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Gastroschisis
Last Updated: December 2, 2005

Synonyms and related keywords: paromphalocele, embryonal ruptured omphalocele,

laproschisis, abdominoschisis, full-thickness abdominal fusion defect, abdominal
herniation

AUTHOR INFORMATION

Author: Ali Nawaz Khan, MBBS, LRCP, FRCS, FRCP, FRCR, Chairman of Medical
Imaging, Professor of Radiology, NGHA, King Fahad Hospital, King Abdulaziz Medical
City, Riyadh, Saudi Arabia

Coauthor(s): Nigel Thomas, MBBS, Vice-Chair, Manchester (North) Research Ethics

Committee; Honorary Lecturer, Visiting Professor, University of Salford; Sumaira
Macdonald, MBChB, MRCP, FRCR, PhD, Lecturer, Sheffield University Medical
School; Endovascular Fellow, Sheffield Vascular Institute; Zahida Sabih, MBBS, MSc;
Durre Sabih, MBBS, MSc, Visiting Faculty, Department of Nuclear Medicine, Pakistan
Institute Applied Sciences and Nishtar Medical College, Director, Multan Institute of
Nuclear Medicine and Radiotherapy

Ali Nawaz Khan, MBBS, LRCP, FRCS, FRCP, FRCR, is a member of the following
medical societies: American Institute of Ultrasound in Medicine, Radiological Society of
North America, Royal College of Physicians, Royal College of Physicians and Surgeons
of the USA, Royal College of Radiologists, and Royal College of Surgeons of England

Editor(s): Harris L Cohen, MD, FACR, Vice Chairman/Associate Chairman (Research

Activities), Director, Division of Body Imaging, Professor of Radiology, Stony Brook
School of Medicine; Visiting Professor of Radiology, Johns Hopkins School of Medicine;
Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist
Rehabilitation Services, Hutt Valley District Health Board, New Zealand; Karen L
Reuter, MD, FACR, Professor, Department of Radiology, Lahey Clinic Medical Center;
Robert M Krasny, MD, Consulting Staff, Department of Radiology, The Angeles Clinic
and Research Institute; and Eugene C Lin, MD, Consulting Staff, Department of
Radiology, Virginia Mason Medical Center

Disclosure

INTRODUCTION

Background: Gastroschisis represents a herniation of abdominal contents through a

paramedian full-thickness abdominal fusion defect. The abdominal herniation is usually

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to the right of the umbilical cord. No genetic association exists. A gastroschisis usually
contains small bowel and has no surrounding membrane. The herniated bowel is not
rotated and is devoid of secondary fixation to the posterior abdominal wall.

Gastroschisis usually is detected in the second trimester using antenatal sonography. The
maternal serum alpha-fetoprotein (AFP) level is elevated in 77-100% of mothers. The
mortality rate is approximately 17%. Surgical repair should be offered within the first day
after delivery to avoid infection. The outcome is no different in infants delivered in
tertiary obstetric centers than in infants delivered in smaller peripheral hospitals, although
delivery within easy access of a neonatal surgical unit is advised. Cesarean delivery is
performed in many mothers of fetuses with gastroschisis, although this does not convey
any advantage over vaginal delivery.

Pathophysiology: Controversy exists regarding the cause of gastroschisis. Some

authorities suggest that the defect is caused by abnormal involution of the right umbilical
vein, resulting in rupture of the anterior abdominal wall at a point of weakness. Others
suggest that gastroschisis results from rupture of an exomphalos. Rupture of a small
omphalocele and transformation into a gastroschisis has been described in utero. This
observation has led to speculation that gastroschisis could represent an omphalocele that
ruptures before the somatic components of the anterior abdominal wall become folded.
The much-increased incidence of associated anomalies in patients with omphalocele does
not support this theory.

Another theory for etiology of gastroschisis is premature interruption of the right

omphalomesenteric artery, which results in ischemic injury to the anterior abdominal wall
through which herniation of abdominal contents occurs. This artery persists under normal
circumstances.

