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Clinical Presentation
Gastroschisis represents a congenital defect characterized by a defect in the anterior
abdominal wall through which the intestinal contents freely protrude. Unlike the
omphalocele, there is no overlying sac and the size of the defect is much smaller (<4 cm).
The abdominal wall defect is located at the junction of the umbilicus and normal skin, and is
almost always to the right of the umbilicus (Fig. 38-31). The umbilicus becomes partly
detached, allowing free communication with the abdominal cavity. The appearance of the
bowel provides some information with respect to the in utero timing of the defect. The
intestine may be normal in appearance, suggesting that the rupture occurred relatively late
during the pregnancy. More commonly, however, the intestine is thick, edematous,
discolored, and covered with exudate, implying a more long-standing process.
Gastroschisis in a newborn. Note the location of the umbilical cord, and the edematous,
thickened bowel.
Unlike infants born with omphalocele, associated anomalies seen with gastroschisis consist
mostly of intestinal atresia. This defect can readily be diagnosed on prenatal ultrasound (Fig.
38-32). There is no advantage to performing a cesarean section over a vaginal delivery. Even
though the thickness of the peel on the surface of the bowel indicates that a shorter
gestational time would be less injurious, there is no benefit to early versus late delivery.
FIG. 38-32.
Prenatal ultrasound of a fetus at 30 weeks' gestation with a gastroschisis. Arrows point to the
bowel outside within the amniotic fluid.
Treatment
All infants born with gastroschisis require urgent surgical treatment. In many instances, the
intestine can be returned to the abdominal cavity, and a primary surgical closure of the
abdominal wall is performed. Techniques that facilitate primary closure include mechanical
stretching of the abdominal wall, thorough orogastric suctioning with foregut decompression,
rectal irrigation, and evacuation of all meconium. Care must be taken to prevent increased
abdominal pressure during the reduction, which would lead to compression of the inferior
vena cava, respiratory dysfunction, and result in abdominal compartment syndrome. To avoid
this complication, it is helpful to monitor the bladder or airway pressure during reduction. In
infants whose intestine has become thickened and edematous, it may be impossible to reduce
the bowel into the peritoneal cavity in the immediate postnatal period. Under such
circumstances, a plastic spring-loaded silo can be placed onto the bowel and secured beneath
the fascia. The silo covers the bowel and allows for graduated reduction on a daily basis as
the edema in the bowel wall decreases (Fig. 38-33). Surgical closure can usually be
accomplished within approximately 1 week. A prosthetic piece of material (e.g., GoreTex or
Surgisis) may be required to bring the edges of the fascia together. If an atresia is noted at the
time of closure, it is prudent to reduce the bowel at the first operation, then to return after
several weeks once the edema has resolved to correct the atresia. Intestinal function does not
typically return for several weeks in patients with gastroschisis. This is especially true if the
bowel is thickened and edematous. As a result, these patients will require central line
placement and institution of total parenteral nutrition in order to grow.
FIG. 38-33.
Use of a silo with a gastroschisis to allow the bowel wall edema to resolve and to facilitate
closure of the abdominal wall.
Gastroschisis
Gastroschisis occurs with an incidence rate of 1 in 3,000 to 8,000 live births, and for
unknown reasons, the incidence rate is increasing. Infants with gastroschisis tend to be born
prematurely, have lower birth weights, and have younger mothers.1,2 Familial cases of
gastroschisis have been reported and are distinctly rare.3 Associated congenital anomalies are
uncommon and occur in about 10% of cases, most commonly intestinal atresia or stenosis.
These anomalies are thought to reflect mechanical or vascular compromise to the herniated
bowel. Rarely, infants with gastroschisis have complete loss of small bowel secondary to in
utero volvulus
The pathophysiology of gastroschisis remains unknown. In normal fetal development, there
are two paired umbilical veins; as the intestine returns to the abdominal cavity through the
umbilicus, the right umbilical vein undergoes resorption, leaving the left umbilical vein
intact. Weakness of the umbilical membrane at the site of umbilical vein resorption may
evolve into a hernia, and, in the case of membrane rupture, evisceration of the intestine
through the defect may occur. This explanation is consistent with the clinical observation that
the abdominal wall defect in gastroschisis almost always is located to the right of the
umbilicus. With the advent of routine antenatal ultrasonography, the sequential development
of a typical gastroschisis has been documented as a consequence of a ruptured hernia of the
umbilical cord in utero.4 Therefore, this observation suggests that gastroschisis is an isolated
mechanical defect of the developing umbilical cord rather than a global defect in
embryogenesis.
