis, m econium ileus in, 71
cerebral posterior ventricle to hem isphere cysts,
diam eter ratio, 135 adult polycystic kidney disease, 80
cerebrocostom andibular syndrom e, 90 choledochal, 73
cervical teratom a, 110 choroid plexus in chrom osom al defects,
C H IL D syndrom e, 94 13-14, 104
chondrodysplasia punctata, 88 hepatic, 74
chondroectoderm al dysplasia, 89, 93 infantile polycystic kidney disease, 78
chorion villous sampling, lim b defects and, intestinal duplication, 74
94 m esenteric, 74
choroid plexus cysts, 13—14 multicystic dysplastic kidney disease, 79
in chrom osom al defects, 104 om ental, 74
choroid plexus papilloma, 108 ovarian, 73
chrom osom al defects, renal, 85
fetus size in, 118
grow th restriction in, 119 dacrocystocele, 20
chrom osom al defects, 9 9-104 D andy—W alker com plex, 18
incidence, 102 D andy-W alker m alform ation, 10
m aternal age and, 103 D andy-W alker variant, 10, 18
risks for, 100 de Lange syndrom e, diaphragmatic hernia
cisterna magna, in, 54
diameter, 136 diaphragm atic hernia, 5 4 -5 6 , 59
m easurem ent of, 5 diastrophic dysplasia, 89, 93
cleft lip, 21-22, 23, 24 d o u b le-o u tlet right ventricle, 40
cleft palate, 21-22, 24, 128 duodenal atresia, 76, 68
cleidocranial dysostosis syndrom e, 90
cloacal exstrophy, 64 E bstein’s anomaly, 43
clubfeet, 128 ectrodactyly, 95
clubhands, 95 E E C syndrom e, 95
143
Ellis-Van Creveld syndrom e, 87, 88, 90, gangliocytom a, 108

93 gastrointestinal tract,
encephalocele, 6 abnormalities linked to duodenal
epignathus, 109 atresia, 68
esophageal atresia, 67, 76 cystic fibrosis, 71
euryopia, 19 duodenal atresia, 68, 76
exom phalos, 61-62 esophageal atresia, 67, 76
hepatic calcifications, 72
hepatosplenomegaly, 72
face, H irschsprung’s disease, 70
abnormalities in holoprosencephaly, m econium peritonitis, 71, 76
9 norm al sonographic anatom y, 67
facial cleft, 21—22, 23 obstruction, 69
m icrognathia, 22-23 gastroschisis, 62, 65
norm al profile, 24 germ inom a, 108
norm al sonographic anatomy, 19 glioblastoma, 108
orbital defects, 19—20 goiter, 110
standard scanning views for in fetus, 3 G oldenhar syndrom e, 96
tum ors of, 109-110 G rebe syndrom e, 94
FADS (fetal akinesia deform ation
sequence), 96 ham artom a,
Fanconi pancytopenia, 89, 96 cardiac, 111
fetal akinesia deform ation sequence m esenchym al, 111
(FADS), 96 head,
fetal therapy, intracranial tum ors, 108—109
aortic stenosis, 34 measurem ents o f for skeletal dysplasia
cystic adenom atoid m alform ation o f diagnosis, 90
lung, 53 head circum ference, 5, 133
diaphragm atic hernia, 56 head circum ference to fem ur length ratio,
hydrocephalus, 8 138
hydrops fetalis, 115 head circum ference, to abdom inal
neural tube defects, 7 circum ference ratio, 137
obstructive uropathy, 83 heart,
pleural effusions, 57 assessment of,
polyhydram nios, 123 color D oppler, 27
tachyarrhythmias, 46 M -m ode, 27
ventriculomegaly, 8 pulsed w ave D oppler, 28
fibrochondrogenesis, 90 real-tim e tw o-dim ensional
fistula, tracheoesophageal, 67 evaluation, 26
Fontaine syndrom e, 95 atrial septal defects, 28
Fraser syndrom e, 78 atrioventricular septal defects, 29
Fryns syndrom e, diaphragmatic hernia in, d o u b le-o u d et right ventricle, 40
54 dysrhythmias, 4 5 -4 8 , 51
144
IN D EX
E bstein’s anomaly, 43 Jarch o -L ev in syndrom e, 90, 93

