OB M02 Ch2.2 First Tri Anomaly Screening 11w 13.6w

OB Module 1.
5 First Trimester Fetal Screening at 11-13W 6D
First Trimester US Screening for Fetal Anomalies at 11W-13W6D:
• The benefits of 1st trimester ultrasound screening for fetal anomalies are best realized between
11 to 13 weeks 6 days of gestation.
• It is now routine in the North America to perform an obstetric sonogram between 11 and 13+6
weeks of pregnancy for “First trimester screening for fetal anomalies”.
• Visualization of normal anatomical structures is easier after the process of embryonic
development is more complete, allowing the identification of anomalies that are usually not visible
at an earlier stage. For example:
a) Cranial vault is not completely ossified before 11 weeks, which reduces the accuracy of 1 st
trimester diagnosis of acrania-anencephaly sequence before 11 weeks.
b) Physiologic herniation of mid-gut continues to 11 weeks making the diagnosis of an
Omphalocele difficult prior to this time.
c) The effectiveness of 1st trimester “ultrasound soft markers” prior to 11 weeks is also
reduced. For example:
- NT measurement must be taken between 11 to 13+6 weeks (CRL 45-84mm).
- Nasal bone is normally not ossified prior to 11 weeks.
- 50% of normal fetuses will show incompetent Tricuspid Valve at 10 weeks.
d) Effectiveness of NT as a marker of chromosomal anomaly diminishes beyond 13+6 weeks.
e) Estimation of CRL becomes inaccurate beyond this age and more difficult due to fetal lie.
Elements of 1st trimester anomaly screening:
• The development of screening protocol has a number of essential components:
1) Ultrasound screening for “Soft-markers”.

2) Biochemical serum markers (Maternal Serum Screening-MSS).
3) Non Invasive Pregnancy Test (NIPT) – Cell-free DNA.
4) Doppler evaluation of Fetal DV & Tricuspid inflow & maternal uterine arteries.
5) Invasive genetic tests (CVS/amniocentesis) and Karyotyping.
• First an ultrasound marker and/or a maternal serum marker needs to be identified.
• A marker for aneuploidy or chromosomal abnormality is defined as an observation that has a

different prevalence in euploid (normal) and aneuploidy populations.
• Each marker has a specific mathematical value known as “Likelihood Ratio”, which is based on
the ratio of prevalence of the observation in the two populations.
• For any individual, the absolute risk of having aneuploidy is then calculated by multiplying the
background risk of the disease by this likelihood ratio.
Lecture Notes on Obstetrical Sonography I Shristy Institute I Dr. Mohammad Akhter Hossain I 1|Pa g e
OB Module 1.5 First Trimester Fetal Screening at 11-13W 6D
• Ultrasound screening for “Soft-markers” for aneuploidy:
o Fetal ultrasound in first trimester between 11W-13W6D and again in 2nd trimester between 18-
22 weeks gestation is able to identify many structural abnormalities which are associated with a
higher risk of fetal aneuploidy or chromosomal anomalies. These abnormalities are known as
“Sonographic soft markers”.
o The purpose of genetic sonogram in pregnancies at higher risk for fetal aneuploidy is to identify
high risk cases in early pregnancy and to reduce the total number of subsequent invasive
procedures that would have to be performed.
o Fetuses which are negative for genetic sonogram screening (not showing any sonographic soft
markers) are at lower risk whereas fetuses with one or more sonographic markers are at higher
risk of chromosomal abnormalities or aneuploidy.
o However, the type of aneuploidy, gestational age, sex and quality of images and operator
training all significantly affect the detection rate and thus sensitivity.
o Reason for suboptimal image quality includes maternal obesity, abdominal wall scars, and
persistent unfavorable fetal position as well as operator training.
o In first trimester screening, most of the “soft markers” are dependent on gestational age.
Hence, it is critical to establish the gestational age as accurately as possible. LMP is not
always reliable, moreover many women failed to recall it.
o CRL is the most reliable method for determining gestational age. It is important to ensure
quality assurance of CRL measurement to standardized measurement of NT.
o CRL must be between 45-84 mm, corresponds to 11W to 13W 6 days of gestational age.
• Maternal Serum Screening (MSS):
o MSS can be done by several biochemical markers. These are:
1. First Trimester MSS between 11-13+6 weeks:

a) β-hCG
b) PAPP-A
2. 2nd Trimester MSS between 15-16 weeks:
a) Triple test - β-hCG, AFP, Estriol
b) Quad test - β-hCG, AFP, Estriol and Inhibin-A.
• Non-Invasive Pregnancy Test – Cell-free DNA:

o Cell-free DNA can be done at or above 11 weeks from mother’s blood, hence also known as
non-invasive pregnancy test.
o It is considered most sensitive non-invasive test to identify aneuploidy at an earliest.
o Accuracy has been reported as high as 99%, especially in the detection of trisomy and sex
chromosome anomalies.
• Invasive Genetic tests or Karyotyping:
o The definitive prenatal diagnosis of chromosome abnormalities can be done by analysis of fetal
chromosome known as karyotyping.
o However, it can be obtained only by invasive technique and also too expensive to offer to all
women such as –
a. Chorionic villous sampling (CVS) - only CVS can be done in late first trimester.
b. Amniocentesis (Amniotic fluid sampling) – timing to obtain AF is 16-20 weeks.
c. Cordocentesis (Percutaneous umbilical cord sampling).
• Ultrasound Soft-markers for Chromosomal abnormality:
1. Nuchal Translucency (NT) :

o It refers to the subcutaneous fluid-filled space between the back of the fetal neck and the
overlying skin. This sonolucent area can be seen in all fetuses between 11-13+6 weeks of
gestation, corresponding CRL 45mm-84mm.
o As NT thickness increases, there is an increasing chance of chromosomal or structural
abnormality or a genetic syndrome.
o The mechanism of development of thickened NT varies depending on underlying cause. In DS,
abnormalities of connective tissue and lymphatic system along with cardiovascular defects are
commonly seen.
o To obtain accurate measurement of NT, it is absolutely essential to ensure optimal technique.
o The standardized criteria for measuring NT described by Fetal Medicine Foundation (FMF) are
as follows:
▪ CRL: 45-84mm (11+0 to 13+6 weeks of gestation).

