Pediatric Omphalocele and Gastroschisis Workup

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

Elevation of maternal serum alpha-fetoprotein (MSAFP) is associated with abdominal wall defects.

MSAFP levels are greater in gastroschisis than in omphalocele.

MSAFP levels are also increased in spina bifida, which additionally increases the ratio of acetylcholinesterase and pseudocholinesterase. [14]


Imaging Studies

In utero ultrasonography may demonstrate a structural defect that is associated with a karyotypic abnormality. [27]

The suspicion that the baby has a genetic abnormality 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.