Pediatric Omphalocele and Gastroschisis Clinical Presentation
- Author: James G Glasser, MD, MA, FACS; Chief Editor: Ted Rosenkrantz, MD more...
Infants with gastroschisis and omphalocele can be identified using prenatal ultrasonography. Defects in other organ systems may also be diagnosed, and chromosomal abnormalities may be discovered by amniocentesis. See Workup.
In an omphalocele, the diameter of the abdominal wall defect is 4-12 cm; it may be centrally located or in the epigastrium or the hypogastrium.
With a large omphalocele, dystocia may occur and result in injury to the baby's liver.
The omphalocele sac is ruptured in 10-20% of cases; rupture may occur in utero or during delivery.
Beckwith-Wiedemann syndrome features are as follows (see the image below):
Omphalocele (generally small)
Macroglossia and coarse, rounded facial features
Visceromegaly with hyperplasia of the pancreatic islet cells causing neonatal hypoglycemia, which may be severe
The components of the pentalogy of Cantrell are as follows (see the image below):
Anterior (retrosternal) diaphragmatic hernia of Morgagni
Giant omphalocele features are as follows:
Large, centrally located, abdominal wall defect
Ectopic liver, located outside of the abdominal cavity, within the omphalocele sac
Small, undeveloped abdominal and thoracic cavities
Restrictive lung disease and pulmonary hypoplasia are associated with the hypoplastic thoracic cavity
Operative closure is best accomplished in stages to avoid excessive intra-abdominal pressure 
The abdominal wall defect generally is uniform in size (≤5 cm) and constant in location (right of the umbilical cord).
The amount of inflammation of the extruded intestine varies. An inflammatory peel congealing the extruded intestines may or may not be present. Inflammation may so distort the appearance of the bowel that it is impossible to determine the anatomy or even whether an atresia is present. See the images below.
The caliber of the intestine and the distribution of meconium, and whether it can be evacuated through the anus, and whether succus entericus can be milked into the stomach and suctioned by anesthesia, are all factors that determine whether reduction of the extruded intestine and closure of the abdominal wall defect can be accomplished primarily, or whether a "silo" must be used.
When primary closure of the abdominal wall defect is not possible, a silo is created to contain the intestine until the inflammation has resolved and it softens and becomes pliable, usually within 1 week. Reduction can then be accomplished. Correction of intestinal atresia by either an anastomosis or an enterostomy is best delayed until closure of the abdominal cavity has been achieved.
Intestinal dysfunction, delaying the onset of feedings, may take 4-6 weeks to resolve.
When gastroschisis is identified antenatally, serial ultrasonography is performed to identify impending threats to the intestine. Concomitantly, amniocentesis is used to monitor lung maturity and determine when to induce labor.[20, 21, 22, 23, 24]
Characteristics of cloacal exstrophy include the following:
Bladder exstrophy with a central strip—plate of cecum—and prolapsed ileum
The presence or absence of a duplicated colon and appendix, colonic atresia, or imperforate anus
Myelodysplasia (tethered cord, myelomeningocele, hydromyelia, diastematomyelia)
Fetal uropathy with oligohydramnios and pulmonary hypoplasia
Compression abnormalities: Indented thorax, malformed digits, talipes (club foot), bowed limbs, and dislocated hips
See the images below.
Folic acid deficiency, hypoxia, and salicylates cause rats to develop abdominal wall defects, but the clinical significance of these experiments is conjectural.
Elevation of maternal serum alpha-fetoprotein (MSAFP) is associated with omphalocele and gastroschisis. An elevated MSAFP warrants ultrasonography to determine if structural abnormalities are present in the fetus. If the study is suspicious for an omphalocele, amniocentesis is indicated to determine any associated genetic abnormality.
Polyhydramnios occurs in association with intestinal atresia, which may complicate gastroschisis. If polyhydramnios is identified by fetal ultrasonography, the mother should be referred to a tertiary care facility for optimal care of her newborn.
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|Country||Time Period / Incidence||Time Period / Incidence|
|England and Wales||1987||1991|
|England and Wales||1995||2005|