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Prenatal Diagnosis of Anterior Abdominal Wall Defects:

Pictorial Essay
R AGARWAL

Ind J Radiol Imag 2005 15:3:361-372

Keywords: anterior abdominal wall, omphalocele, gastroschisis, body stalk anomaly, prune-belly syndrome,
ultrasound, chromosome

C
ongenital anterior abdominal wall defects include an isolated ventral wall defect should be delivered in a
omphalocele, gastroschisis, body stalk anomaly unit with easy access to pediatric surgical facilities. As
and prune-belly syndrome. Omphalocele is a far as the mode of delivery is concerned, these fetuses
midline anterior abdominal wall defect with herniation of may safely be delivered vaginally, and cesarean delivery
the abdominal viscera into the base of the umbilical cord.. should be performed for obstetric indication only [4].
Gastroschisis is a defect lateral to midline with evisceration
of abdominal contents directly into the amniotic cavity.
Body stalk anomaly is an extensive abnormality of the
anterior wall with adhesion of eviscerated viscera to the
placenta. Prune-belly syndrome is an anomaly in which
intestinal pattern is evident through the thin, lax, protruding
abdominal wall in the infants.

Omphalocele and gastroschisis are most frequently

encountered congenital ventral wall defects. Majority
cases of omphalocele are associated with other serious
structural defects and chromosomal abnormalities.
Whereas, gastroschisis is usually an isolated lesion and
is not associated with other structural defects and
abnormal karyotype. Body stalk anomaly is also an
isolated anomaly with rare association with chromosomal
Fig. 1 Transverse scan of fetal abdomen at 19 -week-old
anomalies, but is lethal. Prune-belly syndrome is mostly fetus shows normal insertion of the umbilical cord.
associated with obstructive uropathy and severe
maldevelopment of urinary tract. The final outcome of
these defects is significantly affected by the presence of
additional structural and / or chromosomal abnormalities.
So, accurate detection and appropriate classification of
associated fetal anomaly is of great importance for the
further course of pregnancy [1,2]. For this reason, finding
of anterior abdominal wall defect requires further
assessment of the affected pregnancy by targeted
ultrasonography, echocardiography and karyotyping. In
cases associated with lethal or multiple severe anomalies,
parents may opt for elective termination of the pregnancy.
However, in absence of associated life threatening
anomalies, infants can have an uncomplicated course
with a normal long-term quality of life [3] but decision to
continue the pregnancy should be made by a
multidisciplinary team including experienced sonologist, Fig.2 Sonogram at 10 weeks gestation shows physiological
perinatologist, geneticist and cardiologists. Fetuses with herniation of midgut (arrow). UC- umbilical cord.

From the Meera Hospital, Shiv Marg, Bani Park, Jaipur

Request for Reprints: Dr. Rajesh Agarwal, S-9, Bhawani Singh Road, C-Scheme, Jaipur-302005

