Obstetrical Ultrasound

Constance D. Lehman, MD, PhD David

#{149} A. Nyberg, MD #{149}
Thomas C. Winter III, MD
Raj P. Kapur, MD, PhD #{149}
Robert G. Resta, MS #{149}
David A. Luthy, MD

Trisomy 13 Syndrome: Prenatal US

Findings in a Review of33 Cases’

PURPOSE:
and prevalence
To determine
of prenatal
the type
ultra-
I MPROVED prenatal detection of ma- Fetuses
weeks were
examined
excluded.
before 12 menstrual
Among the 33 fe-
jor chromosomal abnormalities
sound (US) findings in fetuses with has received considerable attention tuses, 18 were examined before 20 men-
trisomy 13. in recent years; most studies have strual weeks, and 15 were examined after
20 menstrual weeks. The mean menstrual
MATERIALS AND METHODS: Pre- emphasized ultrasound (US) findings
age was 20.7 weeks (standard deviation,
natal US findings in 33 consecutive of trisomies 21 and 18 (1,2). Trisomy
5.7 weeks; range, 13.6-32.7 weeks). Cyto-
fetuses with trisomy 13 and in 200 13 (Patau syndrome) is less common genetic analysis showed complete trisomy
karyotypically normal fetuses were (one of every 8,000 pregnancies) but 13 in 29 fetuses and translocation in four
reviewed and compared. more severe, because it is character- fetuses. The four cases of translocation
ized by multiple, severe anomalies included one case each of 46,XY-14,+rob
RESULTS: One or more abnormali-
(3-5). Typical features of the syndrome (13q14q); 46,XX-15,+rob (13q15q) mat;
ties were found in 30 fetuses (91%). include central nervous system (CNS) 46,XX-14,+dic(13;14)(pll;pll); and
Major anomalies detected by means 46XY-13,+rob(13q:13q).
anomalies (notably, holoprosence-
of US included holoprosencephaly phaly), facial and ocular anomalies, Patients were referred to undergo US
(13 [39%J) or other central nervous polydactyly, clubbed or rocker-bottom
for a variety of clinical indications, which
system anomalies (19 [58%]), facial included advanced maternal age (n = 10),
feet, heart defects, renal anomalies, and
anomalies (15 [48%J), and renal (11 abnormalities noted at US examinations
a single umbilical artery. The number performed at another institution (n = 14),
[33%]) and cardiac (16 [48%J) defects. and severity of anomalies is nearly a size and date discrepancy (n = 2), an ab-
Growth retardation was also present always fatal (6,7), although affected normal level of a-fetoprotein (n = 3), vagi-
in 16 (48%). Echogenic chordae ten- infants may occasionally live for weeks nal bleeding (n = 2), and maternal illness
dineae were seen in 10 (30%), which or months and it has been reported (n = 2). The mean maternal age was 30.7
includes seven (39%) of 18 fetuses that there are some long-term survi- years (range, 17-42 years).
examined before 20 menstrual weeks vors (8). In all cases, US images were obtained
(compared with four [2%] of 200 fe- Few prenatal studies have reported
before cytogenetic evaluation. US findings
