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Gastroschisis is a birth difect that occurs while a fetus is still in the early stages of development. A small opening in the abdominal wall allows the stomach and small and large intestines to stick out outside the body. Rather than following the normal course of development, the abdominal wall ruptures, usually on the right side of the umbilicus, or navel. The intestine then extends through the opening. Unprotected by the abdominal wall, the intestine is exposed to amniotic fluid in the womb. It becomes irritated, causing it to swell and shorten. The longer the exposure to amniotic fluid, the more severely the intestine can become damaged.
As the fetus grows bigger, the tight opening may squeeze the blood supply to the intestine and/or the bowel may twist around itself. Either or both of these problems can lead to poor intestinal function and long-term feeding problems after the baby is born.
Gastroschisis is relatively uncommon, occurring in only about one of 5,000 births. About 10 percent of infants with gastroschisis also have an intestinal atresia in which a portion of the intestine does not develop, but gastroschisis is hardly ever associated with other illnesses.
Gastroschisis can be seen as early as 14 weeks into a pregnancy; it is often diagnosed long before the baby is born. The mother can be tested for elevated alpha-fetoprotein (AFP). This is a substance produced by the fetus that is found in fetal serum, amniotic fluid, and the mother's bloodstream. When the mother's levels are elevated, it may mean that the baby is losing some from his or her body. The obstetrician searches for defects with a highly detailed ultrasound; an ultrasound image of a fetus with gastroschisis shows loops of intestines floating freely in amniotic fluid. More frequent ultrasounds are then used to monitor the fetus.
Once the diagnosis is made, most parents plan to deliver the baby in a hospital with a neonatal intensive care unit, where he or she can receive special care. A Caesarian delivery may be advised at about 36 weeks of pregnancy, if the baby's lungs are mature enough. (The maturity of the lungs is also shown on ultrasound tests.) The early delivery helps prevent further irritation of the intestine. Gastroschisis surgery will be done as soon as the infant's condition is stabilized, usually within 12 to 24 hours after delivery.
When babies have only a small amount of intestine outside the abdominal wall, one operation can often correct the problem. About two-thirds of gastroschisis patients fall into this category. The surgeons simply return the intestine to the abdominal cavity and close the hole.
If the amount of bowel outside the abdomen is large or if the baby's condition is unstable, the surgery for the gastroschisis may need to be staged (done in several steps) over three to ten days. A Silastic (silicone plastic) pouch is first placed over the baby's exposed bowel and anchored to the surrounding muscle. Each day, the pouch is tightened to push the intestine back into the abdominal cavity. When the intestine is back in its proper place within the abdomen, the pouch is removed and the opening is surgically closed. Some babies may need the help of a breathing machine (ventilator) during this time.
In most babies, the long-term prognosis is very good. However, some babies may develop a condition known as short gut. These babies usually have sustained injuries to the bowel due to direct contact between the intestines and amniotic fluid, or due to the intestine being twisted or damaged in some way during fetal development or delivery. Diarrhea, slow weight gain, and deficiencies of essential vitamins and minerals characterize this condition. Babies with short gut may require a prolonged course of intravenous nutrition (total perenteral nutrition, or TPN) delivered at the hospital or at home, and will need to be closely monitored by a pediatric surgeon, pediatric gastroenterologist, and primary care physician.
Learn more about Intestinal Transplant Disease States.
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Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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