Received 23 October 2004; Accepted 15 April 2005

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362 R Agarwal et al
Antenatal sonography is the key imaging modality
available at present time. The widespread use of the fetal
ultrasonography in routine antenatal care now allows
majority of ventral wall defects to be identified before the
age of viability. Anterior abdominal wall defects cause
elevation in the MSAFP. Therefore, examination of the
ventral wall is a prerequisite part of the sonographic
evaluation in all pregnancies complicated by raised
MSAFP. Although the etiologies of anterior abdominal wall
defects are likely to be widely discrepant, the
pathophysiology of each defect leads to key
characteristics that make it possible to differentiate one
entity from another. Among these features are the location
of the defect in relation to cord insertion ( fig. 1 ), the size
and contents of the defect, and associated anomalies.
These basic features of simple abdominal wall defects
such as omphalocele and gastroschisis are used as the
initial points of assessment [5]. Using these basic
features, diagnosis of omphalocele and gastroschisis can
be made as early as 10 weeks and 12 weeks of gestation
respectively. But before the early diagnosis of these
defects is considered one must be familiar with the
physiologic midgut herniation (fig. 2 ), which subsides at
12 weeks of gestation.
Accurate prenatal diagnosis of ventral wall defects, using
ultrasonography, is important because it affects patient
management and prognosis. However, detection rate of
omphalocele and gastroschisis
was found to be 66.7 % during the second and third
trimester [6]. In another study ultrasound examination
between 16 and 22 weeks gestation detected 60% of
defects with a false positive rate of 5.3 % and fetuses
with gastroschisis were incorrectly assigned as
exomphalos in 14.7 % [7]. Failure in correctly diagnosing
abdominal wall defects occurred mostly in cases with
small defects, ruptured omphalocele, multiple fetal
anomalies, intrauterine fetal death, twin pregnancies or
cases referred in late gestation. A significant regional
variation in the ultrasonographic detection of fetal
abdominal wall defects was also found in Europe [8]. The
variation reflects differences in screening policies,
equipment and operator experience. Misdiagnosis of
exomphalos as gastroschisis has serious implications
because exomphalos is often associated with
chromosomal anomalies and karyotyping may not be
performed because gastroschisis is rarely associated with
chromosomal anomalies. On the other hand,
gastroschisis may be misdiagnosed as an omphalocele,
which may result in unnecessary amniocentesis exposing
the patient to the risks involved in the procedure. Therefore,
some of the problems of diagnostic accuracy need to be
considered when counseling couples with a ventral wall
defect.
Although the specific factors leading to omphalocele and
IJRI, 15:3, August 2005
gastroschisis have not been elucidated, the focus has
rested on environmental and nutritional factors. Maternal
illness, infections, frequent medication during pregnancy,
smoking, and genetic abnormalities may be associated
with birth of babies with anterior abdominal wall defects.
Folic acid deficiency, hypoxia and salicylates have caused
laboratory rats to develop abdominal wall defects. One
recent study has shown that periconceptional multivitamin
use is associated with a 60% reduction in the risk of
nonsyndromic omphalocele [9]. However, another
investigation found no association between maternal folic
acid use and abdominal wall defects [10]. Abnormal levels
of carotene, glutathione, and high nitrosoamnies may be
related with ventral wall defects [11]. Gastroschisis is
seen more frequently in mothers who use vasoactive
substances such as nicotine and cocaine [12]. There are
several reports describing a higher rate of smoking in
women whose fetuses are found to have gastroschisis
[13]. However, according to one study maternal smoking
has not been associated with omphalocele [14]. Studies
from the California birth defects monitoring program have
proposed that a low prepregnancy body mass may
represent a risk factor for offspring with gastroschisis [15].
One study reported an increased rate of abdominal wall
defects among infants born to women who were obese
but not diabetic [16]. Another study reported an increased
risk of these defects with socioeconomic deprivation [17].
Prevalence of exomphalos increase with maternal age
and decrease with gestational age [18] whereas,
gastroschisis tend to occur in younger mothers which
may hypothetically be related to lifestyle factors
[19,20,21]. However, other investigations reported no clear
association between omphalocele risk and maternal age
[22].
Omphalocele
Normal development of the anterior abdominal wall
depends on the fusion of four ectomesodermic folds;
cephalic, caudal and two lateral folds. Failure of lateral
body folds to migrate centrally results in omphalocele. If
the anomaly of the ventral wall is more extensive and, in
addition to exomphalos involves cephalic embryonic fold
then it results in pentalogy of Cantrell. Similarly, if the
lateral fold defect is associated with caudal fold failure, it
results in exstrophy of bladder or cloaca.
Exomphalos is a sporadic abnormality with a birth
prevalence of about 1 in 4000. Prenatal diagnosis of an
omphalocele by ultrasound is based on the demonstration
of the midline abdominal wall defect, the herniated sac
with its visceral contents and the umbilical insertion at
the apex of the sac (fig. 3, 4, 5a,b,c, 6a,b). The sac is
composed of peritoneum, amnion and Whartons jelly.
Visualization of the sac confirms the diagnosis of
omphalocele and virtually excludes gastroschisis.
However, the amnio-peritoneal sac is not always visible (
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IJRI, 15:3, August 2005 Prenatal Diagnosis 363

fig. 3,4). Rarely, the sac may rupture in utero and

omphalocele masquerades as gastroschisis [23]. Visceral
contents in the sac may include loops of intestine, liver, (
fig. 5a,b,c, 6a,b, 7 ) and stomach. Ascites is common in
the herniated sac (fig. 5a,b,c, 6a,b, 7). Size of abdominal
opening in an omphalocele may range from a simple
hernia of the cord containing a few loops of bowel to giant
omphaloceles in which large part of liver protrudes. The
size of omphalocele does not alter the prognosis but
surgical reduction and repair correlates with size of the
abdominal wall defect. Sometimes, complete
exteriorization of the liver is seen ( fig. 8a,b); in such
cases abdominal and thoracic cavity may be small and
under developed. Associated pulmonary hypoplasia,
restrictive lung disease and oligohydramnios complicate
the out come. For pregnancies in which isolated
omphalocele is detected at early ultrasound, follow-up
scan is advised especially at 20-24 weeks gestation for
the detection of late-manifesting fetal anomalies. Follow-
up ultrasound also helps in detection of complete
disappearance of a small defect, which may occur later
in the pregnancy [24]. Additional follow-up ultrasound
examinations are also required until delivery.