Because the herniated bowel is bathed by amniotic fluid, both maternal serum and
amniotic fluid AFP levels are elevated, more so than in exomphalos. In early pregnancy,
the bowel loops can be seen floating in the amniotic fluid. The thickness and the diameter
of the bowel are normal. Later in pregnancy, bowel obstruction, peritonitis, bowel
perforation, and fetal growth restriction may occur. Intrauterine growth restriction
(IUGR) occurs in 38-77% of fetuses and is usually secondary to nutrient loss through
exposed bowel. Approximately 48% of infants with gastroschisis are small for their
gestational age.

A bowel diameter greater than 17 mm usually represents significant bowel dilation, and
diameters greater than 11 mm are usually associated with a greater number of postnatal
bowel complications. Sonographic findings of bowel abnormalities are associated with
difficult abdominal wall repair and an increased incidence of complications.

Tibboel and associates reviewed a number of studies in which prenatal and postnatal
autopsy material showed no evidence of abnormal histologic results in ganglion cells or
in the myenteric nervous system to explain the motility disorder that accompanies some
cases of gastroschisis. Tibboel et al also showed that a fibrous peel surrounds the

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herniated bowel beginning at approximately 30 weeks' gestation. Ischemic changes in the

bowel loops usually are not seen in fetuses with gastroschisis who were aborted before 30
weeks' gestation. However, ischemic changes are seen in postnatal infants who have
hypoperistalsis, which suggests that bowel vascular compromise may occur at the
abdominal wall defect late in pregnancy.

The cause of bowel injury in gastroschisis has been controversial for several years.
Experimental animal models have shown that when bowel is exposed to allantoic
contents, it thickens, becomes edematous, and develops a fibrous peel, whereas bowel
exposed to amniotic fluid alone develops normally. Results from animal models have led
to the suggestion that the urine in amniotic fluid causes the bowel damage. The fibrous
peel consists of type 1 collagen and fibrin, and it usually dissolves after surgical repair.
Some authors suggest that the peel itself may cause the bowel motility disorder.

Another recent animal study has shown that bowel damage in gastroschisis at least
partially depends on meconium exposure in utero. The authors of this study suggested
that the increasing evidence of physiologic in utero defecation supports the hypothesis
that bowel damage in gastroschisis may be meconium dependent (Correia-Pinto, 2002).

Gastroschisis is classified as an open fetal defect by virtue of the finding that it is not
covered by skin. Open fetal defects allow diffusion of AFP from the fetal circulation into
amniotic fluid. Since the fetal AFP level is 200-300 times as high as the concentration in
amniotic fluid, the diffusion is not only reflected as higher amniotic fluid AFP levels but
also reflected in higher maternal serum AFP levels, albeit to a lesser degree. AFP levels in
gastroschisis usually are higher than those found with omphalocele. The lower maternal
serum AFP level in open fetal defects reflects the fact that the amnion represents a
significant barrier to the diffusion of AFP from the amniotic fluid into the maternal
circulation. Maternal serum AFP levels usually are higher than 2.5 multiples of the
median (MoM) in 77-100% of mothers of fetuses with gastroschisis.

Major malformations and chromosomal anomalies are common in association with

omphalocele. However, these anomalies are rare in gastroschisis, with the exception of
intestinal atresia, which appears to be a direct consequence of in utero herniation. Bowel
anomalies occur in 5% of patients with gastroschisis and include intestinal atresia or
stenosis resulting from vascular compromise. Rarely, ectopia cordis has been recorded.
Chromosomal anomalies in gastroschisis are extremely rare, and most centers do not
recommend karyotyping in infants with gastroschisis.

Frequency:

 In the US: Incidence is 1.75-2.5 cases per 10,000 live births. Most cases are
sporadic, although a few familial cases have been reported. Occurrence in twins
has been reported.

 Internationally: The incidence is the same as in the United States.

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Mortality/Morbidity: Although reported survival rates are good in gastroschisis, the

postoperative hospital stay is often lengthy, and complications occur frequently,
especially complications related to the gastrointestinal tract. Evidence of bowel damage,
such as atresia, necrosis, or severe dilatation or thickening of the bowel, or the inability to
close the abdominal defect primarily indicates poor prognosis. Prenatally, bowel
obstruction, peritonitis, bowel perforation, prematurity, and fetal growth restriction may
be complications of gastroschisis. Postnatally, malrotation, small bowel atresia or
stenosis, bowel infarction, prolonged intestinal motility dysfunction, necrotizing
enterocolitis, chronic short-gut syndrome, and hyperalimentation hepatitis may occur.