▪ Mid sagittal view, ideally with the spine down & face towards the probe, may be prone.
▪ Landmarks of the profile: skin over the nasal bridge & the nasal tip.
▪ Intracranial structures: thalamus, pons, medulla oblongata seen.
▪ Image size: head & upper thorax occupies most of the screen
▪ Neutral fetal position – avoid head extension or flexion.
▪ Skin line needs to be seen separately from the amnion.
▪ Nuchal cord (5%): measure NT above and below the cord and average.
▪ On-to-On caliper placement (use the ┼ sign, do not use * sign).
▪ Motivated/NT Certified Sonographer.
o Interpretation:
o Upper limit of Normal NT is up to 3mm (99th percentile), however it relates with gestational age
or CRL. For accurate interpretation, one should use NT calculator (Ref: FMF).
o Measured correctly, NT is arguably the most robust single marker for aneuploidy.
o It is considered “Foundation stone” for any first trimester screening protocol.
o It is the single most powerful sonographic soft-marker for general population screening
for Down syndrome (DS) or Trisomy 21.
o Using a standardized technique, the overall DS detection rate was found at 77% and a 5%
false positive rate. DS detection rates using combined serum markers – a) Elevated level of
free HCG, b) Low level of PAPP-A and c) Thickened NT is 82-87%.
o Besides DS, it may be associated other aneuploidy (T18, T13, Monosomy X and Triploidy)
and/or other major structural problems and adverse pregnancy outcome, even if the fetus is
chromosomally normal and no fetal abnormality could be detected.
o Prevalence of chromosomal defects and other major abnormalities increases exponentially with
increasing NT thickness beyond 99th percentile (3mm).
o One of the most important areas where NT screening offers an advantage is the prenatal
diagnosis of Cardiac defects. Prevalence of major cardiac defect is 1-2% in fetuses with NT
less than 3.5mm.
o A significant increase in prevalence seen with NT >3.5 = 3% (3.5-4.5mm), 7% (4.5-5.4mm),
20% (5.4-6.4mm), and 30% (≥6.5mm).
o There are a number of other type of abnormalities seen with NT >3.5mm. These includes:
CDH, Omphalocele, Body stalk anomaly, Skeletal defects, Congenital adrenal hyperplasia,
Noonan syndrome, Smith-Lemli-Opitz syndrome and Spinal muscular atrophy.
Satisfactory NT study.
The forehead (curved arrow),

nose bone (small arrow), and chin
(large arrow) are seen.
Diencephalon is visible (*).

NT is being measured at the
widest point (markers).
CMa, cisterna magna;

NT, nuchal translucency
Nuchal translucency measurement that meets Fetal Medicine Foundation criteria. The correct
caliper placement is “on-toon” (Abbreviations: T, thalamus; MO, medulla oblongata; P, pons)
2. Nasal Bone:
o Normal NB develops at around 11 weeks and appears in US as a short linear echogenic

structure in the region of fetal face in the face-profile view.
o Absence of NB is highly associated with Down syndrome (trisomy 21) in both the first and
second trimester.
o In first trimester, the nasal bridge is evaluated only for the presence or absence of the NB.
o In 2nd trimester, hypoplastic NB is also considered as soft marker. A BPD/NB ratio >12 provides
good sensitivity and specificity for the detection of aneuploidy in 2 nd trimester.
o Absence of the nasal bone occurs in 2.5% of normal fetuses.
o An absent NB is associated with the highest predictive value and positive likelihood ratio for
aneuploidy, especially DS (T-21) with a predictive sensitivity of 85% and 1% false positive rate.
o Prevalence of other chromosomal anomaly with absent NB are: Trisomy 18 (55%), Trisomy 13
(34%) and monosomy X (11%) but not in triploidy.
o The FMF criteria for evaluating NB is as follows:
The Fetal Medicine Foundation Criteria for evaluation of the Nasal Bone
▪ CRL: 45–84 mm (11+0 to 13+6 weeks of gestation)
▪ Mid sagittal view (fetus must be facing towards the transducer)
▪ Image size—head and upper thorax occupies most of the screen
▪ The face of the transducer is parallel to the long axis of the nasal bone and the skin
over the nasal bridge
▪ Fetal profile must include an echogenic line representing the skin over nasal bridge and
an echogenic line in front of it representing the skin over the nasal tip
▪ Intracranial structures—hypoechoic areas representing the region of the thalamus,
pons, and the medulla oblongata
▪ If the nasal bone is present, a line that is more echogenic than the skin is seen within
the nasal bridge. This line is approximately parallel to the skin over the nasal bridge; the
two lines form the so called “equal sign”
Image A and B: Nasal bone evaluation that meets Fetal Medicine Foundation criteria:
(solid arrows = skin over the nasal bridge and the tip of the nose, open arrow = nasal bone)
(A) The nasal bone is present (note the “equal sign” formed by the echogenic lines of the skin
of the nasal bridge and the nasal bone; (B) The nasal bone is absent (note the absence of the
“equal sign”) (Abbreviations: T, thalamus; MO, medulla oblongata; P, pons)
3. Frontomaxillary Facial Angle (FMF angle):
o Flat faces are recognized as a common dysmorphic feature in Down syndrome (T21).
o Frontomaxillary facial angle measurement estimates mid-face hypoplasia.
o The deeper the location of the front edge of the maxilla is with respect to the forehead, the
shallower the FMF angle.
o The reason for mid-face hypoplasia in trisomy 21 appears to be the presence of abnormal
connective tissue.
o Besides DS, Shallow FMF angle can also occur in T18 and T13.
o Image requirement for measuring FMF angle is similar to that of NB evaluation.
o To measure the FMF angle, the following lines are generated:

a) The first line runs along the upper edge of the hard palate. The vertex of the angle is at
the anterior-most portion of the maxilla.
b) The second line of the angle runs upwards from the vertex towards the forehead.
o FMF criteria for measurement of FMF angle:

The Fetal Medicine Foundation Criteria for measurement of FMF anngle
▪ CRL: 45—84 mm (11+0 to 13+6 weeks of gestation)
▪ Mid sagittal view (fetus must be facing towards the transducer)
▪ Image size—head and upper thorax occupies most of the screen
▪ Face of the transducer is approximately parallel to the long axis of the nasal bone
▪ Fetal profile must include an echogenic line representing the skin over nasal bridge and an
echogenic line in front of it representing the skin over the nasal tip
▪ Intracranial structures—hypoechoic areas representing region of the thalamus, pons, and medulla
oblongata
▪ Space between upper palate and nose should be devoid of echogenic structures (frontal process of
maxilla)
▪ FMF angle— first ray is drawn along the upper edge of the hard palate, apex of the angle is at the
anterior edge of the maxilla, second ray from the apex upwards resting on the echogenic line
beneath the skin (the non-calcified metopic suture)
Image A and B: Frontomaxillary angle measurement that meets FMF criteria. Note the absence of the
frontal process of the maxilla between the hard palate and the nasal bone, which helps to assure that plane
of insonation is precisely in the midline. (A) The frontomaxillary angle is acute and within normal limits;
(B) The frontomaxillary angle is obtuse and is above the normal range.
(Abbreviations: T, thalamus; MO, medulla oblongata; P, pons)
4. Doppler evaluation of Ductus Venosus and fetal aneuploidy:

o DV carries 60% of oxygenated blood from placenta directly in to the right atrium via IVC.
o On PW Doppler, normal DV waveform demonstrates forward blood flow throughout the
cardiac cycle. There are two adjoining peaks of increased flow (S & D wave) representing
ventricular systole and diastole. Normally blood flow is diminished during atrial systole (a-
wave) but still forward flow is maintained.
o In fetal aneuploidy - a reversed a-wave is seen in fetuses affected by trisomy 21 (DS). It
can also be seen with T18, T13, and monosomy X.
o The prevalence of reversed a-wave in DV in fetuses with Trisomy 21 (66%), Trisomy 18
(58%), Trisomy 13 (55%), and in monosomy X (75%). Prevalence of reversed a-wave in
normal fetuses is 3%.
o Prevalence of reversed a-wave decreases with advancing gestational age and increases with
increased NT thickness.
o The a-wave abnormality is likely to be the result of decreased compliance of the ventricular
walls rather than ventricular dilatation. The atrial wall is contracting against a relative stiffer
wall and has to generate more pressure to push the blood across the tricuspid valve (TCV).
This increased back pressure is responsible for stopping or the reversing the blood flow
during atrial systole producing absent or reversed a-wave in Doppler waveform.
o In current FMF criteria, only the reverse a-wave of DV is considered abnormal.
o The a-wave abnormalities are also associated with fetal cardiac anomalies.
o FMF criteria for evaluation of DV flow using PW Doppler:
The Fetal Medicine Foundation Criteria for evaluation of DV flow using Doppler
▪ Right ventral mid sagittal view (right parasagittal section)
▪ Image size—thorax and abdomen occupy most of the screen
▪ Color flow Doppler is used to identify the hepatic portion of the umbilical vein and the ductus
venosus, which appears as a continuation of the umbilical vein. Since the flow velocity in the DV is
significantly higher than in the rest of the venous system, aliasing will be seen on color Doppler
▪ Pulsed-wave Doppler—angle of insonation with respect to the longitudinal axis of the DV must be
must be <30 degree and the sample gate must be small ((0.5-1mm)
▪ The filter should be set at a low frequency (50-70Hz) so that the a-wave is not obscured.
▪ The sweep speed should be high (2-3cm/sec): the spreading of the waveforms allows better
assessment of the a-wave.
Image A and B: Evaluation of the ductus venosus flow using Doppler;

(A) Normal DV flow pattern with antegrade flow during the entire cardiac cycle (during ventricular systole and
diastole), and including during the atrial contraction (a-wave);
(B) Abnormal DV flow pattern with reversed flow during the atrial contraction (a-wave). (Abbreviations: UV,
hepatic portion of the umbilical vein; DV ductus venosus)
5. Doppler evaluation of blood flow across Tricuspid valve (TCV):
o In the first trimester, abnormalities of cardiac structure and/or performance may lead to
detectable changes in blood flow through certain structures. The two structures that have
been investigated the most and if found abnormal, can be used as marker for screening
aneuploidy in first trimester are tricuspid valve (TCV) and ductus venosus (DV).
o Normal TCV Doppler waveform demonstrates a biphasic pattern of blood flow into the right
ventricle.
a) The first peak represents early filling during ventricular diastole (E-wave).
b) The second peak represents filling in atrial systole (A wave).
o If the TCV is competent, there should be no flow during ventricular systole.
o TCV is considered abnormal in the presence of regurgitation (TR).

o The velocity in the regurgitant jet must be more than 60cm/s.
o Tricuspid regurgitation is more prevalent in aneuploidy fetus and with Trisomy 21 (56%),
trisomy 18 (33%), trisomy 13 (30%) and monosomy X is 38%.
o TR is also associated with an increased of congenital heart defects.
o Prevalence of TR decreases with advancing age and increases with NT thickness.
o The prevalence of TR in normal fetus is 1%.
o In trisomy 21, abnormal connective tissue with decreased number of myocytes, and/or
abnormal orientation of myocytes and myofibrils, results in a relative dilatation of the right
ventricle, which leads to TR by dilating the TCV annulus. In addition, the connective tissue
abnormalities may affect the valve itself. Both of these mechanisms are involved in causing
the TCV incompetent and regurgitation.
o FMF criteria for the evaluation of flow across the TCV using Doppler:
The FMF criteria for the evaluation of flow across the TCV using Doppler
▪ Apical four-chamber heart view (fetus may be facing towards or away from the transducer)
▪ Image size—thorax occupies most of the screen
▪ Pulsed-wave Doppler—the sample gate should be large (2–3 mm in width) and is positioned across the tricuspid
valve, the angle formed by the ventricular septum and Doppler beam must be <30 ⁰
▪ True tricuspid regurgitation (R) – (1) velocity more than 60cm/sec (in order to differentiate from a great vessel
waveform where the velocity is generally 50 cm/sec). (2) duration >30% of the ventricular systole (VS)
▪ At least three sample volumes need to be obtained as the insufficiency may not be present in all three cusps
Image A and B: Evaluation of the - flow across the tricuspid valve (TCV) using Doppler:
(A) Normal flow pattern across the TCV with no regurgitant flow during ventricular systole (VS); (B)
Abnormal flow pattern across the TCV with regurgitant flow (R) present during VS
• Other structural abnormalities as markers of aneuploidy:
▪ Some structural anomalies seen on first trimester ultrasound also increase the risk of
aneuploidy. Among these structural anomalies some serve as dual role.
▪ Some anomalies serve as marker for chromosomal abnormality and they are also
of clinical significance even in absence of aneuploidy. These include:
a) Holoprosencephaly – risk of 1 in 2 for T13,