Fig 3 Sagittal and transverse scan of a 15 weeks mature

fetus shows omphalocele (OM). Umbilical cord (UC)
insertion is seen at the apex of the herniated viscera, however,
no covering membrane is seen. It was associated with
alobar holoprosencephaly.

Fig 4 Transverse scan shows exomphalos (OM) at 22 weeks
gestation. Echogenic contents suggest evisceration of liver.
Umbilical cord insertion (UC) is seen at the apex of the
midline mass.
Fig 5 (a,b,c)
(a) Large exomphalos in a 28 weeks mature fetus. S- sac /
membrane of the herniated contents (HC), AS- ascites in the
sac, UC- umbilical cord insertion.
(b) Cauliflower like herniated bowel with
(c) Complete exteriorization of the liver
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364 R Agarwal et al IJRI, 15:3, August 2005

Fig 6 (a,b) Fig 8 (a,b)

(a) Large omphalocele at about 27 weeks gestation Longitudinal (a) and transverse (b) scan shows
shows extracorporeal liver (L) with a covering membrane (S) extracorporeal liver in a 32 weeks mature fetus associated
and ascites. with small abdomen and chest and oligohydramnios. No
(b) Scan of the same fetus showing eviscerated liver covering membrane was seen. Insertion of the umbilical
(L) and bowel (BL). cord was not localized.

A higher proportion of omphaloceles is associated with

Fig 7 Longitudinal scan at 27 weeks maturity shows large
omphalocele with only liver (L) as eviscerated organ, sac (S)
and ascites (AS) in the herniated sac.
concurrent malformations ( fig. 9), syndromes and
chromosomal anomalies [8]. Cardiac anomalies
[25,26,27,28,29], gastrointestinal, genitourinary [26],
neural tube [28,30], and musculoskeletal defects are
frequently found in association with exomphalos.
Omphalocele is involved in many polymalformative
syndromes such as Beckwith-Widemann [2], pentalogy
of Cantrell [31], Meckel-Gruber syndrome [32], and lethal
cleft palate-omphalocele syndrome [33]. The most
common syndrome associated with omphalocele is
Beckwith-Widemann syndrome, which is characterized
by omphalocele, organomegaly, gigantism,
hemihypertrophy, and polyhydramnios [34]. Associated
chromosomal anomalies include trisomies 18, 13, and
21, Turner, Klinefelter, and triploidy syndromes [35,36].
Karyotypic abnormalities are more common in association
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IJRI, 15:3, August 2005 Prenatal Diagnosis 365

with omphaloceles that contains only bowel compared
with those that contains only liver or bowel and liver both
[37,38]. Nonsyndromal omphalocele may be familial [39].
Prevalence of chromosomal defects increase with
maternal age and decrease with gestational age [18].
Associated polyhydramnios or oligohydramnios also
suggests increased risk of chromosomal anomalies.
Amniotic band syndrome is a common cause of abdominal
wall disruption defects. An atypical location of the
abdominal wall defect along with extremity deformity with
adherent band suggests amniotic band syndrome [45,46].
Multiple cavernous hemangiomas are often found over the
lower body and present as multiple surface masses that
causes limb hypertrophy. Compression of the lateral
thoracic wall due to transducer pressure or
oligohydramnios may change the shape of the fetal
abdomen, which may be confused with an exomphalos.
Prenatal diagnosis of 'hernia' of the fetal abdominal wall
has been reported. Sonography showed a large extra-
abdominal mass on the right of the normal umbilical cord
insertion and was not definable either as an omphalocele
or as gastroschisis [47,48]. Blood clots around the
umbilicus (fig. 10 a,b) secondary to placental abruption
may mimic an omphalocele or gastroschisis. Rarely,
acardiac monster (fig.11a,b), lying near the anterior
abdominal wall of the normal twin fetus, because of its
extremely bizarre appearance, may appear as an
omphalocele or gastroschisis.