The amount of bowel eviscerated in gastroschisis can be extensive because the bowel has not
undergone complete mesenteric rotation and fixation. Typically, the bowel is thickened and
the mesentery may be foreshortened secondary to the inflammatory response induced by
direct exposure to amniotic fluid. Given the typical small size of the abdominal wall defect,
herniation of the liver in gastroschisis is distinctly unusual (Fig. 110.1).
Omphalocele
Anatomy, Embryology, and Pathophysiology
The incidence rate of omphalocele is estimated to be 1 in 6,000 to 10,000 live births and has
been stable over the past several decades. Omphalocele is an abdominal wall defect of
varying size that is characterized by the presence of herniated visceral contents into a
translucent sac. The sac is composed of amniotic membrane, mesenchymal tissue known as
P.1879
Wharton's jelly, and peritoneum. The umbilical cord typically attaches to the sac and may be
eccentric in origin (Fig. 110.2). The sac may be inadvertently ruptured before or during
delivery, but it is always present. Similar to gastroschisis, intestinal malrotation is present.
Unlike gastroschisis, the bowel is typically normal in appearance because it has not been
directly exposed to the amniotic fluid. Small omphaloceles are typically abdominal wall
defects 2 to 5 cm in diameter and may have only a small amount of herniated bowel within
the sac. Giant omphaloceles larger than 10 cm in diameter can lead to massive and extensive
herniation of the stomach, bowel, liver, and spleen, with subsequent underdevelopment of the
abdominal cavity (Fig. 110.3).
Omphalocele is a result of incomplete closure of the anterior abdominal wall at the umbilicus
during embryogenesis. During week 4 of gestation, the midgut undergoes progressive
elongation in the yolk sac outside the embryonic coelomic cavity. The midgut returns to the
abdominal cavity during week 10 of gestation, where it undergoes normal rotation and
fixation of its mesentery to the posterior abdominal wall. Normal closure of the anterior
abdominal wall requires return of the midgut to the abdominal cavity, along with growth and
fusion of the anterior body folds (cephalic, caudal, and two lateral) at the base of the
umbilicus. Failure of growth, migration, or fusion of the lateral body folds leads to
omphalocele. Failure of growth and fusion of the cephalic folds may lead to either a
supraumbilical omphalocele associated with a midline sternal defect and a herniated heart,
termed ectopia cordis, or a constellation of defects known as the pentalogy of Cantrell.5 This
sequence includes a sternal cleft, an absence of the septum transversum of the diaphragm, a
pericardial defect, a cardiac defect, and an epigastric omphalocele (Fig. 110.4). Infants born
with either ectopia cordis or pentalogy of Cantrell have significant morbidity, and often these
conditions are lethal. Associated anomalies are much more common in infants with
omphalocele than with gastroschisis, reflecting the more global abnormality of
embryogenesis in omphalocele compared with the simple mechanical defect in gastroschisis.
About 50% to 60% of infants with omphalocele have at least one associated congenital
anomaly.6,7 These infants are at moderate to high risk for anomalies of the skeleton,
gastrointestinal tract, nervous system, genitourinary system, and cardiopulmonary system. In
addition, infants with omphalocele have a higher incidence of chromosomal abnormalities
and other conditions, such as Beckwith-Wiedemann syndrome. A comparison of gastroschisis
and omphalocele is summarized in Table 110.1.
Perioperative Management for Gastroschisis and Omphalocele
In the absence of fetal distress, whether elective cesarean section improves neonatal outcome
in infants with gastroschisis or omphalocele remains controversial.8,9 Some investigators
advocate elective delivery of infants with gastroschisis following the establishment of lung
maturity. A prospective study that alternated vaginal delivery with elective cesarean section
for infants with gastroschisis demonstrated no significant differences in outcome.10 To
prevent birth-related hepatic injury, cesarean section is preferable for prenatally diagnosed
infants with giant omphaloceles.
