The Symptoms and Diagnosis of Gastroschisis

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. The opening can range from small to large, and in some cases, other organs can also protrude through the hole.

Female doctor examining newborn baby in incubator
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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 

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.


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 on any associated intestinal problems.

Support for Gastroschisis

Numerous support groups and other resources are available to help with the emotional and financial strain of carrying a baby with gastroschisis. These include:

  • Mothers Of Omphaloceles (MOOs): Omphalocele Support Group and Webring
  • Avery’s Angels Gastroschisis Foundation: Provides emotional and financial support to families who have babies born with gastroschisis
  • IBDIS: International Birth Defects Information Systems information on Gastroschisis and Omphalocele.
  • March of Dimes: researchers, volunteers, educators, outreach workers, and advocates working together to give all babies a fighting chance
  • Birth Defect Research for Children: a parent networking service that connects families who have children with the same birth defects
  • Kids Health: doctor-approved health information about children from before birth through adolescence
  • CDC: Birth Defects: Dept. of Health & Human Services, Centers for Disease Control and Prevention
  • NIH: Office of Rare Diseases: National Inst. of Health - Office of Rare Diseases
  • North American Fetal Therapy Network: NAFTNet (the North American Fetal Therapy Network) is a voluntary association of medical centers in the United States and Canada with established expertise in fetal surgery and other forms of multidisciplinary care for complex disorders of the fetus.
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Article Sources
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  • "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.