Deformations of the fetal urinary tract can develop secondary to gastroschisis. These do
not represent separate malformations, and karyotyping is not indicated. When
hydronephrosis is present, ongoing urologic evaluation of the neonate is indicated.

Survival rates after surgery are 87-100%. Mortality rates are 17%, and most deaths occur
as a result of premature delivery, sepsis, and bowel infarction. Clinical outcome cannot be
correlated with the size of the abdominal defect as estimated using sonography or with
the known time of exposure to amniotic fluid. Gastroschisis diagnosed antenatally can
resolve in utero causing necrosis of portions of the small and large bowel, causing short-
bowel syndrome and increased mortality and morbidity rates. Spontaneous resolution of
gastroschisis and closure of the anterior abdominal wall defect have been described.

Associated anomalies are more uncommon than in omphalocele. Reported overall

incidence of associated anomalies is 7-30%. The anomalies are not related directly to the
defect and include anencephaly, cleft lip and palate, ectopia cordis, atrial septal defect,
diaphragmatic hernia, scoliosis, syndactyly, and amniotic band. These anomalies add to
the morbidity.

Sex: A slight male predilection exists.

Age: The diagnosis can often be made by using antenatal ultrasonography before 20
weeks' gestation. With transvaginal sonograms, the diagnosis has been made as early as
12 weeks' gestation.

Anatomy: The anterior abdominal wall and cord insertion are readily recognized on
antenatal scanning because the wall provides a direct interface between itself and the
amniotic fluid. The anterior abdominal wall is best demonstrated by axial scans.
Assessment of the lower anterior abdominal wall occasionally is made difficult by flexed
fetal limbs. The inner aspect of the anterior abdominal wall is difficult to see because its
echodensities are identical to the remainder of the abdominal viscera unless fetal ascites
is present.

Gastroschisis results from herniation/evisceration of small bowel into the amniotic cavity
through a small defect (2-5 cm) in the right paraumbilical region. Reportedly, the defect
can be located in the left paraumbilical region, but this site is extremely rare. No covering
membrane exists. The large bowel (common), pancreas, stomach, liver (rare), spleen,

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bladder, uterus, ovaries, and fallopian tubes may also be herniated. The attachment of the
umbilical cord is normal.

Clinical Details: Gastroschisis is found incidentally or because of an elevated maternal

AFP level. Rarely, polyhydramnios may prompt an antenatal ultrasonographic
examination. Fetal growth restriction is a frequent association. Oligohydramnios is rare.
Chromosomal anomalies are not associated with gastroschisis, and familial occurrence is
exceptionally rare. Approximately one half of fetuses with gastroschisis are small for
gestational dates. Fetal abdominal circumference, which is regarded as a standard
reference for assessment of fetal size, does not apply to this group of fetuses; therefore,
obstetric management may be difficult.

The presence of the bowel in amniotic fluid may affect cardiotocographic monitoring. As
a result of the difficulty in monitoring fetal maturity and fetal well-being, cesarean
delivery is performed with many fetuses, although this does not convey an advantage in
terms of fetal mortality or morbidity. Postnatal management requires a sterile covering of
cling film over the herniated viscera to prevent infection, heat and evaporative loss, and
the need for immediate transfer to a neonatal surgical unit. Hospital stays in these infants
are lengthy, and although most of these infants are usually on normal feedings by 4 weeks
from the date of delivery. Many affected infants require months of intravenous feeding
because of the many bowel complications associated with gastroschisis.

Preferred Examination: Antenatal sonography is the key imaging examination available

at the present time. Antenatal detection rates are 70-72%. Prenatal sonography is the
primary imaging modality in pregnancy because it is noninvasive, rapid, and allows real-
time fetal examination. Plain radiographs and bowel contrast studies may be indicated in
the postnatal postoperative period to assess bowel complications.

Limitations of Techniques: Ultrasonography remains operator dependent, and artifacts

are a problem. Despite the straightforward nature of the defect, a diagnosis of
gastroschisis can be missed.

Misdiagnosis of exomphalos as gastroschisis has occurred in 5% of patients. This

misdiagnosis has serious implications because exomphalos is often associated with
chromosomal and other severe anomalies and karyotyping is not performed in patients
with gastroschisis.

