Center for Fetal Diagnosis and Treatment

Gastroschisis

Overview

Gastroschisis is one of a group of birth defects known as ventral wall defects, which involve the abdominal (belly) area of the fetus. Gastroschisis causes the fetal bowel to extend freely in the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus (belly button). The diagnosis of gastroschisis is usually made by ultrasound, in many cases following an elevated maternal serum alpha-fetoprotein test in the second trimester.

Most cases of gastroschisis involve the small intestine and a portion of the large intestine spilling out into the amniotic fluid space around the fetus.
Fetal ultrasound showing bowel protruding from abdominal wall defect.
View larger image »As a consequence of the herniation, the unprotected bowel may be damaged and not function well after delivery.

Gastroschisis occurs in approximately 1 in 5,000 live births and occurs more often in babies born to younger mothers (usually under 20 years of age). There is no specific known cause. Unlike other abdominal wall defects such as omphalocele, gastroschisis is typically not associated with chromosomal anomalies or other structural malformations with the exception of intestinal atresia (blockage), which occurs in only about 10 percent of cases.

Prenatal diagnosis of gastroschisis allows parents to discuss and plan postnatal management options with the obstetrician and pediatric surgeon. The Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia offers a comprehensive management approach specifically designed to optimize pre and postnatal care of gastroschisis. In many cases, gastroschisis can be successfully repaired with an excellent long-term prognosis.

Evaluation of Gastroschisis

Families coming to the Center for Fetal Diagnosis and Treatment with a diagnosis of gastroschisis undergo a detailed level II ultrasound evaluation. For proper counseling and management, it is important to distinguish gastroschisis from other abdominal wall defects, such as omphalocele, which is a membrane covered herniation of the intestine into the base of the umbilical cord.

Families then consult with a multidisciplinary team, including a pediatric surgeon and an obstetrician to discuss prenatal management, delivery and postnatal surgical options. Educational materials concerning gastroschisis are provided, and families also have the opportunity to tour the Newborn Infant Center (N/IC). Following the initial evaluation and consultation, an individual management and follow-up plan is formulated with each family and referring physician.

Gastroschisis Repair and Treatment Options

Since gastroschisis exposes the fetal intestines to the amniotic fluid and are unprotected during pregnancy, there is an increased risk for third trimester complications, such as bowel dilatation, decreased fetal growth and amniotic fluid volume, preterm delivery, as well as the slight risk of fetal death. For these reasons, close surveillance of gastroschisis in the third trimester using a combination of sonography and fetal surveillance testing (biophysical profile, Doppler ultrasound, amniotic fluid volume) is important to monitoring fetal well-being and determining the appropriate time of delivery.

Gastroschisis repair or surgical correction of gastroschisis involves the return of the extra-abdominal bowel back into the abdominal cavity followed by abdominal wall closure.
Newborn with Gastroschisis after C-section and after immediate repairThis can either be performed with an immediate primary gastroschisis repair, or more commonly, a staged repair approach, depending upon postnatal assessment of the condition of the exposed bowel. Primary gastroschisis repair entails reduction of the bowel and complete abdominal wall closure in one operation. Prenatal exposure of the fetal intestines to the amniotic fluid can be associated with bowel dilatation and inflammation, thus making primary repair not feasible.

The staged approach to gastroschisis repair begins at the time of delivery, when the exposed abdominal contents are placed in a protective covering for the infant transfer to the Newborn/Infant Center. Upon admission to the N/IC, silastic sheeting, commonly referred to as "silo,” is placed around the herniated bowel. The silo is then reduced daily at the bedside until the abdominal contents are level with the skin. The infant undergoing gastroschisis repair is then taken to the operating room for final closure. It is not uncommon to require breathing/ventilatory assistance during this period of time.

Although the abdomen is closed after the gastroschisis repair, it takes time for the intestines to recover from gastroschisis. For this reason, first feedings are provided intravenously. Once bowel function returns, as evidenced by the passing of a bowel movement, feedings via a naso-gastric (NG) tube are slowly initiated while IV feeds continue. Pumping and freezing of breast milk is encouraged for NG feeds, if tolerated. Alternatively, a special alimental formula can also be given. NG feeds are slowly increased, as tolerated, and oral feeding is introduced. This is a gradual process, and infants who have undergone gastroschisis repair might experience occasional setbacks, including need for bowel rest or additional surgery. During the stay in the Newborn/ Infant Center, a specialized team consisting of surgeons, nurses, speech therapists (for feeding therapy), lactation consultants and social workers are available as needed. We strongly encourage active parent participation in the care of the infant.

What is Gastroschisis? - Frequently asked questions

What is Gastroschisis? In this section, we provide answers to some frequently asked questions regarding the risks, causes and treatment of gastroschisis.

What is gastroschisis?

Gastroschisis is a defect that occurs when the abdominal wall fails to close properly during fetal development, allowing the intestines to protrude through the abdominal wall. Gastroschisisis usually discovered when the mother's alpha feto protein (AFP) blood levels become elevated during the second trimester. The problem may also be detected during a routine fetal ultrasound.

How common is gastroschisis? Does it run in families? What causes it?

Gastroschisis occurs in approximately 1 in 5,000 births. It does not appear to run in families, and there is no increased risk of recurrence in future pregnancies.

Unfortunately, we do not know the exact cause of gastroschisis. However, it is often associated with younger mothers (under 20 years of age) and is unrelated to anything the mother ate or did before or during her pregnancy. Gastroschisis usually occurs as an isolated defect and is not typically seen in conjunction with other health problems.

What are the risks of gastroschisis to my unborn baby's health?

During the third trimester, the baby is at risk for gastroschisis-related complications such as bowel dilatation (stretching), decreased fetal growth rate, oligohydramnios (low volume of amniotic fluid, indicating reduced fetal kidney function), and, in only very rare cases, death. For this reason, mothers and babies are closely monitored with ultrasound and fetal non-stress testing.

The fetal non-stress test monitors the baby's heart function. It records the heart rate of the fetus while he or she is moving. If the heart is functioning properly, the fetal heart rate should increase in response to movement.

How is gastroschisis treated at the Center for Fetal Diagnosis and Treatment?

The condition of the fetus is carefully monitored to determine the best time for delivery. After delivery, surgical correction of gastroschisis involves the return of any exposed bowel to the abdominal cavity and subsequent closure of the abdominal wall. This can be accomplished in one of two ways:

• Primary gastroschisis repair: The baby undergoes surgical repair immediately after birth. The bowel is returned to the abdominal cavity, and the abdominal wall is closed during one procedure. This is the preferred method of repair because it is associated with a reduced risk of infection and fluid loss.
• Staged gastroschisis repair: Prolonged exposure to irritating amniotic fluid or trauma during birth may inflame or stretch the bowel. If so, the bowel is covered by a sheet of protective material and gradually returns to the abdominal cavity by gravity. Then, the abdomen is closed surgically.

The method chosen depends upon the condition of the bowel after birth.

When the infant who has undergone gastroschisis repair can tolerate full feedings via a combination of oral and NG feeds with adequate weight gain, he or she is getting 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 the above outlined factors. After discharge from the hospital, the infant will be closely monitored by his/her pediatrician and will periodically return to The Children's Hospital of Philadelphia for appointments with the pediatric surgeon or with other specialists as needed.