tuses in the reference group [P < recorded in the original report were re-
US findings of trisomy 13 (9-11), and
.0011). Other findings not generally viewed to determine the prospective US
to our knowledge no previous prena-
associated with trisomy 13 but pres- findings. Retrospective review of the US
tal study has been limited to this con- images was also performed.
ent in this series included a large cis- dition. For this reason, typical prena- A control group was selected to evalu-
terna magna (six [18%J), mild cerebral
tal US findings of trisomy 13 remain ate the normal incidence of various US
ventricular dilatation (three [9%1), findings-notably, findings of echogenic
incompletely characterized. To deter-
nuchal thickening or cystic hygroma chordae tendineae. This reference group
mine the type and relative frequency
(seven [21%J), and a hypoplastic left consisted of 200 consecutive, karyotypi-
of US abnormalities among fetuses
side of the heart (seven [21%J). cally normal fetuses in the second trimes-
with trisomy 13, we reviewed find-
ter (16-20 weeks) prospectively evaluated
CONCLUSION: Prenatal US can help ings for 33 affected fetuses.
during a 2-month period before planned
detect one or more anomalies in most
amniocentesis and genetic testing. Pro-
fetuses with trisomy 13; thus, US find- spective analysis was performed to maxi-
ings can indicate whether karyotype MATERIALS AND METHODS mize the frequency of this finding among
should be tested. normal fetuses. All patients in the refer-
We reviewed the findings for 33 con-
ence group were referred because of ad-
secutive fetuses with proved trisomy 13
Index terms: Chromosomes, abnormalities vanced maternal age or abnormal findings
who had undergone prenatal US at two
Fetus, abnormalities, 856.871. 856.8723, 856.8265, of biochemical screening. The average ma-
institutions between 1987 and 1993. Cyto-
856.8772, 856.8739, 856.8743, 856.87449, 856.8751, ternal age in this group was 34.5 years
genetic, birth, and pathology records were
856.8761, 856.8772 Trisomy
#{149} 13 (range, 17-43 years); the mean menstrual
matched with US records to ensure inclu-
age of the fetus at the time of the US ex-
sion of all fetuses with trisomy 13 that un-
amination was 17.5 weeks (range, 15-20
Radiology 1995; 194:217-222 derwent prenatal US during this period.
weeks).
Detailed autopsy examination was per-
formed in 16 of the 33 fetuses with trisomy
I From the Departments of Radiology (CDL., T.C.W.) and Pathology (R.P.K.), University of Wash-
ington, Seattle; and the Center for Perinatal Studies, Swedish Hospital Medical Center, Seattle, Wash
(DAN., R.C.R., D.A.L.). Received April 26, 1994; revision requestedjune 28; revision received August
8; accepted August 16. Address reprint requests to DAN., Seattle Ultrasound Associates, 1229 Madi-
son St. Ste 1150, Seattle, WA 98104. Abbreviations: CNS = central nervous system,
RSNA, 1995 IUCR = intrauterine growth retardation.