In one series, gastroschisis was misdiagnosed as exomphalos at a rate of 14.7%. This

misdiagnosis results in unnecessary amniocentesis, which exposes the patient to the risks
involved in amniocentesis and which exposes the mother to psychological trauma.

Assessment of fetal size by using abdominal circumference measurements is difficult in

the presence of gastroschisis. Postnatal plain radiographs and bowel-contrast studies lack
specificity and expose the infant to a radiation burden.

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DIFFERENTIALS

Ileal Atresia
Omphalocele

Other Problems to be Considered:

Physiologic bowel herniation

Physiologic herniation occurs at 10-13 weeks. The best method for differentiating this
from an omphalocele is to obtain a repeat sonogram after 15 weeks' menstrual age. A
large defect with the liver exteriorized indicates an omphalocele at any gestational age.

Omphalocele

Omphalocele is herniation of a variable amount of abdominal viscera through a defect (2-

10 cm) at the base of the umbilical cord. A membrane covers the herniation,
differentiating it from gastroschisis, and the umbilical vessel inserts into the apex.
Association with liver herniation, ascites, cardiac defects, and chromosomal anomalies is
frequent. Association with holoprosencephaly and limb anomalies is occasional.
Incidence of chromosomal abnormalities is high at approximately one third. Prognosis is
related to the karyotype, associated abnormalities, and contents of the omphalocele.

Umbilical hernia

Umbilical hernia results from a defect in the linea alba; the protruding bowel is covered
by subcutaneous tissues and skin. Umbilical hernia is common in the first months in 20%
of African American neonates and in 3% of white neonates. Umbilical hernia is common
in premature infants, namely, in more than 5% of premature infants weighing less than
1500 g. Ultrasonographic findings include a prominent bulge of the anterior abdominal
wall that may contain omentum and/or bowel, which may protrude into the umbilical
cord. Amniotic fluid AFP levels may be elevated when the bowel is herniated into the
umbilical cord.

Amniotic band syndrome

Amniotic band syndrome (ABS) is a common cause of abdominal wall defect.

Involvement of the abdominal wall may produce appearances similar to gastroschisis.
However, an atypical location of the abdominal wall defect suggests the diagnosis of
ABS. Membranes contiguous with such a defect may be identified.

Bladder extrophy

Sonographically, bladder extrophy may present as an external, well-defined, solid or

complex mass immediately superior to the fetal genitalia. Prolonged and repeated scans

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fail to reveal the fetal bladder. The renal collecting system and ureters need not be dilated,
and unilateral or horseshoe kidneys may be found. Uterine and adnexal anomalies are
relatively frequent. The pubis is abnormally wide, and the umbilical cord insertion may
be abnormal.

Cloacal extrophy

Cloacal extrophy consists of a low omphalocele; bladder or cloacal extrophy; and,

frequently, other caudal anomalies. These other conditions may include
meningomyelocele anal atresia and lower limb anomalies. Most affected fetuses have a
single umbilical artery. Ultrasonographic findings include a low anterior abdominal mass
below the umbilical cord associated with an absent urinary bladder.

Limb-body-wall complex

Limb-body-wall complex (LBWC) is a lethal condition with a severe anterior abdominal

wall defect. The defect is placed laterally and involves the size of the umbilical cord
insertion. The abdominal contents lie outside within a sac of amnion and mesoderm.
Association with congenital heart defects (CHDs), cranial anomalies (encephalocele),
limb abnormalities, and scoliosis is frequent. Chromosomal defects usually are not
present.

Cavernous hemangioma

Cavernous hemangiomas are most frequently found over the lower body and often are
associated with Klippel-Trenaunay-Weber syndrome, which is diagnosed in the presence
of multiple surface masses producing limb hypertrophy. Hydrops may occur.

Thoracoabdominal pentalogy of Cantrell

Ectopia cordis associated with a ventral wall defect should prompt the diagnosis of
pentalogy of Cantrell. The syndrome is often associated with other anomalies.

Blood clot

Blood clot around the umbilicus secondary to traumatic amniocentesis or abruptio

placenta may mimic gastroschisis.

