Pediatric Omphalocele and Gastroschisis (Abdominal Wall Defects) Differential Diagnoses

Updated: Nov 05, 2019
  • Author: James Goodwin Glasser, MD, MA, FACS; Chief Editor: Dharmendra J Nimavat, MD, FAAP  more...
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DDx

Diagnostic Considerations

The presence of an abdominal wall defect is immediately obvious; however, an exactitude in diagnosis may prove to be more challenging, and treatment may be exceedingly complex and involve multiple specialists.

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

The association of chromosomal defects with omphalocele varies between 10% and 50%. Trisomy 12, 13, 15, 18, and 21, as well as Beckwith-Wiedemann syndrome are the most frequently encountered genetic abnormalities.

Genetic abnormalities occur infrequently in babies with gastroschisis; however, these infants must contend with malabsorption, intestinal dysmotility, gastroesophageal reflux disease and, occasionally, Hirschsprung disease.

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

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

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

Educate parents about their infant'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.