echogenic foci, 44 Jeu n e syndrom e (asphyxiating thoracic
in chrom osom al defects, 104 dysplasia), 90, 93
hypoplastic left heart syndrom e, 36
norm al four-cham ber view, 49
Karsch—N eugebauer syndrom e, 95
norm al rhythm , 51
kidney,
rhabdom yom a of, 111
adult polycystic kidney disease, 80
see also cardiovascular system
assessment o f fetal renal function, 84
standard scanning views for in fetus, 3
hydronephrosis, 81
tetralogy o f Fallot, 29, 41—42, 50
infantile polycystic kidney disease, 78
tricuspid valve dysplasia, 43
m ulticystic dysplastic kidney disease, 79
univentricular, 32-33
norm al sonographic urinary tract, 77,
ventricular septal defects, 28
85
hem angiom a, 72, 110, 111, 112
P o tter type III renal dysplasia, 80
hepatoblastom a, 61, 72, 111
renal agenesis, 77
hepatosplenomegaly, 72
tum ors of, 112
heterotaxy, see cardiosplenic syndromes
ureteropelvic ju n c tio n obstruction, 82
H irschsprung disease, 70, 76
Klippel—Feil syndrom e, 96
holoprosencephaly, 9
K lip p el-W eb er-T ren au n ay syndrom e, 112
alobar/sem ilobar, 16
K niest’s dysplasia, 90
lobar, 16
kyphoscoliosis in body stalk anomaly, 63
H o lt-O ra m syndrom e, 28, 89, 96
hydranencephaly, 12—13
hydrocephalus, 7 -8 , 16 Lewis upper lim b—cardiovascular
diaphragmatic hernia in, 54 syndrom e, 96
hydronephrosis, 81, 85 limbs,
in chrom osom al defects, 104 acromelia, 88
hydrops, assessment o f in skeletal dysplasias, 88
im m une, 72 chorion villous sampling and defects in,
n on-im m une, 72 94
hydrops fetalis, 115-116 clubhands, 95
hypertelorism , 19, 128 clubfoot, 128
hypophosphatasia, 89, 92 congenital am putations, 94
hypoplastic left heart syndrom e, 36 deficiencies, 94
hypoplastic ventricle, 49 femoral shortening, 95
hypotelorism , 20 fem ur length, 138
fem ur length, in chrom osom al defects,
ileal atresia, 76 104
im perforate anus, 61 m icrom elia, 88
iniencephaly, diaphragmatic hernia in, rhizom elia, 88
54 split hand and foot syndrom e, 95
intestinal obstruction, 69 standard scanning views for in fetus, 3
intracranial tum ors, 108—109 lipom a o f corpus callosum, 108
145
liver, m ethotrexate, m icrognathia and, 22