RADIOGRAPH

Findings: Conventional radiography is no longer used in the assessment of fetal

abnormalities because it exposes both the mother and fetus to an unnecessary radiation
burden. However, conventional radiology does have a role in postnatal evaluations,
particularly in infants in the postoperative period. A minority of infants develop
complications, such as necrotizing enterocolitis, short-bowel syndrome, persistent bowel

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dysfunction, and cholestatic jaundice. Investigation by means of plain imaging, contrast

studies, and ultrasonographic examinations are necessary and helpful in these patients.

Plain images reveal bowel-wall thickening, luminal dilatation, and generalized abdominal
distension. Small-bowel enema is considered superior to conventional follow-through in
distinguishing mechanical obstruction from functional obstruction in infants with
persistent bowel dilatation.

Degree of Confidence: Conventional radiographs demonstrate poor resolution between

maternal parts and fetal parts, and they have no place in antenatal management.

Plain-film and contrast radiography are excellent noninvasive procedures for use in the
investigation of the postoperative persistent gaseous distension in infants. Plain
radiography remains the most useful noninvasive procedure in the radiographic diagnosis
of small bowel obstruction despite its limited sensitivity (50-66%). When plain
radiographic findings are combined with the clinical history and results of physical and
laboratory examinations, a confident diagnosis of small-bowel obstruction can usually be
made.

False Positives/Negatives: Plain radiographs cannot always be used to differentiate

mechanical obstruction from functional obstruction. Differentiating an adynamic ileus
from a mechanical small-bowel obstruction may be particularly difficult, especially in the
immediate postoperative period. Eventually, most intestinal obstructions (especially when
strangulation is present) may lead to an adynamic ileus, which is associated with
perforation and peritonitis. Under these circumstances, gas may appear in the small bowel
proximal to the obstruction or may be retained in the atonic colon, leading to diagnostic
confusion.

Little or no gas within the small bowel may lead to a false-negative diagnosis.

CT SCAN

Findings: CT appearances of fetal gastroschisis discovered as an incidental finding have

been reported in a 25-year-old woman who was pregnant and who underwent CT for
blunt abdominal trauma. The high radiation burden makes CT unsuitable for use in the
assessment of fetal anomalies.

MRI

Findings: MRI has not been used in the diagnosis of gastroschisis, partly because MRI is
time consuming, expensive, and limited in availability. Moreover, to date, the image
quality has been poor. Some of these problems have been overcome with the use of
ultrafast sequences; therefore, MRI can be used as an adjunct to ultrasonography,
especially in patients in whom ultrasonographic findings are unclear or degraded as a
result of obesity or oligohydramnios.

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MRI findings frequently add information beyond that available with sonograms. This
information commonly changes patient counseling and, at times, patient treatment. MRI
does provide a global view of the fetus and its anatomy's analysis in multiple planes. MRI
is useful in the diagnosis of intestinal obstruction and detection of microcolon,
malrotation, and volvulus.

Degree of Confidence: Fetal MRI during the first trimester remains controversial
secondary to biosafety issues, and its use is limited because of the diminutive fetal size.
However, fetal abdominal masses are well depicted on MRIs, and the performance of
MRI is not affected by diminished amounts of amniotic fluid.

False Positives/Negatives: Sufficient experience has not yet been gained in the diagnosis
of anterior abdominal-wall defects with MRI to determine the existence of false findings.

ULTRASOUND

Findings: Prenatal sonography is the primary imaging modality in pregnancy because it

is noninvasive and rapid and because it allows real-time fetal examination. In suspected
gastroschisis, the following ultrasonographic features suggest the diagnosis:

 Findings include exteriorized bowel in relation to the anterior abdominal wall,

multiple loops of bowel, and a thickened bowel floating freely in the amniotic fluid.
The bowel can be identified by its characteristic sonographic pattern.
 Because no covering is present around the bowel loops; the bowel loops of a
gastroschisis result in a mass with irregular edges.
 Usually, the small and large bowels are herniated, but, occasionally, the stomach,
liver, gallbladder, spleen, uterus, adnexa, and urinary bladder may be herniated.
 Signs of intestinal obstruction may be depicted; examples of these include multiple
distended loops of bowel (both intraperitoneal and extraperitoneal), bowel loops
greater than 17 mm in diameter, and increased peristalsis. Polyhydramnios may ensue
in high intestinal obstructions. A bowel diameter of greater than 17 mm usually
represents significant bowel dilation, and diameters greater than 11 mm are usually
associated with a greater number of postnatal bowel complications.
 A right paramedian paraumbilical abdominal wall defect is revealed, usually of 2-5
cm.
 Insertion of the umbilical cord is normal.
 Typically, no ascites is noted.
 Bowel perforation can cause calcification and an intramesenteric extra-abdominal
pseudocyst.
 Unlike with omphalocele, associated anomalies are uncommon, but if present, most
are detectable on antenatal sonography.
 Color Doppler and Doppler velocimetry of the mesenteric circulation have been used
in the diagnosis of gastroschisis, but findings add little to the clinical outcome and are
not predictive of a poor neonatal outcome.
 Addition of 3-dimensional ultrasonography in patients with abdominal wall defects
can help in family counseling and in planning postnatal therapy.