217
13. Observations from visual inspection of
the fetus (without a detailed autopsy) were
Table 1
available in 12 additional fetuses. The five Prenatal US Finding in 33 Fetuses with Trisomy 13 Syndrome
remaining fetuses underwent a destructive Menstrual Age at US Examination
termination procedure, which precluded
correlation of findings. Intrauterine growth 12-20 wk 20-32 wk Total
retardation (IUGR) was defined as an ab- Sonographic Abnormality (7? = 18) (n = 15) (n = 33)
dominal circumference of more than 2
IUGR* 4(22) 12(80) 16(48)
standard deviations below the mean pre- CNS and Cranium
dicted for menstrual age according to the Holoprosencephaly* 4 (22) 9 (60) 13 (39)
standards of Hadlock et al (12). Lateral ventricular dilatation 2 (11) 1 (7) 3(9)
Statistical analysis was performed with Enlarged dsterna magna 2 (11) 3 (20) 5 (15)
the Fisher two-tailed exact test. Microcephaly* 0 (0) 4 (27) 4(12)
Total 7 (39) 12 (80) 19(58)
Face
Cleft lip/palate* 3 (17) 9 (60) 12(36)
RESULTS Cyclopia 2 (11) 0 (0) 2(6)
Hypoplastic face 3 (17) 7 (47) 10(30)
Hypotelorism* 3 (17) 7 (47) 10 (30)
Table 1 summarizes the frequency
Total 6 (33) 10 (67) 16(48)
of US findings according to menstrual Neck/hydrops*
age at the time of detection. IUGR Nuchal thickening/cystic hygroma 6 (33) 1 (7) 7(21)
was exhibited in 16 (48%) of 33 fe- Hydrops/lymphangiectasia 3 (17) 1 (7) 4(12)
Total 6(33) 2(13) 8(24)
tuses, which included 12 (80%) of the
Renal
15 fetuses examined after 20 men- Echogenic kidneys 4 (22) 6 (40) 10 (30)
strual weeks. With the exclusion of Enlarged kidneys* 2 (11) 6 (40) 8(24)
IUGR and abnormal amniotic fluid, Hydronephrosis 2 (11) 2 (13) 4 (12)
one or more abnormalities were found Total 4 (22) 7 (47) 11 (33)
Cardiac defects 8 (44) 8 (53) 16(48)
in 30 (91%) of the 33 fetuses. A mean Extremities*
of 2.5 abnormal organ systems were Polydactyly* 1 (6) 6 (40) 7(21)
seen on US images in each case. Club/rocker bottom feet 2 (11) 1 (7) 3(9)
Five (15%) of the 33 fetuses exhibited Clenched/overlapping digits* 0 (0) 5 (33) 5(15)
Total 3 (17) 8 (53) 11 (33)
polyhydramnios; four of these fetuses
Abdomen
also exhibited IUGR. Four (12%) of Omphalocele 3(17) 2(13) 5(15)
the 33 fetuses exhibited oligohydram- Bladder exstrophy 1 (6) 0 (0) 1 (3)
nios. Six of the nine fetuses with either Echogenic bowel 2 (11) 0 (0) 2(6)
Total 6 (33) 2 (13) 8(24)
polyhydramnios or oligohydramnios
Other
were referred for the initial US exami- Echogenic chordae tendinae*t 7 (39) 3 (20) 10(30)
nation after 20 menstrual weeks be- Single umbilical artery* 1 (6) 7 (47) 8(24)
cause of size and date discrepancies.
Note-Numbers in parentheses are percentages.
One or more CNS anomalies were * Statistically significant difference (P < .05) between frequency of detection before and that after 20
detected by means of US in 19 (58%) menstrual weeks.
t Includes cases of echogenic chordae tendineae found at retrospective evaluation (n = 5).
of 33 fetuses; US findings of CNS
anomalies were confirmed patho-
logically in all nine of these cases in
which an autopsy was performed.
Holoprosencephaly was the most
common specific anomaly: It was de-
tected in 13 (39%) of the 33 fetuses.
Manifestations of holoprosencephaly,
however, were sometimes subtle-
especially when the monoventricle
was not dilated (Fig 1). Obvious yen-
tricular enlargement was present in
only two of 13 affected fetuses with
holoprosencephaly.
An enlarged cisterna magna (range,
10-18 mm in diameter), including a
Dandy-Walker variant, was shown on
US images in five (15%) of the 33 fe-
Figure 1. US images of a fetus with holoprosencephaly. (a) Transabdominal US scan at 22
tuses (Fig 2). Images of two of these menstrual weeks fails to show lateral ventricles with a normal appearance. A = anterior, P =
fetuses also showed holoprosen- posterior. (b) Transvaginal US scan (semicoronal plane) shows diagnostic findings of alobar
cephaly. Autopsy findings indicated holoprosencephaly with monoventricle (V) and fused central thalami (T). Other views also
that another fetus with holoprosen- showed a facial cleft.
cephaly had a Dandy-Walker variant
that was not shown on US images.
Images of three of the fetuses with
enlargement of the cisterna magna magna also showed ventricular dilata- observed in three fetuses (9%)(Fig 3).
also showed agenesis of the cerebellar tion. In each case, the degree of ventricular
vermis (Fig 2). Images of only one fe- Lateral cerebral ventricular dilata- dilatation was mild (10-12 mm at the
tus with enlargement of the cisterna tion without holoprosencephaly was ventricular atrium). Images of one