b) CDH – risk for 1 in 2 for T21,
c) ASD – risk of 1 in 2 for T21,
d) Omphalocele – risk of 1 in 4 for T18. 1 in 10 for T13.
e) Megacystis, bladder length ≥7mm – risk of 1 in 10 for either T18 or T13.
▪ Some other ultrasound soft markers increase the risk of fetal chromosomal abnormalities
in the second trimester, but also appear to do so in the first trimester. However, in the
absence of chromosomal abnormality, these markers have no clinical significance.
These include:
a) Choroid plexus cyst (>1.5cm) – risk of T18

b) Echogenic intracardiac foci – risk of T21
c) Echogenic bowel – risk of T21 or cystic fibrosis
d) Hydronephrosis (AP diameter of renal pelvis in ist trimester >1.5mm) – risk of T21
▪ The presence of these markers should be interpreted in the context of the presence or
absence of other markers or anomalies.
• Structural defects with/without Chromosomal defects at 11-13+6 weeks:
• CNS defect:
▪ Acrania-Anencephaly:
▪ Birth prevalence 1 in 1000

▪ 2nd most common CNS anomaly,
▪ it is considered non-chromosomal structural defect
▪ It is most common open Neural Tube Defect (ONTD).
▪ Acrania is defined as absence of cranial vault with a variable amount of disorganized

brain tissue or even normal brain.
▪ With advancing gestational age, acrania is associated with progressive degeneration of
fetal brain such that acrania progresses to anencephaly, known as Acrania-Anencephaly
sequence.
▪ Anencephaly is defined as absence of cranial vault with absence of whole or

upper part of the cerebrum.
▪ It is the most common neural tube anomaly results from failure of the neural tube to
completely close at the cephalic end, which usually occurs between the 2nd and 3rd
weeks of embryonic development.
▪ Prenatal diagnosis can be made earliest in the 1st trimester at 10 weeks gestation, when
the ossification center appears in the skull with good equipment and technique.
▪ Although the cranium is absent with anencephaly and acrania, the base of the skull and
orbits are normally presents.
▪ About 50% also may have extensive spina bifida.
▪ Polyhydramnios is common due to decreased ability of fetus to swallow amniotic fluid.
▪ US diagnosis can be made reliably by 12 weeks gestation. Can suspect as early as 10

weeks gestation with good equipment and technique and/or by EVS.
▪ The characteristic sonographic feature of anencephaly or acrania is bulging eyes known

as “Frog face” or “Eyeglass” sign.
▪ Absence of cranial vault, failure to identify normal cranial morphology and brain tissue
above the orbits is the most reliable sonographic feature of anencephaly.
▪ Measurement of CRL is difficult and if taken will always below normal or small-for-dates.
▪ A common feature of anencephaly is increased Polyhydramnios.
▪ Another frequent indirect feature of acrania-anencephaly sequence is echogenic

amniotic fluid in the first trimester (Normally at this stage, amniotic fluid remains clear
anechoic in normal gain setting (due to exfoliated neural tissue, debris, RBC’s from
traumatized exposed fetal brain.
▪ Holoprosencephaly:
▪ It is a rare defect with birth prevalence 1 in 5000

▪ It’s a severe defect, covers a spectrum of conditions where there is a defect in the
division of the prosencephalon, the frontal part of the brain.
▪
▪ There are three types – Alobar, Semilobar and Lobar.
▪ In Alobar type, there is complete fusion of the ventricles with presence of a large horse-
shoe shaped single ventricle and fused thalami, with absent CSP, third ventricle in the
midline with a thin mantle of cerebrum.
▪ In Semilobar type, the lateral ventricles and thalami are partially separated and
▪ In Lobar type, the lateral ventricles and thalami are divided but the CSP is absent.
▪ Holoprosencephaly is strongly associated with trisomy 13 and also T18 and other
structural defect such as frontal anomalies (hypotelorism, hypertelorism, cyclopia,
proboscis, cleft lip and cleft palate).
▪ Earliest diagnosis can be done at 10 weeks based on visualization of single ventricle

and fused thalami.
Lecture Notes on Obstetrical Sonography I Shristy Institute I Dr. Mohammad Akhter Hossain I 10 | P a g e
▪ Spina Bifida at 11-13+6 weeks:
▪ Spina bifida is due to failure of closure of neural tube (NTD), normally occurs at 6 th week,
whereas the ossification of the spine begins at 10 weeks.
▪ The hall marks of the diagnosis of spina bifida in the second trimester are –
a) Lemon sign head – scalloping of the frontal bones of the skull

b) Banana sign cerebellum with displacement of the cerebellum with obliteration of
cistern magna (Arnold-Chiari malformation).
▪ The above signs may or may not be visible before 12 weeks.
▪ In first trimester between 11-13+6 weeks, absence of the cisterna magna, fourth
ventricle or an intracranial translucency (IT) indicates spina bifida.
▪ Intracranial translucency (IT) represents the fluid filled fourth ventricle which is
located posterior to the pons. It is now considered as early marker for open neural
tube defect (ONTD).
▪ A magnified midline view of the fetal head and upper thorax is obtained (same view for
NT, NB and FMF angle) and the following intracranial structures need to be identified:
a) Hypoechoic regions of the thalamus, the pons and the medulla oblongata.
b) Intracranial translucency represents the fluid filled fourth ventricle, which is located
posterior to the pons. The combination of the posterior border of the pons and the
floor of the 4th ventricle is seen as a thin echogenic line. It is the anterior border of the
IT. Posterior border of the IT is formed by the roof of the 4th ventricle, also seen as a
thin echogenic line accentuated by the choroid plexus of the 4th ventricle.
▪ An absent first trimester intracranial translucency (IT), i.e., the obliterated 4th
ventricle is the marker for spina bifida (ONTD).
▪ The proposed mechanism for this finding is caudal displacement of the brain as in
obliterated cisterna with banana cerebellum and Arnold-Chiari malformation.
▪ 90% of fetuses with ONTD also show Frontomaxillary angle measurement below the 5 th
percentile.
Evaluation of the
intracranial translucency
(double arrow) that meets
Fetal Medicine Foundation
criteria
(Abbreviations: T, thalamus;
MO, medulla oblongata; P,
pons; solid arrows, skin of the
nasal bridge and the tip of the
nose)
US and diagram showing the IT in

