Glossary of Diagnoses and Terminology

The answers you desire with the compassion you deserve. Here you will find comprehensive information about congenital anomalies — written for families experiencing the emotional complexities of the diagnosis.


Gastroschisis is a congenital defect of the abdominal wall which results in a hole located to the right of the belly button. The hole can vary in size, allowing the intestines, stomach, and/or liver to protrude through the opening. The estimated incidence rate for gastroschisis is 1 in 2,000 live births.

Gastroschisis is a distinct diagnosis from omphaloceles, which can vary in location. Unlike omphaloceles, gastroschisis always results in the abdominal organs being directly exposed to amniotic fluid. Unlike omphaloceles, gastroschisis is not typically associated with chromosomal abnormalities.

Gastroschisis can be detected via ultrasound as well as second trimester maternal serum screening. Gastroschisis is not a fatal condition; the prognosis is dependent on the condition of the bowel. However, gastroschisis is associated with other anomalies and complications such as congenital heart defects, additional gastrointestinal defects, intrauterine growth restriction (IUGR), and amniotic fluid abnormalities like oligohydramnios and polyhydramnios. Polyhydramnios is associated with an increased risk of preterm labor for cases of gastroschisis. Gastroschisis is associated with intrauterine fetal demise in the late second and third trimesters.

Gastroschisis occurs sporadically; but it is associated with young maternal age, and familial cases have been reported. The overall recurrence risk, taking into account genetic and environmental factors is 4%. Genetic counseling is recommended prior to subsequent pregnancies. [29]