calcifications, 72 microcephaly, 11-12
cysts in, 74 m icrognathia, 22—23, 24, 129
hepatosplenomegaly, 72 m icrom elia, 88, 97, 127
tum ors of, 111 m icrophthalm ia, 20
lobster-claw deformity, 95 M oebius sequence, 94
lung, mosaicism, diaphragmatic hernia in, 54
cystic adenom atoid m alform ation of, m yoblastom a, 109
53, 59
norm al sonographic appearance, 59
N au m o ff syndrom e, 93
pleural effusions, 56
neck,
sequestration of, 57, 59
tum ors of, 110
tum ors of, 109—110
lupus erythem atosus, 47
nephroblastom a, 61
lym phangiom a, 112
neural tube defects, 6 -7
neuroblastom a, 110, 111—112
macroglossia, 24
calcifications in, 112
in B eckw ith—W iedem ann syndrom e,
neurofibrom atosis, 108
61
N o o n an syndrom e, 34
m acrosom ia in B eckw ith—W iedem ann
nuchal fold, chrom osom al defects and
syndrom e, 61
m easurem ent of, 103
M ajewski syndrom e, 93
malignancies, see tumors
mandibulofacial dysostosis, 95 obstruction, intestinal, 69
M arfan syndrome, obstructive uropathies, 81—84
diaphragmatic hernia in, 54 fetal therapy for, 83
tricuspid valve dysplasia in, 43 O EIS com plex, 64
m aternal age and chrom osom al defects, oligodendrogliom a, 108
103 oligohydram nios, 121—122
M eckel’s diverticulum , 68, 71 om phalocele, 65
m econium peritonitis, 76, 71 in B eck w ith -W ied em an n syndrom e,
mediastinal tum ors, 110 61
m edulloblastom a, 108 in cloacal exstrophy, 64
mega cisterna magna, 10, 18 orbital defects, 19—20
m egacystis-m icrocolon-intestinal organom egaly in B eck w ith -W ied em an n
hypoperistalsis syndrom e (M M IH S), 82 syndrom e, 61
m egalencephaly, 12 osteochondrodysplasias, 9 1 -9 3
m elanom a, 112 osteogenesis im perfecta type I, 88, 89, 91
M elnick-N eedles syndrome, 90 osteogenesis im perfecta type II, 88, 89, 91
m eningeal sarcoma, 108 osteogenesis im perfecta type III, 92
m eningom yelocele, in cloacal exstrophy, osteogenesis im perfecta type IV, 92
64 otocephaly, 22
mesomelia, 127 otopalatodigital syndrom e type, II 90
146
IN D E X
Pallister-Killian syndrom e, diaphragmatic single ventricles, 49

hernia in, 54 Sjogren’s disease, 47
Pena—Shokeir syndrom e, 90, 96 skeleton,
pentalogy o f Cantrell, 61 defects and duodenal atresia, 68
phocom elia, 89, 94 assessment o f fetal m ovem ent, 90
pleural effusions, 56 assessment o f hands and feet, 89
polydactyly, 89, 96, 127, 128 assessment o f head, 90
polyhydram nios, 122-123 assessment o flo n g bones, 88
in cystic adenom atoid m alform ation o f assessment o f thoracic dimensions, 90
lung, 53 dysplasias, 87—91
in diaphragmatic hernia, 55 norm al sonographic anatomy, 87, 97,
polysplenia, 31 98
porencephaly, 12-13 osteochondrodysplasias, 91—93
posterior cerebral ventricle diam eter, 134 sonographic findings in dysplasias, 127
P otter type I, 78, 85 skin, tum ors of, 112
P otter type II, 79, 85 skull,
P otter type III, 85 anencephalic, 15
P otter type III renal dysplasia, 80 cephalocele, 15
pulm onary atresia, 37 deformities of, 128
pulm onary hypoplasia, in diaphragmatic frontal bossing, 24
hernia, 55 in spina bifida, 15
pulm onary stenosis, 37 intracranial tum ors, 108-109
norm al, 15
renal agenesis, 77
small for gestational age, 117-119
rhabdom yom a, 46
spina bifida, 6, 18
cardiac, 111
diaphragmatic hernia in, 54
rheum atoid arthritis, 47
frontal bossing in, 15
rhizom elia, 88, 97, 127
sacral cf. norm al spine, 18
R o b e rt syndrom e, 22, 94
spine,
R o b in syndrom e, 22
norm al cf. sacral spina bifida, 16
norm al sonographic anatomy, 5
sacrococcygeal teratom a, 113 standard scanning views for in fetus, 3
Saldino—N o onan syndrom e, 93 split hand and foot syndrom e, 95
sarcoma, 112 stenopia, 20
m eningeal, 108 syndactyly, 90, 128
schizencephaly, 12—13
scleroderma, 47 tachyarrhythmias, 4 5 -4 6
screening for cardiac abnormalities, 26 drug therapies, 47
sequestration o f lungs, 57, 59 T A R syndrom e, 94, 96
sex chrom osom al abnormalities, 100 Taussig—Bing anomaly, 40
short lim b polydactyly syndromes, 93 teratom a,
short-rib polydactyly syndrom e, 90 cervical, 110
147
epignathus, 109 atrioventricular septal defects in, 30