a normal fetus.
Midsagittal plane view o the fetal face
showing the nasal bone (NaB),
palate, mandible, nuchal translucency
(NT), thalamus (Thal), midbrain (Mb),
brain stem (Br), and medulla
oblongata (MO).
The fourth ventricle presents as an
IT between the brain stem and the
choroid plexus. The intracranial
translucency is absent if spina bifida
is present. (Image courtesy: Chaoui et al, 2009.)
▪ Choroid plexus cysts (CPC):
▪ CPS’s are relatively common in first trimester.

▪ Choroid plexus can be visualized as early as 8 weeks of gestation.
▪ Size of the majority of CPC’s is 1-2mm.
▪ CPCs are significantly associated with chromosomal anomaly trisomy 18.
▪ The rest are physiological, usually regresses by 24-28th weeks of gestation.
▪ Ventriculomegaly (VM):
▪ Most common CNS anomaly.

▪ Ventriculomegaly is defined as a cerebral atrial diameter of more than 10mmm (diameter
of occipital or posterior horn of lateral ventricle) in transverse plane.
▪ Normal measurement at any time of gestation: <10 mm (mean 6mm).
▪ Mild ventriculomegaly: 10-12mm.
▪ Moderate ventriculomegaly: 12-15mm.
▪ Severe ventriculomegaly: >15mm.
▪ Mild to moderate ventriculomegaly may be due to isolated condition and normal variants.
However, an isolated mild ventriculomegaly, the risk of chromosomal abnormality has
been reported to be about 2-3%.
▪ Down syndrome (T21) is the most common chromosomal abnormality associated with
mild ventriculomegaly.
▪ Associated major cranial and extra-cranial anomalies can be present in 50% of fetuses
with VM, of which the most common are agenesis of corpus callosum, posterior fossa
malformation and open spina bifida.
▪ Cystic Hygroma (NCH):
▪ Fetal cystic nuchal hygroma is congenital malformation of the lymphatic system.

▪ It is seen as an area of sonolucency in the soft tissue of the occipital region and/or as
cystic mass, unilateral or bilateral, with or without internal trabeculae (septa), lateral to
the fetal neck.
▪ Cystic hygroma has high association with chromosomal abnormality such as Turner’s
syndrome (most common).
▪ T21, T18 and Klinefelter’s syndrome has also been reported.

▪ The volume of the hygroma and presence of septa are associated with higher risk of
chromosomal abnormalities.
▪ Heart defects in first trimester at 11-13+6 weeks:
▪ Congenital heart defects are amongst the most common structural defects.
▪ Birth prevalence is 5-10 per 1000 births.
▪ Visualization of cardiac anatomy at this gestational period requires more expertise from
specialists in fetal echocardiography and mainly limited to high risk pregnancy defined by
family history, maternal disease (DM, epilepsy), or increased Nuchal Translucency.
▪ There is strong association of increased NT with cardiac defects.
▪ Abnormal reversed a-wave in DV and regurgitant TCV flow on Doppler are also
strongly associated with cardiac anomaly.
▪ Bradycardia and conduction defects can be identified from M-mode.
▪ Ectopia cordis, dextrocardia, monoventricular heart, ASD, VSD and common truncus
arteriosus can be seen in first trimester.
▪ Abdominal wall defects:
▪ Omphalocele (Exomphalos):
▪ Birth prevalence 1 in 4000 births.

▪ Omphalocele is a ventral wall defect characterized by herniation of bowel loops and/or
intrabdominal organs (liver, spleen) into the base of umbilical cord, with a peritoneal
covering (amnioperitoneal membrane).
▪ Herniation of midgut is physiological and occurs between 8-10 weeks. Diagnosis of
Omphalocele is made if the bowel fails to return into the abdominal cavity by 11 weeks
or if the other viscera are herniated at any time of gestation.
▪ It is strongly associated with chromosomal abnormalities and syndromes (38-58%), and
usually trisomy 18 is present in about half of the fetuses with Omphalocele in the first
trimester. (1/3rd in the 2nd trimester and 15% at birth).
▪ Omphalocele may be a part of an extended abdominal wall development.
▪ If the abnormality involves the cephalad fold, it results in Pentalogy of Cantrell (consists
of Omphalocele, ectopia cordis, cardiac defects, CDH, sternal cleft).
▪ If it involves the caudal fold, it results in bladder or cloacal exstrophy, bowel atresia and
vertebral defects.
▪ Gastroschisis:
▪ Birth prevalence 1 in 4000

▪ In Gastroschisis, there is a small defect in the abdominal wall laterally and usually on the
right of the umbilical cord insertion, through which herniation of bowel loops occurs.
▪ It is rarely seen in first trimester.
▪ Prenatal diagnosis is based on visualization of free floating bowel loops in the amniotic
fluid (right paramedian and not covered by peritoneum).
▪ It is usually non-chromosomal (rarely associated with aneuploidy).
▪ Umbilical Cord/SUA:
▪ Umbilical cord diameter can be measured during first trimester at 10-14 weeks.
▪ An increased diameter of the umbilical cord measured near the abdominal insertion
above the 95th percentile of reference value (more than 7mm) is considered suspicious
of Omphalocele.
▪ Single Umbilical artery (SUA/two vessel cord): the presence of single umbilical
artery or two vessel cord (one artery and one vein) may also be a marker for
chromosomal abnormality, usually trisomy 18.
▪ Defects of the Urinary System:
▪ The urinary bladder can be visualized at CRL of 67 mm.

