Ultrasound scanning of fetal anomaly

Lung sequestration diagnosed on ultrasound at 20 weeks

of gestation. e=echogenic lung, v=vessel arising from aorta.
The role of ultrasound has evolved, especially in countries where a routine first trimester scan has been
introduced. The National Institute of Clinical Excellence (NICE) has recommended that all pregnant
women be offered two scans in pregnancy the first at 1113 weeks of gestation and the second
between 18+0 and 20+6 weeks of gestation.
The purpose of the first trimester scan is to:

establish gestational age

detect multiple pregnancy and chorionicity
measure fetal nuchal translucency as part of the combined test for the detection of Down
syndrome
detect fetal structural abnormalities
The main focus of the second trimester scan is the identification of fetal structural malformations. It also
plays an important role in fetal biometry, liquor volume assessment and placental assessment. The
majority of women have a normal result and are reassured by this. A small proportion of women will have
an abnormal result, and will turn to their obstetrician to provide them with further information.
This tutorial will help you to learn more about the fetal anomaly scan as a screening test, and the
management of some of the abnormalities that may be detected.

Learning outcomes
When you have completed this tutorial you will be able to:

provide a woman with appropriate pre-test counselling before a midtrimester

anomaly scan
describe the limitations of a midtrimester anomaly scan
describe the ultrasound characteristics of normal fetal anatomy and a range
of fetal abnormalities
outline the further management of a range of fetal abnormalities that can be
diagnosed on ultrasound
discuss the prognosis for a range of fetal abnormalities
understand the law relating to termination of pregnancy for fetal abnormality.

Essential reading
Royal College of Obstetricians and Gynaecologists. Amniocentesis and Chorionic
Villus Sampling. Green-top Guideline 8. London: RCOG. 2010.
Royal College of Obstetricians and Gynaecologists. The Care of Women
Requesting Induced Abortion. Evidence-based Clinical Guideline 7 . London:
RCOG. 2011.
Further reading
NHS Fetal Anomaly Screening Programme website.

The essential reading includes the most relevant guideline and/or article from The
Obstetrician & Gynaecologist for you to read before you begin working through this
tutorial. This literature is recommended, but not compulsory.
Papers listed under further reading (if applicable) are articles relating to the topic,
but may not be available as full-text and are for further information only.
Throughout the remainder of the tutorial where the content is referenced, the
references will be listed at the bottom of the page. These papers may not be
available as full-text and are for further information only, unless otherwise
specified.
If we have provided an external link to the abstract of an article, you might be able
to access the full-text version using a different institutions login (for example, your

Athens login). Alternatively you could consider purchasing the article.

Preliminary assessments
Before starting the tutorial, complete the following preliminary assessments on ultrasound scanning of
fetal anomaly:
assessment 1
assessment 2
assessment 3

Preliminary assessment 1
List the benefits of an anomaly scan.

Answer to preliminary assessment 1

List the benefits of an anomaly scan.
Answer:
Identification of abnormalities
Option of further investigation
Choice about whether to continue with a pregnancy or terminate
Planning of neonatal management
Gives the option of therapy for some conditions
Determination of placental site
Emotional benefits? Coming to terms with the birth of an abnormal baby or bonding with a normal

one

Detection of multiple pregnancy may be done on an earlier scan

Determination of gestation/dating may be done on an earlier scan.

Answer whether the following statements are true or false.

Anencephaly can be reliably diagnosed in the 1214 week scan
True
False
Incorrect
The answer is true. In the first trimester, the pathognomic feature is acrania, the brain being either
entirely normal or at varying degrees of distortion and disruption. Animal studies have shown that, in