intracranial, 108 duodenal atresia in, 68
intrapericardial, 111 echogenic foci in, 44
sacrococcygeal, 113 esophageal atresia in, 67
tetralogy o f Fallot, 29, 41—42, 50 H irschsprung’s disease in, 71
thanatophoric dwarfism, 89 risk for and m aternal age, 125
thanatophoric dysplasia, 88, 89, 91 tricuspid valve dysplasia in, 43
thorax, truncus, 50
altered dimensions in skeletal dysplasias, truncus arteriosus com m unis, 42
127 tuberous sclerosis, 108
hypoplasia, 98 tum ors,
m easurem ents o f for skeletal dysplasia abdom inal, 111-112
diagnosis, 90 benignity of, 106
see also diaphragm; heart; lung cervical, 109-110
standard scanning views for in fetus, 3 classification of, 106
tum ors of, 110-111 etiology, 105
throm bocytopenia, 89 facial, 109-110, 122
tracheoesophageal fistula, 67 hepatic, 112
transposition o f great arteries, 38 hepatoblastom a, 61, 72
transverse cerebellar diam eter, 5, 136 nephroblastom a, 61
Treacher Collins syndrom e, 22 neuroblastom a, 110, 111-112
tricuspid valve dysplasia, 43 o f extremities, 112
triploidy, 22, 100 o f skin, 112
abnormalities in, 101 prenatal diagnosis, 107
fetus size in, 118, 119 renal, 112
trisomy 13, 99 rhabdom yom a 111
diaphragm atic hernia in, 54 sarcoma 108, 112
om phalocele in, 62 teratom a, 108, 109, 110, 111, 113
risk for and m aternal age, 126 thoracic, 110
tricuspid valve dysplasia in, 43 T u rn er syndrom e, 34, 100
trisomy 18, 22, 99 abnormalities in, 101
abnormalities in, 101, 101 tricuspid valve dysplasia in, 43
atrioventricular septal defects in, 30
clubhands in, 96
diaphragmatic hernia in, 54 ultrasound, standard scanning views for
esophageal atresia in, 67 fetus, 3
fetus size in, 119 umbilical cord, short in body stalk
multicystic dysplastic kidney disease in, anomaly, 63
80 umbilical vein, abnormalities of, 75
om phalocele in, 62 univentricular heart, 3 2 -3 3
risk for and m aternal age, 126 ureteropelvic ju n c tio n obstruction, 82
trisomy 21, 99 ureterovesical ju n c tio n obstruction, 82
abnormalities in, 101 urinary tract,
148
IN D EX
megacystis—m icrocolon-intestinal vein o f G alen aneurysm , 14

hypoperistalsis syndrom e (M M IH S), ventricular septal defects, 28, 49
82 ventriculom egaly, 7 -8
norm al sonographic urinary tract, 77, borderline, 16
85 vesicoureteric reflux, 82
obstructive uropathies, 81—84 Von H ip p el-L in d au ’s disease, 108
ureteropelvic ju n c tio n obstruction, 82 Von R ecklinghausen’s disease, 108
ureterovesical ju n c tio n obstruction, 82
urethral obstruction, 83 Zellw eger syndrom e, 72
vesicoureteric reflux, 82
V A C T E R L association, 78
V A TER association, 67, 96
149

(Diploma in Fetal Medicine Series) G Pilu - K H Nicolaides - Diagnosis of Fetal Abnormalities - The 18-23-Week Scan-Parthenon Pub. Group (1999)

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(Diploma in Fetal Medicine Series) G Pilu - K H Nicolaides - Diagnosis of Fetal Abnormalities - The 18-23-Week Scan-Parthenon Pub. Group (1999)

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Diagnosis of

Gianluigi Pilu & Kypros H. Nicolaides

No claim to original U.S. Government works

International Standard Book Number-13: 978-1-84184-931-7 (eBook - PDF)

