Gastroschisis is a relatively uncommon condition that occurs in approximately 1 in 5,000 live births. It is one of a group of birth defects known as abdominal wall defects, which occur very early in gestation and are characterized by an opening in the abdominal wall of the fetus.
Most cases of gastroschisis involve the intestine and other abdominal organs herniating (protruding) through an opening (hole) in the abdominal wall and spilling out into the amniotic fluid around the fetus. This opening is usually found to the right of the umbilicus (belly button). As a consequence, the unprotected intestine becomes irritated, causing it to swell and shorten.
The longer the exposure to amniotic fluid, the more severely the intestine can become damaged. In addition, as the fetus continues to develop, the tight opening may squeeze the blood supply to the intestine or cause it to twist around itself. Either of these consequences can cause intestinal blockage, loss or malfunction and lead to long-term feeding problems after the baby is born.
The diagnosis of gastroschisis is suspected after routine blood tests show abnormally high alpha fetoprotein levels. Gastroschisis is diagnosed by routine ultrasound in the second trimester when free-floating intestine is seen. A mother referred to The Center for Fetal Diagnosis and Treatment will undergo a comprehensive, one-day evaluation that includes a high-definition level II ultrasound to confirm the gastroschisis diagnosis and assess the intestine free-floating in amniotic fluid.
Gastroschisis is an abdominal wall defect in which parts of the intestines spill into the amniotic fluid through a hole in the abdominal wall.
© CHOP/CFDT For proper counseling and management, it is important to distinguish gastroschisis from other abdominal wall defects, such as omphalocele (a membrane-covered herniation of the abdominal organs into the base of the umbilical cord).
Gastroschisis occurs more often in babies born to younger mothers and the incidence of gastroschisis is increasing worldwide. While there is no specific known cause of gastroschisis, it does not appear to run in families and the recurrence risk is not higher in future pregnancies. Unlike other abdominal wall defects, such as omphalocele, gastroschisis is typically not associated with chromosomal abnormalities or other structural malformations with the exception of an intestinal blockage (atresia), which occurs in only about 10 percent of infants with gastroschisis.
After the ultrasound, the family meets with the high-risk obstetrician, pediatric surgeon and nurse coordinator who review test results, confirm the diagnosis, discuss options and potential outcomes and answer questions. The team develops a treatment plan tailored to the specific needs of the mother and fetus. Families also receive educational information about gastroschisis and tour the Garbose Family Special Delivery Unit (SDU) and Newborn/Infant Intensive Care Unit (N/IICU).
The remainder of the pregnancy will be closely monitored. Because the intestine is exposed to the amniotic fluid, it can become damaged. It is difficult to predict which babies are at risk for intestinal complications prenatally.
Pregnancies in which the fetus has gastroschisis are at risk for certain complications such as poor fetal growth, decreased amniotic fluid volume, preterm delivery and stillbirth. Our Center routinely monitors mothers starting at 28 to 32 weeks gestation with twice-weekly biophysical profiles and Doppler ultrasounds, keeping a close watch for signs of fetal distress.
If surveillance indicates issues with the pregnancy, our team is prepared to mobilize and move forward quickly to ensure the best outcome for mother and baby.
On average, spontaneous labor occurs around 36 weeks with gastroschisis. Most women deliver vaginally, unless there is a medical condition that necessitates a cesarean delivery or if the fetus is having difficulty before birth.
At CHOP, delivery of babies with gastroschisis takes place in the SDU, allowing for expert obstetric services for the mother and the highest level of immediate care for the newborn — all within the same pediatric hospital. The world’s first birth facility designed exclusively for pregnancies complicated by birth defects, the SDU is a vital part of our team’s ability to provide comprehensive care for mother, baby and the whole family.
After birth, the baby is immediately moved from the delivery room to an adjacent stabilization room, where breathing status is assessed, an IV is placed and a naso-gastric (NG) tube (a tube that runs through the nose) is placed to decompress the intestine — this prevents reflux of gastric contents into the lungs. Throughout, careful positioning of the baby is critical to maintain adequate blood flow to the intestine.
Repair of gastroschisis involves returning the extra-abdominal contents back into the abdominal cavity, followed by abdominal wall closure. This can either be performed with an immediate primary gastroschisis repair or, more commonly, a repair done in a series of steps (staged), depending upon postnatal assessment of the condition of the exposed intestine.
At the time of delivery, the exposed abdominal contents are placed in a moistened “bag” for the infant’s transfer to the N/IICU. The baby undergoes surgical repair immediately upon admission to the N/IICU. The intestine is returned to the abdominal cavity and the abdominal wall is closed during one procedure.
Prenatal exposure of the fetal intestines to the amniotic fluid can be associated with bowel dilation and inflammation, thus making primary repair unfeasible. If the amount of bowel outside the abdomen is especially large or dilated or if the baby’s condition is unstable, a staged (done in several steps) approach will need to be performed over an average of five to 10 days.
A staged gastroschisis repair is performed if the amount of intestine outside the abdomen is especially large, dilated or if the baby’s condition is unstable. A silastic pouch is placed around the herniated intestine, and reduced over 5-10 days. © CHOP/CFDT
Upon admission to the N/IICU, a spring-loaded silastic (silicone plastic) pouch, commonly referred to as a “silo,” is placed around the herniated bowel. The bowel is then slowly and gently pushed back down into the abdomen over the course of a few days.
The infant is then taken to the operating room where the silo is removed, and the opening in the abdomen is closed surgically. It is not uncommon for the baby to require breathing/ventilator assistance for a period of time after surgery.
After gastroschisis repair, it takes time for the intestine to recover and function to return. For this reason, first feedings are provided through an intravenous (IV) line. Once intestinal function returns, oral feedings or feedings via an NG tube are slowly started while IV feeds continue.
Pumping and freezing of breast milk is encouraged for feedings, because a mother's milk is particularly beneficial for infants with special medical needs. Oral feedings are slowly increased. This is a gradual process, and infants who have undergone gastroschisis repair might experience occasional setbacks, including the need to temporarily stop oral feeds to rest the intestine, or additional surgery.
When the baby can tolerate full feedings, whether oral, NG or a combination, with adequate weight gain, the baby is ready to go home. Prior to discharge, teaching of special feeding techniques or other specialized care will be provided to parents by the nursing staff.
The length of stay in the Hospital after gastroschisis repair varies, depending on a variety of factors:
After discharge from the Hospital, the baby will be closely monitored by his/her pediatrician and will periodically return to CHOP for appointments with the pediatric surgeon.
Close attention will be paid to the condition of the intestine and the baby’s growth. While long-term prognosis can be very good, babies who sustained more severe injury to the intestine will need to be followed more closely and may need a prolonged course of intravenous nutrition either at home or within the Hospital.
Updated: February 2012