Prenatal Diagnosis of Anterior Abdominal Wall Defects: Pictorial Essay
Prenatal Diagnosis of Anterior Abdominal Wall Defects: Pictorial Essay
Prenatal Diagnosis of Anterior Abdominal Wall Defects: Pictorial Essay
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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.
Request for Reprints: Dr. Rajesh Agarwal, S-9, Bhawani Singh Road, C-Scheme, Jaipur-302005
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Antenatal sonography is the key imaging modality gastroschisis have not been elucidated, the focus has
available at present time. The widespread use of the fetal rested on environmental and nutritional factors. Maternal
ultrasonography in routine antenatal care now allows illness, infections, frequent medication during pregnancy,
majority of ventral wall defects to be identified before the smoking, and genetic abnormalities may be associated
age of viability. Anterior abdominal wall defects cause with birth of babies with anterior abdominal wall defects.
elevation in the MSAFP. Therefore, examination of the Folic acid deficiency, hypoxia and salicylates have caused
ventral wall is a prerequisite part of the sonographic laboratory rats to develop abdominal wall defects. One
evaluation in all pregnancies complicated by raised recent study has shown that periconceptional multivitamin
MSAFP. Although the etiologies of anterior abdominal wall use is associated with a 60% reduction in the risk of
defects are likely to be widely discrepant, the nonsyndromic omphalocele [9]. However, another
pathophysiology of each defect leads to key investigation found no association between maternal folic
characteristics that make it possible to differentiate one acid use and abdominal wall defects [10]. Abnormal levels
entity from another. Among these features are the location of carotene, glutathione, and high nitrosoamnies may be
of the defect in relation to cord insertion ( fig. 1 ), the size related with ventral wall defects [11]. Gastroschisis is
and contents of the defect, and associated anomalies. seen more frequently in mothers who use vasoactive
These basic features of simple abdominal wall defects substances such as nicotine and cocaine [12]. There are
such as omphalocele and gastroschisis are used as the several reports describing a higher rate of smoking in
initial points of assessment [5]. Using these basic women whose fetuses are found to have gastroschisis
features, diagnosis of omphalocele and gastroschisis can [13]. However, according to one study maternal smoking
be made as early as 10 weeks and 12 weeks of gestation has not been associated with omphalocele [14]. Studies
respectively. But before the early diagnosis of these from the California birth defects monitoring program have
defects is considered one must be familiar with the proposed that a low prepregnancy body mass may
physiologic midgut herniation (fig. 2 ), which subsides at represent a risk factor for offspring with gastroschisis [15].
12 weeks of gestation. One study reported an increased rate of abdominal wall
defects among infants born to women who were obese
Accurate prenatal diagnosis of ventral wall defects, using but not diabetic [16]. Another study reported an increased
ultrasonography, is important because it affects patient risk of these defects with socioeconomic deprivation [17].
management and prognosis. However, detection rate of Prevalence of exomphalos increase with maternal age
omphalocele and gastroschisis and decrease with gestational age [18] whereas,
gastroschisis tend to occur in younger mothers which
was found to be 66.7 % during the second and third may hypothetically be related to lifestyle factors
trimester [6]. In another study ultrasound examination [19,20,21]. However, other investigations reported no clear
between 16 and 22 weeks gestation detected 60% of association between omphalocele risk and maternal age
defects with a false positive rate of 5.3 % and fetuses [22].
with gastroschisis were incorrectly assigned as
exomphalos in 14.7 % [7]. Failure in correctly diagnosing Omphalocele
abdominal wall defects occurred mostly in cases with
small defects, ruptured omphalocele, multiple fetal Normal development of the anterior abdominal wall
anomalies, intrauterine fetal death, twin pregnancies or depends on the fusion of four ectomesodermic folds;
cases referred in late gestation. A significant regional cephalic, caudal and two lateral folds. Failure of lateral
variation in the ultrasonographic detection of fetal body folds to migrate centrally results in omphalocele. If
abdominal wall defects was also found in Europe [8]. The the anomaly of the ventral wall is more extensive and, in
variation reflects differences in screening policies, addition to exomphalos involves cephalic embryonic fold
equipment and operator experience. Misdiagnosis of then it results in pentalogy of Cantrell. Similarly, if the
exomphalos as gastroschisis has serious implications lateral fold defect is associated with caudal fold failure, it
because exomphalos is often associated with results in exstrophy of bladder or cloaca.
