1 ultrasound diagnosis of fetal anomalies

1 Ultrasound diagnosis of
Fetal Anomalies

CLINICAL IMAGAGING
AN ATLAS OF DIFFERENTIAL DAIGNOSIS
EISENBERG
DR. Muhammad Bin Zulfiqar
PGR-FCPS III SIMS/SHL

• Fig FUS 1-1 Anencephaly. Long-axis image of a
14-week fetus demonstrates a poorly
developed, small head (arrows) visualized in
continuity with the fetal spine (arrowhead).1

• Fig FUS 1-2 Small occipital encephalocele. A
complex mass (straight arrows) is seen posterior
to a normally shaped head (arrowheads). There is
a defect in the occipital bone of the calvarium in
the posterior midline (curved arrow).1

• Fig FUS 1-3 Spina bifida. Sagittal scan of the
spine shows a large spina bifida (triple arrow)
and severe kyphoscoliosis (curved arrow). (SC,
spinal cord.)2

• Fig FUS 1-4 Spina bifida. Transverse scan of the
fetal body shows absence of the soft tissue
overlying the spine in the area of the defect
(large arrows). Note the typical separation of
the articular elements (small arrows).2

• Fig FUS 1-5 Myelomeningocele. Longitudinal
scan clearly shows the sac (M) extending
beyond the spinal canal. (I, ischial ossification
center; S, sacral promontory.)3

• Fig FUS 1-6 Dandy-Walker malformation.
Posterior fossa cyst (PC) with wide separation
of the cerebellar hemispheres (arrows). (C,
cavum septi pellucidi; FH, frontal horn.)3

• Fig FUS 1-7 Agenesis of the corpus callosum. Axial
scan passing through the lateral ventricles
demonstrates typical enlargement of the atria
(At) as well as the widely separated bodies (B)
and upward displacement of the third ventricle
(*).2

• Fig FUS 1-8 Hydranencephaly. Typical
appearance of the brainstem (BS) bulging
inside an entirely fluid-filled intracranial
cavity.4

• Fig FUS 1-9 Porencephaly. Coronal scan shows a large cystic
cavity (Cy) occupying most of one hemisphere and amply
communicating with the contralateral ventricle (LV). The
hyperechoic area seen close to the parietal bone was found
at birth to be a large blood clot (BC). (Inf, inferior; M,
midline; Sup, superior; T, thalami; 3v, third ventricle.)2

• Fig FUS 1-10 Holoprosencephaly. Transverse
axial scan shows a monoventricle (MC)
communicating with the dorsal sac (DS). The
line of demarcation (arrows) is the
hippocampal ridge. The cerebral cortex (CC) is
anteriorly displaced.5

• Fig FUS 1-11 Choroid plexus cyst. (A) Axial and
(B) parasagittal scans show a cyst (C) so large
that it expands the ventricle (V).1

• Fig FUS 1-12 Severe hydrocephalus secondary to
aqueductal stenosis. (A) Transverse sonogram
shows markedly dilated lateral ventricles
(arrowheads) widely separated from the midline
(arrow). (B) Transaxial view at a slightly lower
level demonstrates a dilated third ventricle
(arrow) between the thalami (T). The
arrowheads denote the remaining cortical
mantle.1

• Fig FUS 1-13 Arachnoid cyst at the level of the
interhemispheric fissure. There is an echo-
spared area (Cy) at the midline with
associated hydrocephalus. (FH, frontal horns;
OH, occipital horns.)2

• Fig FUS 1-14 Hypertelorism. Axial view through
the orbits (arrows) demonstrates an increased
interorbital distance between the calipers (+),
which measured 23 mm compared with a normal
of 18 mm for a fetus of this gestation age (29
weeks). The fetus also has hydrocephalus (curved
arrows).6

• Fig FUS 1-15 Hypotelorism. Coronal view of the
face of a fetus with holoprosencephaly
demonstrates a decreased interorbital distance
between the calipers (+), which measured 37 mm
compared with a normal of 52 mm for a fetus of
this gestational age (32 weeks). Asymmetric
microphthalmos (arrows) is also evident. The
curved arrow indicates the fetal mouth.6

• Fig FUS 1-16 Cyclopia. (A) Axial scan shows a
solitary, midline, widened bony orbit (arrows)
with a fused primitive globe. (A, anterior.) (B)
Sagittal profile view of the fetal face
demonstrates cyclopia (short straight arrow),
midline proboscis cephalad to the fused orbit
(long straight arrow), and the lips (curved arrow).
The fetus also had holoprosencephaly.7

• Fig FUS 1-17 Bilateral lateral cleft lip. Angled
coronal image of the fetal face through the nose
(open arrow) demonstrates bilateral clefts
(arrows) through the upper lips extending into
the nares. The mouth (curved arrow) is open. (C,
chin; L, lower lip; t, tongue.)6