Fig 9 Omphalocele in a 22 weeks mature fetus associated

with diaphragmatic hernia. H- displaced fetal heart.

Isolated omphalocele diagnosed during the early stages

of gestation typically has a good prognosis [24]. Perinatal
mortality rate is low in such case [40].

Differential diagnosis of an omphalocele include;

physiologic bowel herniation, umbilical hernia,
gastroschisis, amniotic band syndrome, exstrophy of
urinary bladder and cloaca, pentalogy of Cantrell, body
stalk anomaly, cavernous hemangiomas, pseudo-
omphalocele, blood clots and acardiac monster.

At 8-10 weeks of gestation, all fetuses demonstrate

physiologic umbilical herniation of the midgut ( fig. 2) that
is visualized as a hyperechogenic mass in the base of
umbilical cord; retraction into the abdominal cavity occurs
at 10-12 weeks and is completed by 11weeks and 5 days
[32,41,42]. A physiologic midgut herniation seldom
exceeds 7 mm in diameter and is invariably smaller
compared with diameter of the abdomen. Because of
physiologic herniation of bowel, diagnosis of an
omphalocele may be difficult before 12 weeks gestation.
However, there are some reports in the literature describing
detection of omphalocele as early as 10 weeks of
gestation [43,44]. Van Zalen- Sprock et al also reported
14 cases of exomphalos diagnosed at 11-14 weeks of
gestation [32]. Early detection is especially possible when Fig. 10 (a,b)
liver is identified as an eviscerated organ. Extracorporeal (a) Logitudinal scan at 37 weeks gestation shows large
liver has typical echogenic property within the herniated blood clot (arrow) which looked like an
omphalocele
sac and it never 'migrates' physiologically outside the
(b) Blood clots (arrow) lying adjacent the fetal abdomen (24
permanent place below the diaphragm. weeks) appearing as gastroschisis.
366
366 R Agarwal et al
Fig 11 (a,b)
Acardiac monster (18 weeks pregnancy) lying adjacent the
fetal abdomen of the normal twin fetus. Because of extreme
bizarre appearance, acardiac monster (arrow) may mimic
an anterior abdominal wall defect. In this case one long bone
(femur) was clearly visualized in the mass.
Pentalogy of Cantrell
This syndrome was first described by Cantrell and his
colleagues in 1958 [49]. Anomalies observed in this
disorder are (1) a midline, supraumbilical abdominal wall
defect (2) a defect of the lower sternum (3) a deficiency of
the anterior diaphragm (4) a defect in the diaphragmatic
pericardium (5) congenital intracardiac defects [49,50].
The most common intracardiac defects are atrial septal
defect, ventricular septal defect, and teratology of Fallot
[51]. Diagnosis of the complete syndrome requires the
above five criteria described by Cantrell but incomplete
variant forms exhibiting three or four of the features have
been described [52]. In sonography, ectopia cordis
associated with an omphalocele should suggest the
diagnosis of pentalogy of Cantrell (fig. 12a,b). Earliest
prenatal diagnosis of the syndrome has been reported at
9 weeks and 5 days. The syndrome may be associated
with other anomalies such as agenesis of the gallbladder,
and polysplenia [53], cystic hygroma, renal dysplasia [54],
IJRI, 15:3, August 2005
exencephaly and amniotic band syndrome [55].
Differential diagnosis includes isolated ectopia cordis,
ectopia cordis associated with amniotic band syndrome,
omphalocele and body stalk anomaly. In isolated defects,
primary repair in the neonatal period is the best type of
management for this rare condition [56]. However, the
out come depends on the severity of congenital cardiac
anomaly [31].
Fig 12 (a,b)
(a) Pentalogy of Cantrell diagnosed at 19 weeks
gestation. (a) Eviscerated abdominal viscera. L-liver, BL-
bowel.
(b) Eviscerated organs with ectopia cordis (H-heart).
Chambers of the heart are seen clearly.
Bladder and cloacal exstrophy.
Both bladder exstrophy and cloacal exstrophy are
sporadic abnormalities. Bladder exstrophy is found in 1
per 30000 births and cloacal exstrophy is found in about
1 in per 200000 births. The severity ranges from a small
vesicocutaneous fistula in the abdominal wall or simple
epispadias to complete exstrophy of the cloaca involving
exposure of the entire hindgut and the bladder.
Sonographically, bladder extrophy may appear as a well-
defined, solid or complex anterior abdominal mass below
the umbilical cord insertion, immediately superior to the
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IJRI, 15:3, August 2005 Prenatal Diagnosis 367