the absence of the cranial vault, there is progressive degeneration of the exposed cerebral tissue to
anencephaly. The ultrasonographic appearances of anencephaly in the first trimester are different
from the familiar second trimester signs. The cerebral hemispheres are present and exposed to the
surrounding amniotic fluid. The ultrasound appearances in the coronal section of the head are best
described as 'Mickey Mouse face'. In a study involving 5388 low risk women, all six cases of
anencephaly were diagnosed in the first trimester and five of the six showed the Mickey Mouse
face. Anencephaly can be reliably diagnosed at the routine 1214 week ultrasound scan, provided
the sonographic features for this condition are specifically searched for.
Cystic hygromas are one of the more common anomalies detected in the first trimester and
can be associated with a normal karyotype
True
False
Correct
The answer is true. Cystic hygromas made up 35% of the anomalies detected and are the second
most common defect diagnosed in the first trimester scan. Cystic hygromas can range from
increased nuchal translucency to thin-walled septated cystic masses. The cysts may result from a
lymphatic abnormality, possibly due to absent or inefficient connections between the lymphatic and
venous systems. Fetal cystic hygromas have almost a 50% association with chromosomal disorders
such as aneuploidy. Cystic hygroma is strongly associated with Turner syndrome (predominantly a
45 XO karyotype), trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and Noonan
syndrome. The septated ones are more commonly associated with chromosomal abnormality. The
association with hydrops worsens the prognosis. If the karyotype is normal they may disappear,
particularly if non-septate, and can be associated with a normal outcome.
Fetal hydrops in the first trimester is often non-immune
True
False
Correct
The answer is true. Fetal hydrops is the end stage of a variety of conditions that lead to
accumulation of fluid in the fetal tissues and in its severe form the fetus has subcutaneous oedema,
ascites, and pleural and pericardial effusion. In the first trimester the cause is often non-immune. In
a review of 30 cases of non-immune hydrops fetalis (NIHF) structural abnormalities were noted in
83% and chromosomal abnormalities in 47% of cases. Nuchal translucency measurements were
greater than 3 mm in 28 of the cases (93.3%), and cystic hygroma was the most common detected
abnormality. More recently, there have been reports of fetal parvovirus infection presenting as

hydrops and this should be considered in the differential diagnosis.

A normal karyotype in the presence of increased nuchal translucency (NT) predicts a normal
fetal outcome
True
False
Correct
The answer is false. In chromosomally-normal fetuses, the prevalence of fetal death increases
exponentially with NT thickness from 1.3% in those with NT between the 95th and 99th centiles to
about 20% for NT of 6.5 mm or more. Most of these deaths occur before 20 weeks of gestation. The
prevalence of major fetal abnormalities in chromosomally-normal fetuses increases with NT
thickness, from 1.6%, in those with NT below the 95th centile, to 2.5% for NT between the 95th and
99th centiles and exponentially thereafter to about 45% for NT of 6.5 mm or more. The prevalence
of major cardiac abnormalities, diaphragmatic hernia, exomphalos, body stalk anomaly, skeletal
abnormalities, and certain genetic syndromes such as congenital adrenal hyperplasia, fetal akinesia
deformation sequence, Noonan syndrome, Smith Lemli-Opitz syndrome and spinal muscular
atrophy, appears to be substantially higher than in the general population and it is, therefore, likely
that there is a true association between these abnormalities and increased NT.
Abdominal wall defects such as omphalocecele can be confidently diagnosed before 12
weeks of gestation
True
False
Correct
The answer is false. Physiological herniation commences around 910 weeks of gestation and is
complete before 12 weeks of gestation. Midgut herniation has its maximal extension at the
beginning of week 10. The gut retracts into the abdominal cavity between 10 weeks 4 days and 11
weeks 5 days of gestation. Fetuses that are older than 11 weeks 5 days usually do not demonstrate
any sign of the herniation. Fetuses suspected to have ompalocele prior to 12 weeks of gestation
should be re-scanned after 12 weeks of gestation to confirm diagnosis. Other features such as
larger size of the herniation and the presence of liver will favour the diagnosis of omphalocele over
physiological herniation.

Preliminary assessment 3
Think back to the last antenatal clinic you did. Think of a woman you saw who was attending her booking
appointment you probably arranged an anomaly scan for her.

Consider the following questions:

1. What discussion did you have with the woman about this screening test for fetal abnormality?
2. What did you do well?
3. What could you improve on?

Screening tests
NHS Fetal Anomaly Screening Programme website.
The purpose of the second trimester anomaly scan
Major structural abnormalities occur in 23% of pregnancies, with congenital malformations accounting
for 2030% of neonatal deaths. The majority occur in low-risk women. The NHS Fetal Anomaly Screening
Programme (FASP) guidelines state that "All pregnant women should be offered the 18+0 to 20+6 weeks
fetal anomaly scan by a midwife or clinician (at first contact visit and/or booking visit)."
The second trimester scan is a screening test. A screening test is intended to be applied to a general
population with the aim of identifying a preventable or treatable condition where there is a useful
intervention that results in a reduction in mortality and/or morbidity.
FASP have developed recommendations for which key fetal structures should be examined leading to the
identification of any one of 11 specific conditions. These conditions have been chosen either because
they are fatal, associated with important morbidity or require immediate postnatal support. Only conditions
with reported detection rates of at least 50% (Bryant et al 2007) are included. Whilst other conditions may
also be detected during screening there is insufficient published data to guide the standards of detection
rate to be set (Kirwan 2010).

