Pediatric Omphalocele and Gastroschisis Differential Diagnoses

Updated: Feb 06, 2017
  • Author: James G Glasser, MD, MA, FACS; Chief Editor: Ted Rosenkrantz, MD  more...
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Diagnostic Considerations

Note that ventral body-wall defects are immediately obvious. However, although the diagnosis is simple, treatment of these defects is complex.

Omphalomesenteric duct remnants, occasionally associated with intestinal atresia, occur in babies with umbilical cord hernias, in which the abdominal wall defect is less than 4 cm.

The association of chromosomal abnormalities with omphalocele is 10-50%. This includes trisomy 12, 13, 15, 18, and 21 and Beckwith-Wiedemann syndrome.

Genetic abnormalities rarely occur in babies with gastroschisis, but the clinical course of these infants is frequently complicated by malabsorption and intestinal dysmotility, gastroesophageal reflux disease, and occasionally Hirschsprung disease.

Special concerns

With the increased availability of ultrasonography, prenatal diagnosis is made more frequently.

When an omphalocele is diagnosed, further workup is indicated to determine whether an associated genetic abnormality is present.

When gastroschisis is diagnosed, serial ultrasonography should be performed to detect signs of intestinal injury, including decreased peristalsis or bowel distension.

Parents should be educated about the baby's anomaly before delivery. Optimal management requires that the obstetrician anticipates the needs of the baby and ensures that delivery occurs in a facility where neonatology, pediatric anesthesia, and pediatric surgery consultation is available.