E383 Full PDF
E383 Full PDF
E383 Full PDF
Practice Gaps
Abdominal wall defects are a relatively common congenital anomaly
encountered in the pediatric population. These defects include 2 separate
pathologies, gastroschisis and omphalocele, with divergent pathophysiologic
origins, clinical manifestations, and management strategies. Although the
mode and timing of delivery is somewhat controversial, particularly for
gastroschisis, most of the evidence supports delivery at a high-volume tertiary
care center with immediate access to neonatal and pediatric surgical expertise.
Clinicians should be aware of a rare variant of gastroschisis, closing
gastroschisis, because early recognition and treatment may affect patient
outcomes, as well as complicated gastroschisis and giant omphalocele because
of the more challenging surgical considerations.
Abstract
The 2 most common congenital abdominal wall defects are gastroschisis and
omphalocele. Both are usually diagnosed prenatally with fetal ultrasonography,
and affected patients are treated at a center with access to high-risk obstetric
services, neonatology, and pediatric surgery. The main distinguishing features
between the 2 are that gastroschisis has no sac and the defect is to the right of
the umbilicus, whereas an omphalocele typically has a sac and the defect is at
the umbilicus. In addition, patients with an omphalocele have a high prevalence
of associated anomalies, whereas those with gastroschisis have a higher
likelihood of abnormalities related to the gastrointestinal tract, with the most
common being intestinal atresia. As such, the prognosis in patients with
omphalocele is primarily affected by the severity and number of other
anomalies and the prognosis for gastroschisis is correlated with the amount and
function of the bowel. Because of these distinctions, these defects have different
management strategies and outcomes. The goal of surgical treatment for both
conditions consists of reduction of the abdominal viscera and closure of the
abdominal wall defect; primary closure or a variety of staged approaches can be
used without injury to the intra-abdominal contents through direct injury or
AUTHOR DISCLOSURE Dr Slater is a increased intra-abdominal pressure, or abdominal compartment syndrome.
consultant for Boulder Surgical. Dr Pimpalwar Overall, the long-term outcome is generally good. The ability to stratify patients,
has no financial relationships relevant to this
article. This commentary does not contain a particularly those with gastroschisis, based on risk factors for higher morbidity
discussion of an unapproved/investigative would potentially improve counseling and outcomes.
use of a commercial product/device.
INTRODUCTION GASTROSCHISIS
The 2 most common congenital abdominal wall defects are Clinical Aspects
gastroschisis (Fig 1A) and omphalocele (Fig 1B). Both are Gastroschisis is usually less than 4 cm in diameter, has no
typically diagnosed prenatally using fetal ultrasonography, covering membrane or sac, and generally contains only
and affected patients are treated at a center with access to small intestine, potentially with the stomach or gonad. In
high-risk obstetric services, neonatology, and pediatric sur- almost all cases, it is present to the right of the umbilical
gery. In this review, we discuss the distinguishing features, cord. (5) After birth, the bowel may appear fairly normal or
current management strategies, and outcomes of patients may be thickened, matted, and covered with a fibrinous peel.
with these defects. In contrast to patients with omphaloceles, those with gastro-
schisis do not typically have associated congenital anomalies
but are more likely to have abnormalities of the bowel,
EPIDEMIOLOGY AND PATHOPHYSIOLOGY
including atresias. Many affected patients are born preterm
The incidence of congenital abdominal wall defects has and are often small for gestational age. Those with atresia,
been increasing, primarily because of the increased inci- perforation, necrosis, or volvulus fall into a separate category
dence of gastroschisis. (1) Gastroschisis occurs in 1 in called “complicated gastroschisis.”
approximately 4,000 live births (2) with a male preponder- Gastroschisis is commonly seen on mid-second trimes-
ance and has become the most common abdominal wall ter fetal ultrasonography with characteristics of a right-sided
defect over the past 30 years. (3) A strong association with defect with free-floating bowel in the amniotic cavity. There
young maternal age has been noted. The overall incidence of are a few ultrasonographic findings that raise the concern
omphalocele is 1 to 2.5 per 5,000 live births. (4) for intestinal complications; of these intra-abdominal bowel
An omphalocele results from the failure of the bowel dilation appears to be the most reliable predictor of complex
loops to return to the abdominal cavity after the physiologic gastroschisis. (6) In addition, elevated a-fetoprotein con-
herniation through the umbilical cord that occurs between centrations in both maternal blood and amniotic fluid have
the 6th and 11th week of development. Several mechanisms been correlated with gastroschisis.
have been proposed for the pathogenesis of gastroschisis. Closing or closed gastroschisis is a rare variant of com-
One theory is that the defect arises from failure of the plicated gastroschisis in which the defect narrows in utero,
umbilical coelom to develop, leading to rupture of the resulting in strangulation and subsequent ischemia of the
elongating intestine out of the body wall to the right of herniated bowel and atresia. The most severe cases can lead
the umbilicus. An alternative explanation is that the embry- to complete loss of the midgut with short gut syndrome
onic structures fail to incorporate into the umbilical cord. (Fig 2) The patient depicted was diagnosed with closing
In addition, experts suggest that several environmental gastroschisis and initially had complete atresia and signif-
exposures and demographic risk factors contribute to its icant bowel loss (Fig 2A and 2B). After exploration 6 weeks
development. later, the bowel had grown with significant progressive
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Figure 1. A. Picture of gastroschisis with no sac and the defect to the
right of the umbilicus. B. Picture of omphalocele with a sac present and
defect at the umbilicus.