Condition

Detection rate (%)

Anencephaly

98%

Open spina bifida

90%

Cleft lip

75%

Diaphragmatic hernia

60%

Gastroschisis

98%

Exomphalos

80%

Serious cardiac abnormalities

50%

transposition of the great arteries (TGA)

atrioventricular septal defects (AVSD)
tetralogy of Fallot
hypoplastic left heart syndrome
Bilateral renal agenesis

84%

Lethal skeletal dysplasia

60%

Edwards syndrome (trisomy 18)

95%

Patau's syndrome (trisomy 13)

95%

Detection rates vary enormously in the original trials (1789.7%). This may have been because of the
level of risk in the women scanned, the skill of the sonographer or which anomalies were considered
(some trials only considered major anomalies).

Bryant L, Fisher A, Vicente F. Fetal Anomaly Ultrasound Screening Programme

Study: Literature Survey. Social and Regeneration Unit, University of Plymouth
Enterprise, Plymouth University; 2007.
Kirwan D. 18+0 to 20+6 Weeks Fetal Anomly Scan: National Standards and
guidance for England 2010. Exeter: NHS FASP. 2010.
Crane JP, LeFevre ML, Winborn RC, Evans JK, Ewigman BG, Bain RP et al. A
randomised trial of prenatal ultrasonographic screening: impact on the detection,
management, and outcome of anomalous fetuses. The RADIUS Study Group. Am
J Obstet Gynecol 1994;171:3929 [Abstract].
VanDorsten JP, Hulsey TC, Newman RB, Menard MK. Fetal anomaly detection by
second-trimester ultrasonography in a tertiary center. Am J Obstet
Gynecol 1998;178:7429 [Abstract].

Timing of the second trimester anomaly scan

When is the optimal time to perform the second trimester anomaly scan?
The optimal timerecommended by FASP and NICE to offer the second-trimester scan is between 18+0
and 20+6 weeks of gestation. A randomised controlled trial (Schwarzler et al 1999) demonstrated that
more scans need to be repeated if the scan is performed at 18 weeks of gestation. There did not appear
to be any benefit from waiting until 22 weeks of gestation.

The disadvantage of performing the anomaly scan at 22 weeks of gestation is that if a serious abnormality
were detected and the woman opted for termination of her pregnancy, she would have to undergo
fetocide.
A single repeat scan should be offered and completed by 23+0 weeks of gestation in cases where there
was suboptimal visualisation of the fetus during the first examination. Reasons for this may include:

increased BMI
uterine fibroids
abdominal scarring
sub-optimal fetal position.
If there is suspicion of an underlying anomaly and sub-optimal views are obtained, a second opinion
should be sought.

Schwarzler P, Senat MV, Holden D, Bernard JP, Masroor T, Ville Y. Feasibility of

the second-trimester fetal ultrasound examination in an unselected population at
18, 20 or 22 weeks of pregnancy: a randomized trial. Ultrasound Obstet
Gynecol 1999;14:927.

Pre-test counselling
There are clear recommendations about what information should be made available to women before
ultrasound screening for fetal abnormality is performed.
Women should know that the scan may:

confirm normality
identify a fetal condition
identify significant conditions that are untreatable but which are compatible with survival
identify treatable conditions
detect abnormalities with uncertain significance.
The scan findings may lead to:

the offer of invasive tests, such as amniocentesis

the offer of termination of pregnancy.
Women should also be made aware that not all abnormalities are detected on a routine anomaly scan. It
is a screening test and, therefore, sensitivity is not 100%.
The NHS FASP have provided clear guidance about the information women should be given prior to an
anomaly scan, and the process of consent for anomaly scanning.

NHS Fetal Anomaly Screening Programme. Consent Standards and Guidance.

Exeter: NHS FASP; 2011.

Key points
Women should know that the anomaly scan may:
confirm normality
identify a fetal condition
identify significant conditions that are untreatable but which are
compatible with survival
identify treatable conditions
detect abnormalities with uncertain significance
The scan findings may lead to the offer of an invasive test or termination of
pregnancy.
Women should be aware that the scan is a screening test and not 100%
sensitive.