218 Radiology
#{149} January 1995
 line clefts and four of the seven bilat-
eral clefts. Images of all but two fetuses
with cleft lip and palate also showed
a hypoplastic midface (Fig 4). Images
of the two remaining fetuses with bi-
lateral cleft lip and palate showed a
prominent premaxillary protrusion
(13). Two fetuses with cyclopia were
detected; both also had hypoplastic
midfaces.
CNS and facial anomalies frequently
coexisted. Eight (62%) of the 13 fe-
tuses with holoprosencephaly had a
facial cleft. Conversely, 12 (80%) of
2. 3. the 15 fetuses with proved facial clefts
Figures 2, 3. (2) US image of a fetus with an enlarged cisterna magna and vermian agenesis. also had CNS anomalies: six with ho-
Axial scan of the posterior fossa at 21 menstrual weeks shows an enlarged cisterna magna (10 loprosencephaly, four with an enlarged
mm anteroposteriorly) in association with absence of the cerebellar vermis (arrow). Other vis-
cistema magna or the Dandy-Walker
ible abnormalities of this fetus included a bowel that contained an omphalocele and echogenic
variant, and two with holoprosen-
kidneys. H = cerebellar hemispheres, MB = midbrain. (3) US image of a fetus with mild cere-
bral ventricular dilatation. Transverse scan at 18 menstrual weeks shows borderline dilatation
cephaly and an enlarged cisterna
(10-11 mm) of the lateral cerebral ventricles (V). Bilateral hydronephrosis and hydroureters magma. Of the three remaining fe-
are also shown. Autopsy also revealed arhinencephaly, polydactyly, and nuchal edema. Ch = tuses, one had prominence of the lat-
choroid plexus. eral cerebral ventricles (8-9 mm) with-
out frank dilatation, and another had
dilatation of the lateral ventricles,
which was detected at autopsy but
not on US images.
Cystic hygroma, nuchal edema, or
nuchal thickening was detected in
seven (21%) of the 33 fetuses by means
of US. It was found at autopsy that
one additional fetus had nuchal edema.
Generalized edema or hydrops was
demonstrated by means of US in four
fetuses, which included three that
also had nuchal edema or cystic hy-
groma. Therefore, eight fetuses (24%)
had cystic hygroma, nuchal edema, or
diffuse edema.
Renal abnormalities were detected
in 11 (33%) of the 33 fetuses. Ten fe-
tuses had echogenic kidneys, and
eight of these also had renal enlarge-
ment (Fig 5). Four fetuses had hydro-
nephrosis. Histologic findings mdi-
cated that two fetuses with echogenic
kidneys had renal dysplasia. It was
a. b. found that one additional fetus who
Figure 4. Images of a fetus with a median cleft lip and palate. (a) Coronal US scan of the face
did not demonstrate echogenic kid-
at 20 weeks shows a large midline cleft lip and palate (arrow). A hypoplastic midface is also
neys had hydronephrosis and a ure-
present; note that a normal nose is not apparent. (b) Corresponding pathologic photograph
confirms large midline cleft lip and palate and hypoplastic midface. terocele.
Abdominal wall defects were dem-
onstrated by means of US in six fe-
tuses (18%), which included five with
fetus showed an echogenic chorda phaly with unusual cranial shape was an omphalocele and one with bladder
tendineae and a disproportionate size prospectively recorded in three cases, exstrophy. One additional small om-
of cardiac chambers as the only other which included two with micro- phalocele, containing only bowel,
US findings. cephaly. was identified at autopsy. In total,
Microcephaly was diagnosed by Cleft lip and palate was the most four (67%) of the six omphaloceles
means of US in four fetuses (12%) at common facial anomaly and was pres- contained only bowel, and two (33%)
21, 22, 29, and 31 menstrual weeks. ent in 15 (45%) of the 33 fetuses. of the six contained both bowel and
Four additional cases of microcephaly Twelve (36%) of these 15 anomalies liver.
were observed at autopsy but missed were detected by means of US; three Unusually echogenic bowel was
at US examination. These fetuses had additional anomalies were found at prospectively identified in two fetuses
been examined by means of US at 16, autopsy. Eight fetuses had a large mid- (6%) and was retrospectively noted in
17, 20, and 27 menstrual weeks. Six of line cleft lip and palate (Fig 4), and a third. Echogenic bowel was the only
these eight fetuses with microcephaly seven had a bilateral cleft lip and pal- definite abnormality in one fetus, which
had holoprosencephaly. Brachyce- ate. US depicted all eight of the mid- was examined at 17 menstrual weeks

