Pediatric Omphalocele and Gastroschisis (Abdominal Wall Defects) Workup

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

Laboratory studies

Elevation of maternal serum alpha-fetoprotein (MSAFP) is associated with abdominal wall defects. MSAFP levels are higher in gastroschisis than in omphalocele, and they are also increased in spina bifida, which additionally increases the ratio of acetylcholinesterase and pseudocholinesterase. [6]

Imaging studies

In utero ultrasonography may demonstrate a structural defect that is associated with a karyotypic abnormality. [38] If a genetic abnormality is suspected in the infant, it should be confirmed with amniocentesis.

Fetal echocardiography may identify a cardiac abnormality.

If serial ultrasonography shows dilatation and thickening of the intestine in a baby with gastroschisis, delivery should occur as soon as amniocentesis demonstrates lung maturity.

Appropriate tests to determine other congenital anomalies should precede surgical intervention in infants with omphaloceles.

See the Medscape Drugs and Diseases topics Gastroschisis Imaging and Omphalocele Imaging.