After delivery, infants with either gastroschisis or omphalocele have similar initial
management priorities. Attention must be given to the establishment of an adequate airway
with effective ventilation and oxygenation. The infant should be maintained under either an
external warmer or a humidified incubator. A nasogastric or orogastric sump tube should be
inserted early and placed on suction to prevent further intestinal distention. The herniated
viscera should be covered with warm, saline-soaked gauze and covered with plastic wrap to
prevent further contamination; this maneuver also helps to prevent hypothermia and volume
depletion. Alternatively, the infant's entire lower torso can be placed inside a plastic bowel
bag. Regardless of the method, the initial therapeutic goal is to provide rapid, effective
temporary coverage of the viscera. Adequate support of the herniated viscera must be
provided to prevent intestinal ischemia. With large omphaloceles, the position of the infant's
liver and viscera may impair venous return from the inferior vena cava when the infant is
supine, and these infants may preferentially require a left-side-down position to maintain
hemodynamic stability. An intravenous catheter should be placed early, and 10% intravenous
dextrose, along with broad-spectrum antibiotics, should be administered. Infants with
gastroschisis may have higher intravenous fluid requirements secondary to the inflammatory
nature of the intestine. If the infant is not delivered at a center where definitive surgical care
can be provided, urgent transport should be arranged
Given the high incidence of associated anomalies, infants with an intact omphalocele should
undergo diagnostic investigation preoperatively, guided by the clinical presentation and
physical examination of the infant. These studies include a chest film, echocardiogram, and
renal ultrasound, in addition to baseline blood work. Until the decision is made with respect
to the timing and method of repair, the omphalocele should remain covered and protected
with a dressing. If the omphalocele is ruptured or torn, immediate closure or coverage is
necessary.
Once the infant has been stabilized and assessment for other anomalies is complete, the infant
is taken to the operating room for correction of the abdominal wall defect. Reduction of the
herniated viscera with primary fascial closure of the abdominal wall is an achievable goal in
approximately 60% to 70% of infants with either gastroschisis or omphalocele. Gentle but
definitive stretching of the abdominal wall is performed, and proximal decompression of the
bowel is maintained with nasogastric or orogastric decompression. The defect may require
enlargement to evaluate fully the intestinal tract. With omphalocele, the sac is usually
resected. The limiting factor in primary closure of an abdominal wall defect is the increased
intraabdominal pressure generated by the reduction of the herniated viscera. Increased
intraabdominal pressure can lead to a clinical situation known as abdominal compartment
syndrome. Features of neonatal abdominal compartment syndrome include impaired venous
return caused by compression of the inferior vena cava, reduction of sphlanic blood flow
leading to mesenteric ischemia, and respiratory compromise secondary to impaired
diaphragmatic excursion. Intraoperative measurement of intragastric or intravesical pressure,
end-tidal CO2, or central venous pressure may be helpful in determining the safety of primary
abdominal wall closure.11 If the herniated viscera cannot be reduced primarily, a Silastic
pouch or silo is constructed and daily partial reduction of the silo is performed. This
technique allows more gradual reduction of the herniated viscera into the abdominal cavity,
and complete reduction usually is obtained within 3 to 7 days. The infant then can return to
the operating room for removal of the temporary silo with delayed primary closure of the
abdominal wall defect (Fig. 110.5). Staged closure of gastroschisis using commercially
available Silastic silos has been reported to decrease the risk of long-term bowel dysfunction
and need for reoperation by avoiding abdominal compartment syndrome.12 Alternatively, a
large abdominal wall defect may be covered with abdominal skin flaps with delayed repair of
the ventral hernia months to years later.
Infants with giant omphaloceles may also be managed nonoperatively. The sac can be
physically supported and left intact, allowing epithelialization of the sac over several weeks
to months. Antibiotic solutions or ointments are usually applied to control desiccation.
Delayed repair of the ventral hernia is required. This delay is particularly useful in the infant
with a giant omphalocele and a small, underdeveloped abdominal cavity that prohibits
primary closure.