1 Standard view s for ex am ination o f the fetus 3

2 C en tral nervous system 5

Philippe Jeanty and G ianluigi Pilu

A ssessm ent o f th e fetal heart 26

Interrupted aortic arch 35

6 Anterior abdominal wall 61

8 K idneys and urinary tract 77

Gianluigi Pilu and Roberto Romero

10 Features o f chro m o so m al defects 99

Kypros Nicolaides and Rosalinde Snijders

11 Fetal tum ors 105

In tro d u c tio n 105

13 Small for gestational age 117

14 A bnorm alities o f th e am niotic fluid v o lu m e 121

O lig o h y d ram n io s/an h y d ram n io s 121

A pp en d ix II: A ntenatal sonographic findings in skeletal dysplasias 127

A p p en d ix III: Fetal b io m etry at 14—40 w eeks o f gestation 131

W eb sites p ro v id in g useful in fo rm ation for prenatal diagnosis 139

U ltraso u n d is th e m ain diagnostic to o l in the prenatal d etectio n o f congenital ab n o r­

T h e Fetal M edicine F o u n d atio n , u n d e r th e auspices o f th e In ternational Society o f

T his b o o k , w h ic h sum m arizes the prevalence, etiology, prenatal sonographic fea­

Standard views for examination

(2) B rain E x am in atio n o f cerebral ventricles, ch o ro id plexuses, m id-brain,

(3) Face E x am in atio n o f the profile, orbits and u p p er lip

(4) N eck M easu rem en t o f nuchal fold thickness

(5) Spine E x am in atio n b o th longitudinally and transversely

(6) H e a rt E x am in atio n o f rate and rh y th m , fo u r-ch a m b er view , and o u tflo w

E xam in atio n o f th e fetal brain can essentially be earn ed o u t by tw o transverse planes

A dditional scanning planes along different orientations m ay be req u ired from

NEU RAL TUBE DEFECTS

Encephaloceles are recognized as cranial defects w ith h erniated fluid-filled or

H Y D R O C EPH A LU S A N D VENTRICULO M EGALY

H O LO PRO SEN CEPH A LY

(3) M ega-cisterna m agna (norm al verm is and fo u rth ventricle).

D E STR U C TIV E CEREBRAL LESIONS

V EIN OF GALEN ANEURYSM

Normal fetal skull

Figure 3 A nen cep h aly and cephalocele

Sacral spina bifida

Figure 4 Spina bifida

Normal transventricular view

Figure 5 V entriculom egaly and hydrocephalus

Abnorm alities of posterior fossa

U n ila teral B ila teral M e d ian

Figure 8 Facial cleft

R eliability o f prenatal diagnosis

H o w e v e r, th e m ajority o f such studies refer to the prenatal diagnosis o f m oderate to

Screening fo r cardiac abnormalities

ASSESSM ENT OF THE FETAL H EART

E valuation o f the cardiac o u tflo w tracts can be difficult, b u t it is im p o rtan t to

Pulsed wave and color D oppler

ATRIAL SEPTAL DEFECTS

ou tlet defects, d e p en d in g o n th e ir location o n the septum . Perimembranous defects (80%)

m esenchym al masses (endocardial cushions). A b norm al dev elo p m en t o f these struc­

U ltraso u n d is th e m ain diagnostic to o l in the prenatal d etectio n o f congenital ab n o r

T his b o o k , w h ic h sum m arizes the prevalence, etiology, prenatal sonographic fea

m esenchym al masses (endocardial cushions). A b norm al dev elo p m en t o f these struc

o f m ore than 200 b eats/m in , particularly if there is associated hydrops a n d /o r poly

perforation is increased if a th in rim o f ascites is also dem onstrated. T h e differential diag

(2) D isorganized d ev elo p m en t o f cartilaginous and fibrous co m p o n en ts o f the skele

T h e re are fo u r clinical subtypes. In type I, w h ich is an autosom al d o m in an t c o n d i