Volume 194 Number

#{149} 1 Radiology 219
#{149}
and before planned amniocentesis
and genetic testing (which had been
indicated by advanced maternal age).
Additional findings (cleft lip and pos-
sible cardiac defect) were initially sus-
pected by the sonographer in this
case, but these findings could not be
confirmed by the reporting physician.
Bowel of similar echogenicity was
found in 1.5% (three of 200) of the
normal reference group.
One or more abnormalities of the
extremities were shown by means of
US in 11 (33%) of the 33 fetuses. Seven
of these 11 fetuses had polydactyly a. b.
(Fig 6); three, clubbed or rocker-bot- Figure 5. US images of a fetus with echogenic, enlarged kidneys. (a) Transverse view of the
tom feet; and five, persistently clenched abdomen shows enlarged and mildly echogenic kidneys (K). Other abnormalities included
polydactyly, a hypoplastic left side of the heart, holoprosencephaly with facial cleft, and hy-
hands. With the inclusion of autopsy
poplastic face. Sp = spine. (b) Longitudinal view of another fetus shows an enlarged, echo-
findings, a total of 18 (54%) of 33 fe-
genic kidney.
tuses had extremity abnormalities.
Cardiac defects (with the exclusion
of echogenic chordae tendineae) were
detected in 16 fetuses (48%), which
included seven with a hypoplastic left
side of the heart and six with a yen-
tricular septal defect. Of the 16 fetuses
with detailed autopsy examination,
eight (50%) had cardiac abnormalities,
which included one fetus with a yen-
tricular septal defect not detected at
prenatal US. Autopsy findings proved
that one fetus suspected to have a
hypoplastic left side of the heart and
transposition of the great vessels had
a hypoplastic left side of the heart
with a ventricular septal defect and a 6. 7.
common trunk. Figures 6, 7. (6) US image of a fetus with polydactyly. Scan of the hand at 20 weeks shows
Echogenic foci within the region of an extra digit (arrow), which indicates postaxial polydactyly. Other views showed an echo-
the chordae tendineae were detected genic chorda tendineae with a hypoplastic left side of the heart (Fig 7), rocker-bottom feet,
in 10 fetuses (30%). The prospective and microophthalmia. (7) US image shows an echogenic chorda tendineae and a hypoplastic
left side of the heart. Transverse view of the heart at 20 weeks shows a discrete echogenic fo-
US report noted this for five of these
cus (large arrow) within the left ventricle. A hypoplastic left ventricle is also apparent. Note
10, and retrospective review of the US that the left ventricle is smaller than the right ventricle (R) and that the left atrium (LA) is
images indicated this for the other five smaller than the right atrium (RA). Other abnormalities included polydactyly (Fig 6) and
(Fig 7). All 10 fetuses with echogenic rocker-bottom feet.
chordae tendineae were examined
before 23 menstrual weeks. Of the 18
fetuses examined before 20 menstrual
weeks, seven (39%) demonstrated showed a variant of a hypoplastic left studies (Table 2). Dicke and Crane (9)
echogenic chordae tendineae. In con- side of the heart (Fig 7) and extremity reported US abnormalities in five
trast, echogenic chordae tendineae abnormalities. (71%) of seven affected fetuses; Bena-
were demonstrated in only four (2%) In three fetuses, no structural ab- cerraf et al (10) reported abnormalities
of the 200 fetuses in a karyotypically normalities were detected by means in nine of nine affected fetuses. In the
normal reference group examined be- of prenatal US. One of these fetuses, only other large prenatal series that
fore 20 menstrual weeks. Two fetuses examined at 28 menstrual weeks, was we know of, Nicolaides et al (11) re-
with trisomy 13 and an echogenic shown to have only growth delay. The ported abnormalities among all 31
chorda tendineae underwent post- other two remaining fetuses were fetuses with trisomy 13 in that study.
mortem examination of the heart: Ex- both examined before 16 menstrual Their study sample, however, was
amination of both showed calcifica- weeks. At autopsy, one of these fe- selected exclusively from a group of
tion of the papillary muscles. tuses was found to have ulnar devia- fetuses referred because of abnormal
All fetuses with an echogenic ton of the left hand as the only path- US images, which excluded fetuses
chorda tendineae demonstrated one ologic abnormality. who may have appeared normal or
or more other anomalies, although who had only subtle abnormalities.
these other anomalies were subtle in Growth retardation is a prominent
DISCUSSION
two fetuses. US images of one fetus pathologic feature of trisomy 13 and
showed subtle disproportion of the The prevalence of US abnormalities can be detected by means of US in
cardiac chambers and mild cerebral in the present series (91% [30 of 33 approximately half of affected fetuses
ventricular dilatation as the only other fetuses]) is in general agreement with with trisomy 13 (9,11). Not unexpect-
findings. Images of a second fetus data in previous reports of prenatal edly, IUGR is more commonly de-

220 Radiology
#{149} January 1995
 Table 2
Number of Abnormalities in Pren atal and Autop sy Studies f Trisomy 13 Syndrome
Cleft Lip Nuchal Abnormalities
CNS Holopros- and Endema and Renal Cardiac in the
Study IUGR Abnormalities encephaly Palate Hydrops Defects Defects Extremities Omphalocele