Infants with repaired omphalocele usually have relatively prompt return of bowel function
after definitive repair. In comparison, nearly all infants with gastroschisis have a delay in
intestinal function following closure. The use of total parenteral nutrition (TPN) is essential
in the treatment of these infants because it allows nutritional support while the bowel
inflammatory process resolves. It is not unusual for these infants to require up to 4 weeks
after repair to have bowel function normalize, and time taken to achieve full enteral feeding is
not affected by the use of erythromycin as a prokinetic agent.13 Approximately 15% oinfants
with gastroschisis develop necrotizing enterocolitis (NEC), a diffuse, often life-threatening
inflammatory complication of the neonatal intestinal tract.14 In addition, infants with
gastroschisis are at risk for nutrient malabsorbtion and intestinal dysmotility with inability to
tolerate full enteral feeding. This latter situation can evolve into a long-term condition termed
pseudoobstruction and may require long-term, sometimes lifelong, dependence on TPN for
caloric intake.
Long-term outcome of infants operated on for gastroschisis or omphalocele is usually
dependent on the morbidity and mortality of associated conditions rather than the abdominal
wall defect itself. Surgical conditions such as undescended testicles, Meckel's diverticulum,
and adhesive small bowel obstruction are encountered with moderate frequency. Most
children with repaired abdominal wall defects enjoy satisfactory health and quality of life,
although they have been reported to have a lower degree of physical fitness measured by
exercise time and maximal oxygen consumption.15
Mulholland M, Lillemoe K, Doherty G,et al. 2006. Greenfields Surgery Scientific Principles
and Practice. Fourth Edition. Lippincontt Williams & Wilkins. Chapter 110.
Omphalocele
The abdominal contents with an omphalocele are covered with a membrane composed of the
peritoneum on the inside and amnion on the outside. The size of the defect is variable,
ranging from a small opening through which a small portion of the intestine is herniated to a
large one in which the entire bowel and liver are included. In contrast with gastroschisis,
karyotype abnormalities are present in roughly 30% of infants, including trisomies 13, 18,
and 21. More than half of infants with omphalocele have other major or minor
malformations, with cardiac being the most common, followed by musculoskeletal,
gastrointestinal, and genitourinary. There is also a close association with BeckwithWiedemann syndrome (omphalocele, hyperinsulinemia, and macroglossia
Preoperative Evaluation and Management
Gastroschisis
In contrast to patients with an omphalocele, the risk for associated anomalies with
gastroschisis is low. One major exception to this general rule is the association of
gastroschisis with intestinal atresia, which may be present in up to 15%. Atresias may involve
the small and large intestine. The cause of gastroschisis is presently unknown, but a
prevailing theory is that it results from an abdominal wall defect associated with normal
involution of the second umbilical vein. In addition, babies with gastroschisis are more often
small for gestational age and born to mothers with a history of cigarette, alcohol, and
recreational drug use and intake of aspirin, ibuprofen, and pseudoephedrine during the first
trimester; there is also an 11-fold increase in risk in mothers younger than 20 years.
The surgical management of gastroschisis is similar to omphalocele. Considerations for thirdspace fluid losses from the exposed intestine and risk for infection dictate more expedient
coverage. The presence of atresia in a patient with gastroschisis may be managed in a number
of ways. The bowel can simply be placed into the abdomen with a planned reoperation after
several weeks. Another approach would be to perform a proximal diverting stoma. Finally, a
primary anastomosis may be attempted. This is rarely advised because of the possibility of
other atresias as well as the overall condition of the bowel.
In patients with gastroschisis, the intestine is often thickened, edematous, matted together,
and foreshortened. It is unclear whether this represents damage from the amniotic fluid or
ischemia from the small, constricting abdominal wall defect. The short gut syndrome may be
a consequence of the attenuated intestinal length. Even with adequate length, the remnant
bowel may be damaged to the point that motility, digestion, and absorption are markedly
impaired. This prenatal intestinal injury accounts for most of the postoperative morbidity and
mortality. Virtually all infants have a prolonged postoperative ileus. Parenteral nutrition is
lifesaving but is also associated with the development of cholestasis, cirrhosis, portal
hypertension, and ultimate liver failure.
Townsend, Beauchamp, Evers, Mattox. 2007. Sabiston Textbook Of Surgery. The Biological
Basis Of Modern Surgical Practice. Chapter 71. Pediatric Surgery. Section XII. Elsevier Inc