fetal genitalia. Prolonged and repeated scans fail to reveal and diaphragmatic defects [25]. Karyotype abnormalities
the fetal urinary bladder in presence of normal renal are exceedingly rare [66]. However, some familial cases
collecting system and ureters and amniotic fluid [57,58]. have been reported [67]. An autosomal recessive model
In addition, a small penis with anteriorly displaced of inheritance was found to be the most parsimonious
scrotum and abnormal widening of the iliac crests may explanation for the families of infants with isolated
be found [59]. Umbilical cord insertion may be abnormal. omphalocele and gastroschisis [68].
The protruding anterior abdominal mass does not contain
any large cystic area as it does not contain the urine that
is excreted directly from the ureters into the amniotic
fluid. Since there is no obstruction to urinary flow, upper
urinary tract and amniotic fluid index is found normal [60].
In cloacal exstrophy, both urinary and gastrointestinal
tracts are involved. Cloacal exstrophy (also referred to as
OEIS complex) is the association of an omphalocele,
exstrophy of the bladder, imperforate anus, and spinal
defects such as meningomyelocele [58,61]. Associated
anomalies are common including cardiovascular, central
nervous system, vertebral, small bowel atresia, single
umbilical artery, club foot and ambiguous genitalia.
Ambiguous genitalia is an important finding and
visualization of normal external genitalia will probably
exclude the diagnosis of bladder and cloacal exstrophy.
Cloacal exstrophy is commonly associated with
chromosomal abnormalities. Associated abnormalities are
rare in bladder exstrophy.

The prognosis depends on the presence of associated

anomalies. In isolated defects, with aggressive
reconstructive surgery, postoperative survival is more than
80%. However, if the diagnosis is made before viability
then termination of pregnancy is an option.

Gastroschisis

Gastroschisis is sporadic anomaly with a birth prevalence

of 1 per 4000. This deformation abnormality is probably
caused by disruption of the right omphalomesenteric artery
and a resultant full-thickness defect in the abdominal wall
located just lateral and usually to the right of an intact
umbilical cord. As a result, evisceration of small bowel
and, on occasion, even large bowel occurs into the
amniotic space [62]. Prenatal diagnosis by ultrasound is
based on the demonstration of the normally situated
umbilical cord insertion and the herniated free-floating
loops of intestine without any membranous covering or a
sac (fig.13 a,b,c). Since these free-floating bowel loops
lie uncovered in the amniotic fluid, they may become thick,
edematous and matted and appear as an echogenic
cauliflower-shaped mass protruding through the fetal
abdomen [63] (fig.13a,b,c) or an echogenic mass with
ragged edge. In addition to bowel, occasionally, herniation
of liver, pancreas, stomach, spleen, bladder, uterus,
ovaries, and fallopian tubes may also occur. The anomaly
Fig 13 (a,b,c)
can be diagnosed as early as 12 weeks of gestation [63,64 (a) Gastroschisis : Transvaginal scan shows eviscerated bowel
] but there is a sparsity of reports on first-trimester (arrow) appearing as a cauliflower -like mass in a 13 weeks
diagnosis. Gastroschisis is usually an isolated anomaly mature fetus. No covering membrane is seen.
(b) Gastroschisis in a 16 weeks mature fetus. Bowel loop was
but sometimes it may be associated with congenital heart significantly enlarged suggesting bowel obstruction. Note the
abnormalities [27], ectopia cordis [65], neural tube [28] typical umbilical cord (UC) insertion in a case of gastroschisis.
(c) Gastroschisis at 29 weeks gestation, showing cauliflower-like
mass without any covering membrane.
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368 R Agarwal et al IJRI, 15:3, August 2005

Affected patients have malrotated bowel. Vascular

compromise may occur from a volvulus. Serial ultrasound
follow-up is important because later in pregnancy bowel
obstruction, peritonitis, bowel perforation, and fetal growth
restriction may occur [69]. A bowel diameter greater than
17 mm represents significant bowel dilation due to
obstruction (fig 13b). Bowel diameter more than 11 mm
is usually associated with a greater number of postnatal
bowel complications. Sonographic findings of bowel
abnormalities are associated with difficult abdominal wall
repair and increased incidence of complications. However,
sonographic evaluation of bowel dilation for the purpose
of preventing bowel injury by early delivery is not generally
helpful [70]. Overall prognosis is usually favorable.
Postoperative survival is about 95% and is largely the
result of lack of other severe anomalies associated with
this defect [62]. However, the postoperative hospital stay
is often lengthy and complications related to the
gastrointestinal tract are very common [71]. Mortality is
usually the consequence of short gut syndrome.