First trimester ultrasound

With advances in ultrasound technology, the first trimester ultrasound is increasingly being utilised to
detect fetal malformations. Please refer to StratOG tutorial Principles of ultrasound for further information
on the technique of first trimester ultrasound.
Click on the link below to watch a video clip of an anatomical survey of a fetus in the first trimester.
First trimester anatomy scan (normal)
From a practical point of the view, fetal anomalies detected in the first trimester fall into three categories.
They can:

lways be detectable anencephaly, body stalk anomaly, megacystis, alobar holoprosencephaly

sometimes/potentially detectable spina bifida, facial cleft, polydactyly, renal agenesis
never detectable microcephaly, agenesis of the corpus callosum.
Dedicated first trimester scanning using transbdominal or transvaginal scanning show detection rates of
3165% in low-risk populations and 5474% in high risk populations (Syngelaki A et al). The studies
suggest that first trimester scanning is unlikely to replace routine mid-trimester scanning for fetal
abnormalities but should be used in conjunction with it.
A full anatomical survey of the fetus is technically more challenging and the findings should be correlated
to the embryological development at that gestation. After measuring the crown rump length (CRL) the
probe should be rotated 90 degrees and a transverse sweep of the fetus performed from cranium to feet.
Limitations of the first trimester anomaly scan are:

reduced detection of anomalies compared with the second trimester scan

some anomalies seen in the second trimester scans present differently in the first trimester;
hence, are mis-diagnosed

there is often no pathological confirmation of the diagnosis

some pregnancies complicated by gently serious malformation may miscarry spontaneously in
the first trimester/early second trimester and will not require the unnecessary risk of termination of
pregnancy.

Central nervous system

At 11 weeks of gestation the normal fetal head is large with a prominent forehead and a flat occiput. The
future skull can be distinguished and ossification starts in the occipital bone at 11 weeks of gestation (top
figure). The appearance of brain in first trimester is different from that in second trimester; on a transverse
section the hemispheres occupy two-thirds of the head and the choroid plexus occupy most of the
hemisphere giving a 'butterfly' appearance (bottom figure).

Sagittal section of fetal head

Transverse section of fetal skull

Anencephaly
Anencephaly or acrania can be diagnosed from 11 weeks of gestation onwards. It is one of the most
common anomalies to affect the central nervous system (1/1000). Anencephaly is a second trimester
diagnosis and is thought to start as acrania in the first trimester when the absence of the cranial vault
exposes the fetal brain and causes lysis. Absence of the cranial vault can be identified relatively easily as
seen in the figures below. It is incompatible with postnatal life.

Fetus with acrania in the sagittal section

Fetal acrania in transverse section

Encephalocele

Occipital encephalocele can be diagnosed as early as 13 weeks of gestation. They are herniations of
intracranial contents through a defect in the skull and in 75% of cases are occipital. It appears as cystic
swelling through a defect in the cranial ring (figure). The differential diagnosis includes other swellings in
the neck such as cystic hygroma. Once the diagnosis is made, a search should be made for other
abnormalities.

Encephalocele (note skull defect)

Abdominal wall defects

At a level just below the stomach bubble, the cord insertion into the anterior abdominal wall can be seen
and it is important to visualise this in order to exclude anterior abdominal wall defects. These comprise of
exomphalos and gastroschisis. Physiological midgut herniation occurs between 9 and 12 weeks of
gestation and can be seen clearly on ultrasound. Therefore, a diagnosis of exomphalos should not be
made before 12 weeks of gestation.

Exomphalos at 15 weeks of gestation

Gastroschisis, a right sided paraumbilical defect of the abdominal wall, is characterised by the protrusion
of free floating bowel loops through a defect in the abdominal wall, and can be diagnosed in the first
trimester.

Gastroschisis at 15 weeks of gestation

Caudal body wall defects like extrophy of the bladder have not been diagnosed in first trimester. It is not
unusual for the bladder to be not visualised before 12 weeks of gestation.

Genitourinary anomalies
Visualisation of the genitourinary system

The bladder appears as a circumscribed sonolucent area between the two iliac bones. Colour Doppler
can used to confirm the presence of the umbilical arteries on either side of the bladder. Kidneys can be
visualised at 10 weeks of gestation. The fetal bladder can be visualised in about 80% of fetuses at 11
weeks of gestation and in more than 90% of fetuses by 13 weeks of gestation. Non-visualisation of the
bladder after 14 weeks of gestation may be considered abnormal.
An abnormally dilated urinary bladder megacystis (see figure below) can be the result of posterior
urethral valves or urethral atresia. There is an association with abnormal karyotypes and, therefore,
should be investigated with fetal karyotype. With normal chromosomes, spontaneous resolution occurs in
90% of cases when the longitudinal diameter of the bladder is 715 mm. If the diameter is greater than 15
mm the prognosis is uncertain and it may progress to obstructive uropathy.

