Gastroschisis

Brith defect in abdominal wall

Gastroschisis is a birth defect in which an infant is born with some or all of his/her intestines on the outside of the abdomen due to an abnormal opening in the abdominal muscle. Young mothers who use recreational drugs early in pregnancy or who smoke have a higher risk of having an infant born with gastroschisis, but in many cases it is not known what causes the disorder. There is some evidence that gastroschisis may be inherited in an autosomal recessive pattern.

About 1 in 5,000 infants in the United States is born with gastroschisis, although studies suggest that the number of cases of gastroschisis is increasing both in the U.S. and worldwide. The disorder affects infants of all ethnic backgrounds.

Symptoms and diagnosis of gastroschisis

Testing the pregnant mother's blood for alpha-fetoprotein (AFP) will show an elevated level of AFP if gastroschisis is present. The disorder may also be detected by fetal ultrasound. Infants with gastroschisis usually have a 5 cm vertical opening in the abdominal wall to the side of the umbilical cord. Often a large part of the small intestine sticks out through this opening and lies on the outside of the abdomen. In some infants the large intestine and other organs may also come through the opening.

Infants with gastroschisis frequently have a low birth weight or are born prematurely. They may also have other birth defects such as underdeveloped bowels, or the gastroschisis may be part of a genetic disorder or syndrome.

Treatment

Many cases of gastroschisis can be corrected surgically. The abdominal wall is stretched and the intestinal contents gently placed back inside. Sometimes the surgery cannot be done right away because the intestines are swollen. In this case, the intestines are covered with a special pouch until the swelling goes down enough that they can be placed back inside the body.

Once the intestines are back inside the body, any other abnormalities can be treated. It takes several weeks for the bowels to begin to work normally. During that time, the infant is fed through a vein (called total parenteral nutrition). Some infants born with gastroschisis recover fully after surgery, but some may develop complications or require special formulas for feeding. How well the infant does depends upon any associated intestinal problems.

_Source:

"Gastroschisis." The Center for Fetal Diagnosis and Treatment. The Children's Hospital of Philadelphia. 26 Aug 2008

Yang, Ping, Terri H. Beaty, Muin J. Khoury, Elsbeth Chee, Walter Stewart, & Leon Gordis. "Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity." American Journal of Medical Genetics 44(2005): 668 - 675.