NORD gratefully acknowledges Mariebelle Elkhoury, NORD Editorial Intern from the Massachusetts College of Pharmacy and Health Sciences, and Marcia L. Feldkamp, PA, MSPH, PhD, Department of Pediatrics, Division of Pediatric Genetics, University of Utah School of Medicine, for assistance in the preparation of this report.
Gastroschisis is a rare defect apparent at birth in which the intestines protrude through the right side of the umbilical ring with an intact umbilical cord on the left side. Gastroschisis can be detected by a routine prenatal ultrasound during a mother’s pregnancy, usually around 18-20 weeks gestation. While the exact cause is unknown, the most likely explanation is that gastroschisis follows a multifactorial inheritance, such that multiple genes and environmental factors acting together cause the abnormality. Treatment is a surgery that slowly returns the intestines to the abdomen (silo repair).
The name gastroschisis is derived from two words. Gastro meaning related to the stomach. Schisis, is a Greek term, meaning separation. Translating gastroschisis it would suggest the separation of the stomach, but in reality it is not the stomach that separates but likely the amnio-ectodermal connection at the right edge of the umbilical ring.
Gastroschisis is apparent at birth and can also be detected prenatally with ultrasound. Infants with this disorder have a 2-5 cm opening within the umbilical ring in which abdominal organs appear on the outer surface of the abdomen. The abdominal cavity is smaller than normal and the extruded intestines and other organs have no membranous sac covering it. This opening is typically found to the right, adjacent to the umbilical cord (belly button) attached on the left side. The stomach, small intestine and large intestine are the most common organs that extend outside the abdomen.
The intestines may look swollen, inflamed, thickened, short and covered with a thick fibrous peel due to exposure to the liquid that surrounds the fetus during pregnancy (amniotic fluid). Twisting (malrotation) of the bowel is present and the exposed bowel is at risk for obstruction leading to decay and interruption of the blood supply due to the small size of the defect.
Bowel function is delayed in most infants due to malabsorption and deficient movement (hypomotility). Absence or closure (atresia) of intestines and other gastrointestinal tract abnormalities occur in as many as 10% of infants with gastroschisis.
Other medically related issues with this disorder may be infection, dehydration, and dangerously low body temperature (hypothermia).
Some children with gastroschisis may have other health problems such as shorter intestines, slow growth before birth, prematurity, or heart abnormalities.
The exact mechanism of gastroschisis is not known, however several theories have been suggested.
Most recently, it has been proposed that gastroschisis is a midline defect of the primordial umbilical ring based on findings in human fetuses and newborns. As early as 35 days post conception after merging of the two body stalks, the amnio-ectodermal junction is either not intact on the right side or it later separates permitting the bowel and other organs to extrude. This hypothesis is based on detailed clinical evaluation of human fetuses in additional to our current understanding of the evolution of amniotes and developmental biology.
Several families have been reported in which gastroschisis has occurred in siblings or distantly related affected children within multigenerational pedigrees. Different studies suggest that gastroschisis may follow an autosomal recessive or dominant inheritance pattern in some families.
Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
Chromosomal or genetic abnormalities have not been consistently reported as a cause of gastroschisis. The most likely explanation is that isolated gastroschisis follows a multifactorial inheritance, such that multiple genes or a genetic susceptibility in combination with an environmental factor act together to cause the abnormality. The two most consistent risk factors for gastroschisis are maternal age (highest risk in the youngest population of women, less than 20 years of age) and maternal exposure to cigarette smoke. In addition, five studies have reported that maternal genitourinary tract infections increase the risk for gastroschisis.
Changes (mutations) in several genes (ICAM1, NOS3, and NPPA.) have been associated with an increased risk for gastroschisis. These results are considered preliminary and more research is needed to determine if these mutations can cause gastroschisis.
As of 2015, this condition is estimated to affect about 2 to 5 per 10,000 newborns. The Centers for Disease Control and Prevention (CDC) estimates that there are about 1,871 babies born with gastroschisis in the United States each year.
Gastroschisis can be diagnosed by prenatal ultrasound or upon birth. It is differentiated from omphalocele by the presence of freely floating abdominal organs in the amniotic cavity without a membranous covering. The organs appearing on the outer surface of the abdomen, after delivery, confirms the diagnosis.
Women with pregnancies in which gastroschisis has been prenatally diagnosed should be delivered at a tertiary care center where neonatal and pediatric surgical care is available.
Surgery is needed to close the abdominal defect and slowly return the intestines to the abdomen (silo repair). After the organs have all been put back in the belly, the hole is closed. Prior to and after surgery, infants are fed through an IV line and are slowly introduced to normal feeding (total parenteral nutritional feedings). This allows the infant to receive adequate nutrition since it takes time for their bowel function to normalize.
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Gastroschisis. Genetic and Rare Diseases Information Center. Last updated: 11/21/2016. https://rarediseases.info.nih.gov/diseases/8661/gastroschisis Accessed November 29, 2018.
Abdominal wall defect. Genetics Home Reference. Reviewed: August 2016. https://ghr.nlm.nih.gov/condition/abdominal-wall-defect Accessed November 29, 2018.
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