Differential diagnosis includes physiologic bowel

herniation, omphalocele especially with ruptured sac,
umbilical hernia, amniotic band syndrome, bladder and
cloacal exstrophy, body stalk anomaly, cavernous
hemangioma, pentalogy of Cantrell, blood clots due to
placental abruption (fig 10 a,b), and sometimes acardiac
monster ( fig. 11a).

Body stalk anomaly

Body stalk anomaly is a sporadic, lethal abnormality, found

in about 1 per 10,000 pregnancies. The pathogenesis is
uncertain but possible causes include abnormal folding
of the trilaminal embryo during the first 4 weeks of
development, early amnion rupture with amniotic band
syndrome, and early generalized compromise of
embryonic blood flow. The ultrasonographic features are,
a major abdominal wall defect, severe kyphoscoliosis, a
short or absent or rudimentary umbilical cord, and limb
abnormalities. Absence of the umbilicus and umbilical
cord causes adherence of the placenta to the herniated
viscera such as liver and intestines rendering the fetus
immobile [72,73] (fig 14a,b,c). The typical features of body
stalk anomaly can be detected by ultrasound by the end
of the first trimester. The anomaly is usually associated
with abnormal nuchal thickness measurements.
Sometimes, in the first trimester, it is possible to
demonstrate the upper part of the fetal body in the amniotic
cavity and the lower part in the celomic cavity. The finding
suggests the early amnion rupture before obliteration of
the celomic cavity is a possible cause of the syndrome Fig 14 (a,b,c)
[74]. The anomaly is usually not associated with (a,b) Suprapubic sonogram at 16 weeks gestation showing
typical features of body stalk anomaly.
karyotypic abnormalities [75]. Smrcek JM et al reported
Herniated contents are attached to the placenta.
a case in which mosaic trisomy 2 was found [76]. (d) Transvaginal scan of the same case.

IJRI, 15:3, August 2005
Fig 15(a,b,c)
Entities which may cause prune-belly syndrome.
(a) Enlarged bladder, ureters and severe
hydronephrosis in a fetus of 32 weeks maturity due to
posterior urethral valves.
(b) Massively enlarged urinary bladder entirely filling
the fetal abdomen in a fetus (female) of about 24 weeks
maturity due to urethral atresia.
(c) Transverse and longitudinal scan shows massively
enlarged kidneys in a fetus of 31 weeks maturity.
369
Prenatal Diagnosis 369
Prune- belly syndrome
This syndrome, also called triad syndrome or Eagle-
Barrett syndrome, occurs in approximately 1 in 40,000
births; 95% of affected individuals are male. Its etiology
and pathogenesis is uncertain and may result from primary
obstructive urinary anomalies or defective mesodermal
development. It is characterized by a triad of distinctive
features including deficient abdominal muscles,
undescended testes, and urinary tract abnormalities
probably due to severe urethral obstruction in fetal life
[77]. Urinary tract abnormalities include massive dilatation
of the ureters and upper tracts and a very large bladder.
Anterior and posterior urethra may be dilated, resulting in
megalourethra. The kidneys usually show various degrees
of dysplasia. In females, anomalies of the urethra, uterus,
and vagina are usually present. The diagnosis should be
suspected in fetuses with very large abdominal masses.
These masses are most typically a result of bladder
obstructions due urethral valves (fig 15a) or urethral
agenesis (fig. 15b), but other large abdominal masses
such as ovarian cyst, hydrometrocolpos, massively
enlarged kidneys (fig.15c), and bowel (especially due to
Hirschsprung's disease) can also be the cause. The
syndrome may be associated with cardiovascular
malformation [78], gastrointestinal anomalies [78],
musculoskeletal defects including limb abnormalities [79]
and scoliosis. Differential diagnosis includes megacystis
megaureter, urethral obstruction, primary vesicourethral
reflux [80], neurogenic bladder, and megacystis
microcolon intestinal hypoperistalsis syndrome.
Termination of pregnancy can be offered before viability.
The prognosis depends on the degree of renal function
compromise. Early urinary obstruction leads to renal
failure, pulmonary hypoplasia and death in neonatal period.
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