▪ Dilatation of the urinary bladder in first trimester may occur in association with posterior
urethral valve, urethral atresia, severe renal abnormalities and prune belly syndrome,
▪ Megacystis:
▪ Megacystis at the first trimester is defined as enlargement of the bladder with

longitudinal diameter larger than 6mm.
▪ Fetuses with mild to moderate megacystis (bladder diameter 7 to 15mm), 25% are at risk
of chromosomal abnormality, and fetuses with severe megacystis (>15mm) 10% are at
risk of aneuploidy at 10-14 weeks of gestation.
▪ There is risk of progression of obstructive uropathy and or echogenic kidneys in
10% of mild-moderate cases of megacystis and in almost all cases of severe megacystis
even if chromosomally normal.
▪ Meckel-Gruber syndrome:
▪ Birth prevalence 1 in 10,000.

▪ Meckel-Gruber syndrome is a lethal, autosomal recessive condition with variable
phenotypic expression.
▪ Ultrasound diagnosis of Meckel-Gruber syndrome is based on demonstrating typical
features of –
a) Encephalocele, usually occipital,
b) Enlarged, dysplastic echogenic kidneys and
c) Polydactyly.
▪ Hydronephrosis - Fetal pyelectasis:
▪ Fetal kidney and bladder can be well seen by 12th weeks of gestation.
▪ Fetal pyelectasis is unilateral or bilateral dilatation of renal pelvis.
▪ Normal antero-posterior diameter of renal pelvis at the end of first trimester is at its
higher level 3mm. (Up to <20 weeks of gestation is up to 4mm).
▪ Presence of pyelectasis increases the risk of aneuploidy by about 1.5 to 2 times.
▪ Incidence of mild pyelectasis among fetuses with DS (T21) is 17-25%.
• Skeletal defects in first trimester:
▪ Skeletal defects in first trimester are usually rare. These includes:
a) Short femur
b) Caudal regression syndrome (Sirenomelia)
c) Body stalk anomaly
d) Skeletal dysplasias – achondrogenesis, hypophosphatasia, osteogenesis imperfecta type
II, and Robert’s syndrome, short-rib Polydactyly.
▪ Short Femur:
▪ Short femur is a soft marker for chromosomal abnormality.

▪ A thorough search for associated markers of aneuploidy should be undertaken.
▪ Only short proximal long bones (femur and humerus are short) are common in DS(T21)
▪ Caudal Regression Syndrome (Sirenomelia):
▪ Birth prevalence 1 in 500,000.

▪ It is a rare defect involving vertebral abnormalities varying from partial sacral agenesis to
complete absence of the lumbosacral part of the spine.
▪ Sirenomelia in its extreme form may present with hypoplasia and fusion of lower limbs of
variable degrees, and is associated with genitourinary, gastrointestinal and CNS defects.
▪ The incidence of Sirenomelia is high in poorly controlled diabetic mothers.
▪ Features of the caudal regression syndrome that are identifiable in first trimester are:
a) CRL shorter than expected for the gestation,
b) Inability to visualize the lower limbs independently,
c) Abnormal movements of the lower limbs,
d) Intra-abdominal cyst,
e) Partial or complete agenesis of sacrum or lumbosacral part of the spine,
f) Increased Nuchal Translucency (NT).
▪ Achondrogenesis Type II:
▪ Birth prevalence 1 in 40,000

▪ It is a lethal autosomal recessive skeletal dysplasia, presents with –
a) Micromelia - severe shortening of limbs,
b) Thoracic dystrophy - narrow thorax,
c) Bowing of long bones
d) Hypomineralization of vertebral bodies but normal mineralization of skull
(In Type I – hypomineralization of skull and rib fractures)
e) Fetal hydrops
f) Increased NT
▪ Osteogenesis Imperfecta Type II:
▪ Birth prevalence 1 in 60,000

▪ Lethal type of skeletal dysplasia, usually seen in 2nd trimester,
▪ Rarely can be visualized in firth trimester and presents with-
a) Hypomineralization of skull bones
b) Bowed and shortening of all long bones and ribs with multiple fractures,
c) Increased NT.
▪ Robert’s syndrome:
▪ Robert’s syndrome is a rare autosomal recessive condition with

▪ Symmetrical limb defects of variable severity – Tetraphocomelia
▪ Facial cleft
▪ Hypertelorism
▪ Microcephaly
▪ Growth retardation.
▪ Short-Rib Polydactyly syndrome:
▪ Rare autosomal recessive, lethal skeletal dysplasia. Presents with-

a) Short limbs
b) Narrow thorax
c) Polydactyly
d) Increased NT.
▪ First Trimester Screening for Preeclampsia at 11-13+6 weeks:
▪ Preeclampsia is associated with vascular problems within the placental bed.

▪ Even though the diagnosis of preeclampsia is not made until 2nd half of the pregnancy,
maldevelopment of placental bed vessels occurs well before that time.
▪ Normally vascular resistance to the placenta and placental bed decreases as the
pregnancy progresses. This process is inhibited in patients who are destined to develop
preeclampsia showing increasing vascular resistance.
▪ Different degree of severity of placental insufficiency appears to be associated with
various pregnancy associated hypertensive disorders including early-onset
preeclampsia.
▪ The impedance of the maternal blood supply to the placental bed can be estimated
by measuring the pulsatility index (PI) of the uterine arteries using Doppler.
▪ The risk of developing preeclampsia increases with the uterine artery PI.
▪ FMF criteria for evaluation of Uterine artery blood flow using Doppler:
a) Location of the uterine artery – just lateral to the cervix at the level of the endocervix,
this can be obtained with a sagittal view of the cervix, moving the probe side-to-side
with color Doppler.
b) PI is measured with PW Doppler with-