chromosomal anomalies and karyotyping may not be
performed because gastroschisis is rarely associated with Exomphalos is a sporadic abnormality with a birth
chromosomal anomalies. On the other hand, prevalence of about 1 in 4000. Prenatal diagnosis of an
gastroschisis may be misdiagnosed as an omphalocele, omphalocele by ultrasound is based on the demonstration
which may result in unnecessary amniocentesis exposing of the midline abdominal wall defect, the herniated sac
the patient to the risks involved in the procedure. Therefore, with its visceral contents and the umbilical insertion at
some of the problems of diagnostic accuracy need to be the apex of the sac (fig. 3, 4, 5a,b,c, 6a,b). The sac is
considered when counseling couples with a ventral wall composed of peritoneum, amnion and Whartons jelly.
defect. Visualization of the sac confirms the diagnosis of
omphalocele and virtually excludes gastroschisis.
Although the specific factors leading to omphalocele and However, the amnio-peritoneal sac is not always visible (
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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.
Fig 4 Transverse scan shows exomphalos (OM) at 22 weeks (b) Cauliflower like herniated bowel with
gestation. Echogenic contents suggest evisceration of liver. (c) Complete exteriorization of the liver
Umbilical cord insertion (UC) is seen at the apex of the
midline mass.
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with omphaloceles that contains only bowel compared Amniotic band syndrome is a common cause of abdominal
with those that contains only liver or bowel and liver both wall disruption defects. An atypical location of the
[37,38]. Nonsyndromal omphalocele may be familial [39]. abdominal wall defect along with extremity deformity with
Prevalence of chromosomal defects increase with adherent band suggests amniotic band syndrome [45,46].
maternal age and decrease with gestational age [18]. Multiple cavernous hemangiomas are often found over the
Associated polyhydramnios or oligohydramnios also lower body and present as multiple surface masses that
suggests increased risk of chromosomal anomalies. 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.
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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
Fig 12 (a,b)
This syndrome was first described by Cantrell and his (a) Pentalogy of Cantrell diagnosed at 19 weeks
colleagues in 1958 [49]. Anomalies observed in this gestation. (a) Eviscerated abdominal viscera. L-liver, BL-
disorder are (1) a midline, supraumbilical abdominal wall bowel.
(b) Eviscerated organs with ectopia cordis (H-heart).
defect (2) a defect of the lower sternum (3) a deficiency of
Chambers of the heart are seen clearly.
the anterior diaphragm (4) a defect in the diaphragmatic
pericardium (5) congenital intracardiac defects [49,50].
The most common intracardiac defects are atrial septal Bladder and cloacal exstrophy.
defect, ventricular septal defect, and teratology of Fallot
[51]. Diagnosis of the complete syndrome requires the Both bladder exstrophy and cloacal exstrophy are
above five criteria described by Cantrell but incomplete sporadic abnormalities. Bladder exstrophy is found in 1
variant forms exhibiting three or four of the features have per 30000 births and cloacal exstrophy is found in about
been described [52]. In sonography, ectopia cordis 1 in per 200000 births. The severity ranges from a small
associated with an omphalocele should suggest the vesicocutaneous fistula in the abdominal wall or simple
diagnosis of pentalogy of Cantrell (fig. 12a,b). Earliest epispadias to complete exstrophy of the cloaca involving
prenatal diagnosis of the syndrome has been reported at exposure of the entire hindgut and the bladder.
9 weeks and 5 days. The syndrome may be associated Sonographically, bladder extrophy may appear as a well-
with other anomalies such as agenesis of the gallbladder, defined, solid or complex anterior abdominal mass below
and polysplenia [53], cystic hygroma, renal dysplasia [54], the umbilical cord insertion, immediately superior to the
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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.
Gastroschisis
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