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control study comparing sutureless versus sutured gastro- syndrome is suspected. Given this complication, the ap-
schisis closure found no difference in complications. (15) proach for the type of closure must be decided based on
Advantages of this method include the lack of need for conditions such as prematurity, abdominal domain, and
transport, potential avoidance of anesthesia, and improved degree of respiratory distress.
cosmetic result. Most series report a hernia rate of 60% to For patients with gastroschisis and an associated atresia
84%, of which most close spontaneously; with the wound or perforation, the management is more complex. Care of
vacuum closure, the hernia rate is much lower. (16) Non- these infants must be individualized based on their gesta-
absorbable mesh or biosynthetic patches can also be used tional age, weight, and clinical status as well as the length
for closure when primary fascial closure cannot be achieved. and condition of the bowel. The possible techniques include
Abdominal compartment syndrome can be a complica- primary anastomosis with closure if the bowel is in good
tion after reduction of the bowel. Intra-abdominal pressures condition; creation of stomas with closure; or reduction of
greater than 15 to 20 mm Hg indicate compartment syn- unrepaired bowel into the abdomen with closure and repeat
drome. This pressure can be determined with the use of surgery for establishment of bowel continuity in the future.
intragastric or intravesical catheters. Concerning signs also Postoperatively, it is common to have delayed recovery of
include increased peak or mean inspiratory pressures, need bowel function as a result of abnormal intestinal motility,
for vasopressor support, or metabolic acidosis. Immediate which is frequently observed in these patients. During this
decompressive laparotomy or release of the closure with silo period of dysmotility, gastric decompression and parenteral
placement should be undertaken if abdominal compartment nutrition should be provided until enteral feedings are
Figure 4. A. Picture demonstrating serial reductions with umbilical ties until at the level of the fascia. B. Complete reduction of gastroschisis. C. Adhesive
tape and wound vacuum applied to gastroschisis. D. Picture after wound vacuum removed, demonstrating closure. E. Picture of abdomen 6 weeks
after surgery.
OMPHALOCELE
Clinical Aspects
Omphalocele is a large defect, usually greater than 4 cm,
covered by an amniotic membrane, which contains intes-
tines and other abdominal organs including the liver and
often the spleen and gonad. (5) Patients with an omphalocele
often have other congenital anomalies, chromosomal abnor-
malities, or syndromes. In addition, omphaloceles can be
combined with pentalogy of Cantrell, cloacal exstrophy, and
the rare omphalocele, exstrophy of the bladder, imperforate
anus, and spinal anomaly (OEIS) complex.
Infants with an omphalocele are typically diagnosed
prenatally. The fetal ultrasound characteristics include a
contained herniation in a membranous sac. Additional
associated anomalies may also be identified on prenatal
ultrasonography; however, up to one-third of patients with
isolated defects are found to have other abnormalities
postnatally.
A giant omphalocele contains liver and has a defect of at
least 5 to 10 cm in diameter. In addition to an underdevel-
oped abdominal wall cavity, these patients commonly have
pulmonary hypoplasia as well. Giant omphaloceles are
associated with a high morbidity and mortality rate. The
operative treatment for these patients is also challenging.
(21)
Management
Most patients with an omphalocele are born at term gesta-
tional age. Some experts advocate for cesarean delivery if Figure 5. A. Primary closure of a large omphalocele with placement of
there is an extra-abdominal liver to avoid hepatic injury mesh. B. Reduction of contents. C. Complete closure in 5 days.
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weight, and the existence of associated anomalies. In a
stable patient with a small defect, primary repair with sur-
gical closure may be possible. The sac may be removed or
inverted before fascial closure. If the sac is adherent to the
liver, some defects may need to be left in place to avoid liver
injury and hemorrhage. However, more commonly, because
of the size of the defect, loss of domain of the peritoneal
cavity, or instability of the infant, primary closure is not
possible, and various techniques are used for coverage and
closure. Staged or delayed closure (Fig 5 and Fig 6) of the
defect is typically used. Eschoratic therapy, sometimes
referred to as the “paint and wait” technique, is often used,
in which a topical agent, most commonly silver sulfadiazine,
is applied to the sac daily. It creates a gradual eschar with
subsequent epithelialization, leaving a ventral hernia. This
process takes weeks to months to complete and may be
combined with compressive dressings once the sac is thick
Figure 6. Delayed closure technique used for a large omphalocele
enough to slowly reduce the contents into the abdomen. after painting with silver sulfadiazine demonstrating complete
Later closure may involve mobilization of skin flaps, com- epilethialization after 8 months.
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1. A woman presents for antenatal ultrasonography at 20 weeks’ gestation. The fetus is noted REQUIREMENTS: Learners
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gastroschisis? assessment. If you score
A. Large for gestational age. less than 60% on the
B. Congenital anomalies of the heart and brain. assessment, you will be
C. A defect that is almost always larger than 10 cm. given additional
D. Abnormalities of the bowel such as an atresia. opportunities to answer
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