Sample gate of 2mm.
Angle of insonation <30⁰,
Direction of flow towards the transducer (towards the uterine fundus), and
PSV must be >60cm/s
(Less PSV indicates branch of UA, not the main uterine artery).
c) At least three measurements should be taken from each uterine artery.
d) The lowest PI is used for risk assessment.
▪ Based on a recent publication, it appears that, the most efficient method of screening for
preeclampsia in the first trimester is based on the following parameters:
1. Maternal history
2. Uterine artery PI – increased PI increases the risk of preeclampsia,
3. Mean arterial pressure – increased MAP increases the risk of preeclampsia,
4. PAPP-A – decreased PAPP-A increases the risk of preeclampsia,
5. Placental growth factor (PIGF) – decreased PIGF increases the risk of preeclampsia.
▪ Conclusion:
▪ Advances in the screening capabilities of the first trimester scan have lead to an increasing
and improved detection of fetal structural and/or chromosomal anomalies in early pregnancy
and thus helps in early decision making about the prognosis and management.
▪ As the utility of ultrasound is expanding, our responsibility to perform a quality ultrasound
examination also increasing.
▪ This can be achieved with continuous training and retraining and rigorous quality assurance
program.
▪ For a complete survey of fetal anatomy at 11-13+6 weeks, the examination protocol is
summarized below:
• A complete survey of fetal anatomy at 11-13+6 weeks:
▪ A complete survey of fetal anatomy should be performed at 11-13+6 weeks for presence
or absence of structural and/or chromosomal abnormalities.
▪ It can be performed preferably by means of the vaginal probe with a pregnancy that is
less than 14 weeks; this is particularly helpful in obese patients.
▪ The examination of fetal anatomy at 11-13+6 weeks can be done using the following
protocol:
1. Fetal skull & brain:
a) Examination of the completeness of the skull

b) Skull shape
c) Skull bone density
d) Presence of midline echo or falx cerebri in the brain
e) Lateral ventricles and their size

f) Butterfly shape of the choroid plexus
g) Intracranial translucency (IT)
2. Face/Nose/Neck:
a) Examination of the facial profile, Nasal bone, FMF angle

b) Orbits, lenses
c) Nuchal translucency (NT)
3. Spine:
a) Examination of the alignment of the vertebrae

b) The skin covering the spine
4. Heart :
a) Examination of 4 chamber and 3-vessel view

b) Doppler evaluation of TCV and DV
5. Stomach – presence or absence of stomach bubble in the LUQ
6. Abdominal wall: examination of the umbilical cord insertion into the abdominal wall.
7. Umbilical Cord – cord diameter and look for normal 3 vessel cord or SUA.
8. Kidneys: Visualization of two kidneys lateral to the spine.
9. Bladder: Visualization of the bladder as a anechoic structure in the pelvis.
10. Extremities: Examination of the long bones, fingers, toes, and movements.
• Evaluation during pregnancy for any pelvic structure abnormality:
o During all stages of pregnancy, adnexal evaluation should be a part of obstetrical study. Most
of the adnexal pathologic conditions or pelvic masses can be diagnosed on the basis of
ultrasound appearance alone.
o First trimester ultrasound can quickly determine if a pelvic mass is uterine or extra uterine, and
can characterize as cystic, solid or complex. Sonography is important in diagnosing, monitoring
and determining the malignant potential of any pelvic masses.
o Adnexal evaluation is easier to perform in first trimester and becomes increasingly difficult with
advancing gestational age. In 1st trimester, normal ovaries are better visualized with TVS (95%)
compared with TAS (33.3%).
o Ovaries are difficult to detect with advancing gestational age. In 2nd & 3rd trimester TAS is able
to visualize both ovaries only in 16.4% and either one in 59.7% of patients.
o Common adnexal problems seen in pregnancy are:
1. Corpus Luteum of Pregnancy (CPL) & CL Hemorrhagicum

2. Ovarian neoplasm – most commonly Dermoid cyst
3. Theca lutein cysts
4. Fibroids
5. Pelvic kidney
6. Mullerian anomaly
7. Uterine entrapment syndrome.
o Corpus Luteum of Pregnancy (CLP) & CL Hemorrhagicum:
▪ In 1st trimester, most common ovarian cyst associated with pregnancy is the CLP.
▪ CLP forms after ovulation and increases in size if fertilization occurs.
▪ CLP secretes progesterone and estrogen to support the pregnancy until the placenta can
take this role at about 12 weeks and then it regresses.
▪ In ultrasound CLP appears as a thin walled unilocular simple cyst or a more complex pattern
with low level internal echoes and/or thin septations.
▪ Size of CLP ranges from 1.5 cm -2.5cm with a mean diameter of 1.9 cm.
▪ Often, the CLP may be become considerably larger in size due to excessive internal bleeding
and known as CL Hemorrhagicum, may undergo torsion, rupture and cause sharp lower
abdominal pain.
o Ovarian neoplasm:
▪ Any type of ovarian neoplasm may occur during pregnancy.

▪ The most common ovarian neoplasm seen during pregnancy is dermoid cyst.
▪ Most Dermoid cysts are asymptomatic and found incidentally.
▪ They have wide spectrum of sonographic appearance, the most common Dermoid shows a
complex predominantly cystic mass with hyperechoic areas and strong acoustic shadowing.
▪ Ovarian carcinoma during pregnancy is extremely rare.
o Theca Lutein Cysts (Bilateral):
▪ Usually seen in association with gestational trophoblastic disease (GTD).

▪ In Multiple pregnancies, due to increased placental mass & increased hCG may also cause
development of bilateral theca luteal cysts.
o Ovarian Torsion:
▪ CL Hemorrhagicum or any other ovarian mass may precipitate ovarian torsion during
pregnancy.
▪ Ultrasound shows increased size of the affected ovary, decreased ovarian echogenicity,
unusual position of the ovary, and presence of free fluid in the pelvis.
▪ In CD/PW Doppler, unilateral absence of flow or marked reduction of flow on the symptomatic
side supports the diagnosis.
o Uterine Myoma:
▪ Myoma or fibroid may be asymptomatic or may seriously complicate pregnancy.

▪ Pregnancy may cause rapid growth and degenerative changes in the fibroids.
▪ Submucosal fibroid may cause vaginal bleeding and spontaneous abortion.
▪ Fibroid undergoing cystic necrotic degeneration during pregnancy may cause acute pain and
tenderness over the uterus.
▪ Rapidly increasing fibroid may cause episode of aching pain, pressure symptoms, more
during the third trimester.
▪ At the onset of labor, fibroid may displaces the fetal presenting part or obstruct the birth canal
causing mechanical dystocia, and even IUD.
▪ A large pelvic fibroid may prevent descent of the presenting part; may cause still birth,
cesarean section is the preferred method of delivery.
o Pelvic Kidney:
▪ Pelvic kidney may be discovered incidentally by ultrasound during pregnancy scanning.