Prenatal studies
Nicolaides et al 1992 (11)
(n = 31) 15 (48) 20 (65) 11 (35) 15 (48) 9 (29) 20 (65) 14 (45) 21 (68) 7(23)
Dicke and Crane 1991 (9)
(n = 7) 3 (43) 2 (29) 5 (71) 1 (14) 3 (43) 3 (43) 2(29)
Benacerraf et al 1988 (10)
(n = 9) 0 (0) 7 (78) 7 (78) 5 (56) 1 (11) 2 (22) 3 (33) 0(0)
This study
(n = 31) 16 (48) 19 (58) 13 (39) 12 (36) 8 (24) 11 (33) 16 (48) 11 (33) 5 (15)
Autopsy studies
Fujinaga et al 1990(4)
(n = 10) 4 (40) 5 (50) 1 (10) 9 (90) 5 (50) 7 (70) 2(20)
Moerman et al 1988 (3)
(n = 12) 10 (83) 7 (58) 5 (42) 12 (100) 12 (100) 10 (83) 8(67)

Note.-Numbers in parentheses are percentages.

tected after 20 menstrual weeks than in this series, 9% (three of 33 fetuses), among fetuses with holoprosen-
before 20 menstrual weeks. The com- compares favorably with the preva- cephaly in this series (92% [12 of 13
bination of IUGR and polyhydram- lence in affected fetuses of 10% re- fetuses]) concurs with that reported
nios is distinctly unusual for normal ported by Nicolaides et al (11). by McGahan et al (18), who found
fetuses (14) and is suggestive of an Enlargement of the cisterna magna facial anomalies among 24 (89%) of 27
underlying chromosomal abnormal- may reflect abnormalities of the cer- fetuses with holoprosencephaly.
ity. This combination was exhibited in ebellum, which would include cer- Cystic hygromata, nuchal edema,
four (12%) of the 33 fetuses with tn- ebellar dysgenesis or hypoplasia (16, nuchal thickening, and diffuse edema
somy 13 in this series and has also 17). An enlarged cisterna magna or represent a spectrum of related disor-
been reported in 10 (21%) of 47 fe- Dandy-Walker variant was observed ders. These findings may be associ-
tuses with tnisomy 18 in another se- in five (15%) of 33 fetuses in this series ated with a variety of chromosomal
ries (2). and in 19% of fetuses in the study by abnormalities, which include triso-
Anomalies of the CNS, face, heart, Nicolaides et al (11). In a prior report mies 21, 18, and 13 (1-3). In this study,
extremities, genitourinary system, and of fetuses with enlargement of the one or more of these findings were
anterior abdominal wall are commonly cisterna magna, chromosomal abnor- identified in seven (21%) of the 33
detected in fetuses with trisomy 13 malities were found in 18 (54%) of 33 fetuses in the study and in five (28%)
(Table 1). Many structural anomalies fetuses, which included 12 fetuses of the 18 fetuses examined before 20
were detected more frequently after with trisomy 18 and three with trisomy menstrual weeks. The frequency of
20 menstrual weeks. Nuchal edema, 13 (17). Sonologists should recognize these abnormalities in the present se-
cystic hygroma, echogenic chordae that ventricular dilatation, unlike the ries compares favorably with the fre-
tendineae, and echogenic bowel, classic Dandy-Walker malformation, quency reported by Nicolaides et al
however, were more commonly seen is usually absent in fetuses with en- (11), who reported similar findings
on images obtained before 20 men- largement of the cisterna magna and among 29% of tnisomic 13 fetuses.
strual weeks. chromosomal abnormalities (16,17). Renal abnormalities are frequently
Holoprosencephaly is the most Facial cleft (cleft lip and palate) has present among fetuses with trisomy
well-known CNS anomaly associated been reported to occur in approxi- 13, although they are reported less
with tnisomy 13. The prevalence of mately half of affected fetuses with frequently in prenatal series than in
holoprosencephaly in this series, 39% trisomy 13 (3,4) and was the most autopsy studies (Table 2). Hyper-
(13 of 33 fetuses), is consistent with common facial anomaly in this series. echoic kidneys consistent with renal
findings of autopsy studies (3,4), as All clefts were categorized as either dysplasia were identified in 10 (30%)
well as with findings of other prenatal midline cleft lip and palate or bilateral of the 33 fetuses in this series. In corn-
US series (9-11). Because holoprosen- cleft lip and palate-no case of unilat- panison, Moerman et al (3) observed
cephaly is detected in less than half of eral cleft was present. Midline cleft lip microcystic changes in all 12 fetuses
affected fetuses, sonologists should and palate with hypoplastic midface with trisomy 13 examined at autopsy.
realize that the absence of holopros- has also been referred to as median They also noted a tendency for the
encephaly does not exclude trisomy cleft lip and palate or premaxillary cysts to become more prominent both
13. Also, holoprosencephaly can be agenesis (18). This type of cleft is fre- in number and in diameter with in-
overlooked, especially when the mono- quently associated with tnisomy 13 or creasing gestational age. When en-
ventricle is not dilated (Fig 1). other multiple-anomaly syndromes larged echogenic or cystic kidneys are
Mild dilatation of the lateral cere- (19). demonstrated, it is important to dis-
bral ventricles and enlargement of the Other facial abnormalities that may tinguish trisomy 13 from other condi-
cisterna magna are more subtle CNS be detected include hypotelorism, tions, which include the Meckel-Gru-
abnormalities that may indicate the ethmocephaly, and cyclopia. Facial ben syndrome (20,21). This autosomal
presence of an underlying chromo- anomalies are especially common in recessive disorder shows similar renal
somal abnormality (1,15). The preva- cases of severe CNS anomalies. The findings but, unlike tnisomy 13, has a
lence of cerebral ventricular dilatation frequency of facial abnormalities 25% recurrence risk (4).