• Fig FUS 1-18 Midline cleft lip. Coronal image
shows a prominent medial cleft (thin arrows).
The hypoechoic muscle of the lower lip is
marked by the thick arrow. (N, nose.)6

• Fig FUS 1-19 Cystic hygroma versus occipital meningocele. (A) Axial plane
image shows a huge cystic hygroma (CH) that extends from the fetal neck
to envelop the fetal head (curved arrow). Note the characteristic midline
septation (straight arrow) in the cystic hygroma that represents the nuchal
ligament. The skin of the fetal scalp is markedly thickened because of
hydrops (open arrow). (B) Axial plane image through the skull of another
fetus shows an occipital meningioma (OM) as a cystic mass extending
through a defect (arrow) in the occipital cranium. No septations are seen
within the mass.6

• Fig FUS 1-20 Gastroschisis. Sonogram of a 37-
week fetus shows mildly dilated, thickened
small bowel loops floating in the amniotic
fluid.3

• Fig FUS 1-21 Omphalocele. Axial plane image demonstrates
an omphalocele containing liver (L). There is a highly visible
covering membrane (large white arrow) that is outlined by
amniotic fluid and fetal ascites (a). The liver is identified by
its echotexture and blood vessels (small black arrows). The
umbilical vein (uv) is part of the herniated mass.8

• Fig FUS 1-22 Body stalk anomaly. Herniation of the
viscera in proximity with the placenta. The condition
was suspected because the infant was constantly
apposed to one uterine wall. (B, bowel loops; H, heart;
K, kidney; L, liver; P, placenta; T, thorax.)10

• Fig FUS 1-23 Congenital diaphragmatic hernia.
Transverse scan at the level of the heart shows a
striking mediastinal shift with deviation of the heart to
the right. The left hemithorax is occupied by a complex
mass (arrows) with cystic components (c). (Ant,
anterior; L, left; LA, left atrium; LV, left ventricle; Post,
posterior; R, right; RA, right atrium; RV, right ventricle;
Sp, spine.)2

• Fig FUS 1-24 Esophageal atresia. Transverse
scan of the fetal abdomen shows non
visualization of the normal stomach. The
arrows point to the collapsed wall of the
stomach. (Sp, spine.)2

• Fig FUS 1-25 Duodenal atresia. Transverse scan
of the upper abdomen shows the typical
double bubble. (D, dilated duodenal bulb; Sp,
spine; St, stomach.)2

• Fig FUS 1-26 Small bowel atresia. Transverse
scan of the abdomen shows multiple dilated
bowel loops (B). In the real-time examination,
increased peristalsis was seen.2

• Fig FUS 1-27 Meconium peritonitis. Transverse
scan shows multiple intra-abdominal
calcifications (curved arrows). The largest
calcification casts an acoustic shadow (small
arrows). (Sp, spine.)2

• Fig FUS 1-28 Ovarian cyst. Oblique scan shows
the large cystic lesion (C). The bladder (B) is
the hypoechogenic image below the cyst. The
kidney (K) is posterior to it.2

• Fig FUS 1-29 Bilateral renal agenesis and
severe oligohydramnios. The shadow
(arrowheads) in the renal fossa was confused
with a kidney. It corresponded to an adrenal
gland. (Sp, spine.)2

• Fig FUS 1-30 Multicystic dysplastic kidney
disease. Transverse scan shows multiple non
communicating cystic structures (C). (Sp,
spine.)2

• Fig FUS 1-31 Ureteropelvic junction obstruction.
Longitudinal scan of the kidney of a fetus with
unilateral hydronephrosis (arrows). Note that the
cystic structures representing dilated renal
calyces (C) communicate with the renal pelvis (P),
which is an important clue in differentiating this
entity from multicystic kidney disease.2

• Fig FUS 1-32 Megaureter. Coronal scan shows
the hydroureter (HU) associated with
dilatation of the renal pelvis (P) and calyces
(C).2

• Fig FUS 1-33 Posterior urethral valves. The
markedly dilated bladder (B), suggesting an
outlet obstruction, is associated with
dilatation of the proximal portion of the
urethra (U).2

• Fig FUS 1-34 Infantile polycystic kidney
disease. Transverse scan shows multiple small
cysts (arrows) in kidneys that fill the entire
abdominal cavity. (Sp, spine.)2

• Fig FUS 1-35 Ventricular septal defect (white
dots) in a fetus with tetralogy of Fallot. (f,
foramen ovale; LA, left atrium; LV, left
ventricle; RA, right atrium; RV, right
ventricle.)11

1 ultrasound diagnosis of fetal anomalies

1 ultrasound diagnosis of fetal anomalies

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