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 Ultrasonography can be used in the postoperative neonatal period when images may
demonstrate features of intestinal obstruction, volvulus, perforation, ascites, and other
fluid collections.

Degree of Confidence: The sensitivity of abnormality detection using ultrasonography is

75% for gastroschisis and 77.3% for omphalocele. Ultrasound sensitivity in the diagnosis
of gastroschisis has improved considerably over the past decade.

False Positives/Negatives: Other anterior abdominal wall defects may mimic

gastroschisis, but with use of modern ultrasound equipment, confusion should not arise.
When the liver is intra-abdominal in an omphalocele, a false diagnosis of gastroschisis
may be entertained; however, the many anomalies associated with omphalocele should
indicate the correct diagnosis. Bladder extrophy, body-stalk anomaly, and periumbilical
blood clots are other mimics of gastroschisis (see Differentials).

INTERVENTION

Intervention: Amniocentesis may be required in patients in whom omphalocele cannot

be differentiated from gastroschisis. This is particularly the case when liver herniation
occurs in gastroschisis. Amniocentesis may also be performed for karyotyping in the
unusual event that other anomalies are present in association with gastroschisis.

Recently, amnioinfusion has been used to improve the outcome in fetuses affected by
gastroschisis. The mechanism by which this improvement results from a reduction of
inflammatory change remains to be proved. Another indication for amnioinfusion is in
fetuses with gastroschisis complicated by oligohydramnios. This is a particularly high-
risk group in which serial ultrasonography and computerized fetal heart rate monitoring
are necessary during the third trimester. In selected fetuses with gastroschisis and severe
oligohydramnios, serial amnioinfusion may be beneficial.

Medical/Legal Pitfalls:

 Before widespread use of antenatal sonography, anterior abdominal wall defects were
conditions that presented at birth to the dismay of the parents and the attending
physician.

 Antenatal sonography has introduced a new set of dilemmas and difficult questions
for both physician and parents. In the light of sonographic findings, difficult decisions
must be made by the family, which puts the physician under pressure to make an
accurate diagnosis so that parents can make informed decisions.

 Two anterior abdominal-wall defects that may mimic each other and are important to
differentiate are gastroschisis and omphalocele. The presence of each defect has
different implications; therefore, false-negative or false-positive diagnoses should be
avoided at all costs.

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Special Concerns:

With the use of antenatal sonography, the diagnosis of a surgically treatable malformation
is made before birth in increasing number of fetuses. This allows fetal intervention, in
utero transfer, planned delivery in a specialized unit, and antenatal counseling of the
parents regarding the likely prognosis and outcome. Counseling by specialized staff has
been shown to reduce the levels of parental anxiety associated with the diagnosis of fetal
surgical malformation.

PICTURES

Caption: Picture 1. Diagram of the transverse section of the fetal abdomen shows
gastroschisis. Note the bowel herniation in the right
paramedian/paraumbilical region. The cord is inserted in
the normal location to the left of the herniation. No
membranous covering exists over the herniated bowel.

Picture Type: Image

Caption: Picture 2. Axial sonogram through the mid abdomen of a fetus shows
exteriorized bowel in relation to the anterior abdominal
wall. Multiple loops of bowel are depicted. Because the
bowel loops are not covered, they have irregular edges.
L indicates the liver.

Picture Type: Image

Caption: Picture 3. Axial sonogram through the mid-to-upper abdomen shows free-
floating exteriorized bowel in relation to the anterior
abdominal wall. S indicates the stomach; V, spine.

Picture Type: Image

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