Volume 194 Number

#{149} 1 Radiology 221
#{149}
 Unusually echogenic bowel has to have additional anomalies in this fetal growth in trisomic fetuses. J Ultra-
sound Med 1991; 10:433-438.
been observed in association with series, although mild cerebral yen-
10. Benacerraf BR, Miller WA, Frigoletto FDJr.
various chromosomal abnormalities, tricular dilatation and disproportion- Sonographic detection of fetuses with hi-
particularly trisomy 21 (1,22,23). Re- ately sized cardiac chambers were the somies 13 and 18: accuracy and limitations.
gardless of the outcome, echogenic only other findings in one fetus. Am J Obstet Cynecol 1988; 158:404-409.
The presence of echogenic chordae 11. Nicolaides KH, Snijders RJ, Gosden CM,
bowel is usually a transient finding
Berry C, Campbell S. Ultrasonographi-
limited to the second trimester (22). tendineae in combination with other cally detectable markers of fetal chromo-
The frequency of echogenic bowel in characteristic anomalies is often sug- somal abnormalities. Lancet 1992; 340:704-
this series of trisomy 13 (two [6%] of gestive of an underlying chrornosomal 707.
abnormality, especially of trisomy 13. 12. Hadlock FP, Deter RL, Harrist RB, et al.
33 fetuses) is greater than that found
Fetal abdominal circumference as a predic-
in chromosomally normal fetuses (ap- We do not, however, advocate that
tor of menstrual age. AJR 1982; 139:367-
proximately 1 %)(22,23). Echogenic chromosomal analysis be performed 370.
bowel was the only definite abnor- on the basis of findings of an echo- 13. Nyberg DA, Hegge F, Kramer D, Mahony
mality in one affected fetus. genic chorda tendineae alone. It is BS, Kropp R. Premaxillary protrusion:
sonographic clue to bilateral cleft lip and
A variety of extremity abnormal- suggested that further studies of
palate. J Ultrasound Med 1993; 12:331-336.
ities may be associated with tnisorny echogenic chordae tendineae and the 14. Sohaey R, Nyberg DA, Sickler GK, Williams
13, including polydactyly, overlap- possible association with chrorno- MA. Idiopathic polyhydramnios: associa-
ping digits, clubbed feet, and rocker- somal abnormalities be performed. tion with fetal macrosomia. Radiology
1994; 190:393-396.
bottom feet. US, however, is less sen- In summary, a wide variety of US
15. Bromley B, Frigoletto FDJr, Benacerraf BR.
sitive in the detection of many extremity findings may be associated with fetal Mild fetallateral cerebral ventriculomegaly:
abnormalities than it is in the detec- trisomy 13. Typical findings include clinical course and outcome. Am J Obstet
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16. Nyberg DA, Mahony BS, Hegge FN,
Only 54% (n = 7) of 13 fetuses with facial abnormalities, echogenic kid-
Hickok D, Luthy DA, Kapur R. Enlarged
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fetuses with clubbed or rocker-bottom cardiac defects, and extremity abnor- malformation: factors associated with chro-
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17. Thurmond AS, Nelson DW, Lowensohn RI,
Heart defects are present in the ma- tnsomy 13 but present in this series
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