▪ It may occasionally obstruct the birth canal or may sustain injury during delivery.
▪ Pelvic kidney appears as “reniform mass” having the shape of a kidney with the typical echo
pattern and texture of normal kidneys.
▪ Pelvic kidney can be mistaken as ovarian mass.
▪ Pelvic kidney has an increased incidence of hydronephrosis and infection.
o Mullerian Anomaly:
▪ The demonstration of a bilobed uterine contour with a gestational sac in one lobe or horn is
typical of complete or incomplete uterine fusion anomaly.
▪ It is better appreciated at 1st trimester and on a transverse image. As pregnancy advances,
becomes difficult to appreciate.
▪ In a Septated uterus, the septum is visible by the amniotic fluid near the fundus (not in a
lower position) on serial transverse scan. The fetal body may be seen on one side of the
septum and fetal limbs on the other.
▪ D/D includes uterine fibroid and Cornual pregnancy.
▪ In a fibroid – lack of bilobed uterine contour, lack of central echo complex due to decidual
reaction helps to differentiate the two conditions.
▪ In a Cornual pregnancy – the eccentrically located gestational sac is associated with an
abnormally thin mantle of myometrium (<5mm) whereas with a GS in bicornuate uterus horn,
the sac should be bordered by a normal thickness of myometrium.
o Uterine Entrapment Syndrome (UES):
▪ UES is an acute problem of early pregnancy due to pelvic entrapment of a retroverted and/or
retroflexed uterus.With UES, the fundus normally directed and expands posteriorly and
inferiorly and gets trapped in the pelvis.
▪ Patients typically complaints of pelvic pain and backache, can compress the urethra causing
urinary frequency and infection.
▪ Spontaneous correction occurs in majority between 9-12 weeks.
▪ Rarely may lead to acute urinary retention (AUR) and bladder rupture. Emergency bladder
catheterization may be necessary to relieve AUR.
First trimester Fetal anomaly
Choroid Plexus Cysts Cleft Lip
Gastroschisis Physiological midgut herniation in first trimester
Herniation of the liver at 12-13 weeks gestation Omphalocele at 12 weeks
Anencephaly face Anencephaly
Acrania Holoprosencephaly
VSD – in color Doppler VSD
Mild Ventriculomegaly Severe ventriculomegaly
Lemon shaped head Banana Cerebellum
Hypertelorism Hypotelorism
Cystic hygroma at 12 weeks (long axis) Cystic hygroma in transverse axis
Echogenic Kidneys Hydeonephrotic kidneys
Body Stalk anomaly Megacystis
Thoracic dystrophy – Narrow thorax Short fractured femur

OB M02 Ch2.2 First Tri Anomaly Screening 11w 13.6w

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OB Module 1.

5 First Trimester Fetal Screening at 11-13W 6D

First Trimester US Screening for Fetal Anomalies at 11W-13W6D:

Elements of 1st trimester anomaly screening:

• The development of screening protocol has a number of essential components:

1) Ultrasound screening for “Soft-markers”.

• First an ultrasound marker and/or a maternal serum marker needs to be identified.

• A marker for aneuploidy or chromosomal abnormality is defined as an observation that has a

• Ultrasound screening for “Soft-markers” for aneuploidy:

• Maternal Serum Screening (MSS):

o MSS can be done by several biochemical markers. These are:

1. First Trimester MSS between 11-13+6 weeks:

• Non-Invasive Pregnancy Test – Cell-free DNA:

• Invasive Genetic tests or Karyotyping:

• Ultrasound Soft-markers for Chromosomal abnormality:

1. Nuchal Translucency (NT) :

▪ CRL: 45-84mm (11+0 to 13+6 weeks of gestation).

The forehead (curved arrow),

Diencephalon is visible (*).

CMa, cisterna magna;

o Normal NB develops at around 11 weeks and appears in US as a short linear echogenic

3. Frontomaxillary Facial Angle (FMF angle):

o To measure the FMF angle, the following lines are generated:

o FMF criteria for measurement of FMF angle:

4. Doppler evaluation of Ductus Venosus and fetal aneuploidy:

Image A and B: Evaluation of the ductus venosus flow using Doppler;

5. Doppler evaluation of blood flow across Tricuspid valve (TCV):

o If the TCV is competent, there should be no flow during ventricular systole.

o TCV is considered abnormal in the presence of regurgitation (TR).

• Other structural abnormalities as markers of aneuploidy:

a) Holoprosencephaly – risk of 1 in 2 for T13,

a) Choroid plexus cyst (>1.5cm) – risk of T18

• Structural defects with/without Chromosomal defects at 11-13+6 weeks:

▪ Birth prevalence 1 in 1000

▪ Acrania is defined as absence of cranial vault with a variable amount of disorganized

▪ Anencephaly is defined as absence of cranial vault with absence of whole or

▪ About 50% also may have extensive spina bifida.

▪ Polyhydramnios is common due to decreased ability of fetus to swallow amniotic fluid.

▪ US diagnosis can be made reliably by 12 weeks gestation. Can suspect as early as 10

▪ The characteristic sonographic feature of anencephaly or acrania is bulging eyes known

▪ A common feature of anencephaly is increased Polyhydramnios.

▪ Another frequent indirect feature of acrania-anencephaly sequence is echogenic

▪ It is a rare defect with birth prevalence 1 in 5000

▪ Earliest diagnosis can be done at 10 weeks based on visualization of single ventricle

▪ Spina Bifida at 11-13+6 weeks:

a) Lemon sign head – scalloping of the frontal bones of the skull

▪ The above signs may or may not be visible before 12 weeks.

US and diagram showing the IT in

▪ Choroid plexus cysts (CPC):

▪ CPS’s are relatively common in first trimester.

▪ Most common CNS anomaly.

▪ Cystic Hygroma (NCH):

▪ Fetal cystic nuchal hygroma is congenital malformation of the lymphatic system.

▪ T21, T18 and Klinefelter’s syndrome has also been reported.

▪ Heart defects in first trimester at 11-13+6 weeks:

▪ Abdominal wall defects:

▪ Birth prevalence 1 in 4000 births.