Fetus with megacystis at 14 weeks of gestation.

Nuchal translucency and Down syndrome

A nuchal translucency (NT) measurement greater than or equal to 3.5 mm is associated with an increased
risk of fetal chromosomal anomalies. In such cases, you should refer the woman for specialist scanning
and counselling. There is also evidence that an increased NT is associated with structural anomalies and
rare syndromes.

For more information about screening for Down syndrome see the Principles of
antenatal caretutorial in StratOG.

Cystic hygroma
A cystic hygroma is an echolucent structure seen most commonly in the nuchal area. Septations are seen
within it, which differentiates it from a nuchal translucency. It is associated with a higher chance of fetal

demise, chromosomal abnormalities and structural anomalies. Fetuses with large cystic hygromas may
become hydropic.

Anomaly scan image of a cystic hygroma. The head is seen in the transthalamic
plane (BPD=biparietal diameter; HC=head circumference). Calliper 3+ marks
the cystic hygroma, which has an anteriorposterior
width of 6.7 cm. Septations can be seen.

Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH.. Challenges in the

diagnosis of fetal non-chromosomal abnormalities at 1113 weeks. Prenat
Diagn 2011;31:90102.

Key points
The first trimester scan is a useful adjunct to the routine midtrimester
anomaly scan
Some conditions can be confidently diagnosed on the first trimester scan,
allowing for earlier intervention
Limitations of the first trimester scan include reduced detection, no
pathology to confirm findings and some pregnancies may have miscarried anyway
without intervention
Detection of one abnormality should prompt further assessment for other
abnormalities

Second trimester ultrasound

The remainder of this eTutorial focuses on the second trimester ultrasound scan.

FASP have recommended a set of minimal standard views that should be seen during a routine anomaly
scan. These include visualisation of:

head and neck

facial features
lungs and heart
abdominal contents
spine
limbs
assessment of the placenta and amniotic fluid.
Fetal biometry
Measurement of the head circumference (HC), abdominal circumference (AC) and femur length (FL)
should be measured to assess growth of the fetus where the expected date of delivery (EDD) has already
been assigned by first trimester ultrasound. If the EDD is not already known, HC has been found to be the
best predictor of gestational age between 14 and 22 weeks of gestation with an error of 3.77 days
(Chervenak et al 1998).

Chervenak FA, Skupski DW, Romero R, Myers MK, Smith-Levitin M, Rosenwaks Z

et al. How accurate is fetal biometry in the assessment of fetal age? Am J Obstet
Gynecol 1998;178:67887 [Abstract].

Head and neck

By assessing the intracranial anatomy in the three planes shown below, 95% of abnormalities will be
detected.

FASP recommend that specific structures should be seen on the three planes. These include
measurement of the head circumference and assessment of the head shape, visualisation of the cavum
septum pelucidum (CSP), measurement of the ventricular atrium (VA), visualisation and measurement of
the cerebellum and measurement of the nuchal fold if it appears large.

Enlarge

Images from the FASP Programme Handbook. Crown Copyright.

Enlarge
The VA measurement is stable and is considered normal when 10mm or less.
The nuchal fold should be measured if it appears subjectively increased. A measurement of 6 mm or less
is considered normal.

Facial features
To exclude a diagnosis of cleft lip relies on obtaining a coronal view of the fetal lips and nostrils.

Image from the FASP Programme Handbook. Crown Copyright.

Enlarge

Lungs and heart

Examination of the lungs is made in the same plane of the chest as that to examine the four-chamber view of the
heart. The lungs should be of uniform echogenicity. The ribs are easily identified.
Examination of the heart involves three main views:
1.
2.
3.

The 4-chamber view of the heart

The left outflow tract
The right outflow tract/three-vessel view.
Demonstration of a four-chamber view will detect 4050% of congenital heart disease in a low risk population at a
routine anomaly scan. By including imaging of the pulmonary and aortic outflow tracts in the anomaly scan, detection
rates increase to 6570%.
Normal situs should be ensured by orientating the fetus and ensuring the stomach and heart lie on the left side.

The four-chamber view of the heart. Enlarge

All images on this page are from the FASP Programme Handbook. Crown Copyright.

The left ventricular outflow tract. Enlarge

The left ventricular outflow tract. Enlarge

The three-vessel and trachea view. Enlarge