Gastroschisis

Gastroschisis refers to an opening, or ‘hole’, in the abdominal wall.  This defect, or ‘hole’, occurs very early in gestation—around the 6th week of development.  The defect allows the baby’s bowel, and sometimes other organs, to move outside the body for the remainder of the pregnancy. 

Some abdominal wall defects have a sac that covers and protects the abdominal contents.  With gastroschisis, there is no covering over the bowel and it is bathed in the amniotic fluid until delivery.

Gastroschisis

               Gastroschisis.PDF

Gastroschisis occurs in approximately 1 in 3,600 births and the frequency has increased considerably over the last 25 years. This type of birth defect is more commonly seen with young mothers. It is not known to be associated with other organ anomalies or with chromosome problems. However, in about 10% to 15% of babies with gastroschisis, some of bowel may be abnormal.  The most common bowel abnormality is called an atresia. This means the bowel stopped forming normally, resulting in a blockage, and then restarted again.

Diagnosis of gastroschisis

If you had a screening prenatal blood test known as a maternal serum alpha-fetoprotein (MSAFP), it will be higher than expected if there is an opening in the abdomen, or in the spine. A prenatal ultrasound can allow for definitive diagnosis of gastroschisis.

Management of pregnancy

Testing is very important throughout the pregnancy because it gives the doctors the chance to see how well the baby is doing. The baby’s bowel becomes swollen and irritated over time because it is exposed to amniotic fluid and because the hole is often small causing the bowel to be compressed. Ultrasound is advised every few weeks to look for changes in the baby’s bowel, and to check the baby’s growth. Most mothers will begin twice weekly non-stress testing around 32 weeks but some may need earlier antenatal testing. Problems that may occur in the third trimester include poor growth, less amniotic fluid, preterm labor, signs of fetal distress, and a higher risk of fetal death.

Delivery of a baby with gastroschisis

It is advised that delivery of a baby with gastroschisis be planned at a hospital that is prepared for high-risk births including a newborn intensive care unit and pediatric surgical services. This will simplify communication between obstetrical, neonatal and pediatric surgical teams as well as limit the separation between mother and baby. Researchers have compared vaginal delivery to a Cesarean delivery for babies with gastroschisis and found no convincing evidence to support having a C-section delivery. We recommend vaginal delivery unless there is a specific obstetrical indication for a C-section delivery.

University of Michigan is one of only a few centers nationwide at which the birth center is co-located within a comprehensive children’s hospital. This unique setting allows for seamless integration between our private-room birth center, state-of-the-art newborn intensive care unit (NICU), and access to around-the-clock pediatric surgical services in one convenient location.

Treatment for gastroschisis

There is no fetal treatment for gastroschisis. These babies are best managed immediately after delivery. This typically includes placing the baby with the gastroschisis immediately into a special plastic bag that is closed under the arms. This allows the neonatal team to transport the baby easily for an assessment and reduces heat loss.

The neonatal doctors will check the baby’s breathing and heart rate, place a breathing tube and NG tube (a tube in the baby’s nose which ends in the stomach to remove secretions), and an IV will be placed. The surgeon will examine the bowel. The intestines may be swollen and may look red, or purple. The surgeon will carefully check to be sure the bowel is not twisted causing reduced blood flow to the area, and will also inspect for an atresia.

Most babies need a breathing tube for a few days or more depending upon how they are responding. If there appears to be enough space inside the abdomen, it may be possible to replace all the intestines and close the hole immediately. This is called a primary closure. Some babies don’t have enough room inside the abdomen however and, when this happens, the bowel cannot be safely placed back into the abdomen. A pre-formed plastic bag called a silo is used by the surgeon to cover the bowel. Over the next week, the bowels are slowly reduced into the abdomen. When the bowels are completely reduced, the hole is closed in the operating room.

If an atresia (a disconnected part of the bowel) is found, it is not repaired right away. Instead, the hole is repaired as previously described so the bowel can heal before sewing it together. The reconnection usually occurs around 4-6 weeks later once the swelling and inflammation has gone down.

Nutrition is a big concern for these babies. The swollen bowel does not absorb nutrients and does not move waste through as it should. All these babies get a special IV line to receive intravenous nutrition until the bowel recovers. Depending on the degree of damage, it may take several weeks until the baby is able to tolerate breast milk, or a special type of formula. All feedings begin as a very small amount and is increased little by little until they reach the amount needed for good growth and healing. The process of getting to full feedings takes 2-3 weeks at least. 

About 20% of babies with gastroschisis will have a complicated recovery. Some babies will have intestines that move very slowly and do not absorb nutrients as well as they should. These babies will need IV nutrition for a much longer period of time. As a result, the liver can have problems. Another group of babies may lose some of the bowel before or after birth, resulting in short bowel syndrome. These babies are cared for by the Children’s Intestinal Rehabilitation Clinic at Mott.

Future pregnancy risk

Gastroschisis is a considered a random event with many issues relating to the cause. The chance of it happening in another pregnancy is about 4%. Your doctor and genetic counselor will review the risk in your family and discuss with you.

Research 

The Gastroschisis Outcomes Of Delivery (GOOD) Study is a current gastroschisis research opportunity available at University of Michigan Health. The purpose of the study is to determine the best care for babies with gastroschisis. Currently, the two standard delivery options are to induce a mother at 35 weeks or carry to observed delivery with a goal of 38 weeks. It is not known which of these two commonly used delivery plans is best. This study will help compare the two options to figure out which delivery timing maximizes treatment for both mother and baby.  

The University of Michigan Health Fetal Diagnostic and Treatment Center is a member of the North American Fetal Therapy Network (NAFTNet), which has endorsed and supported the GOOD Study. The GOOD Study has been designed by doctors specializing in maternal-fetal medicine, neonatology, and pediatric surgery.

Mothers having a baby with gastroschisis may be eligible for participation in this study. Please contact our team to learn more about the study or request information about becoming a participant. You may also scan the QR code below to access our study brochure and informed consent form. 

Principal Investigator: Erin Perrone, M.D., eperrone@med.umich.edu

Site Coordinator: Heather Cameron, M.P.H., hcameron@med.umich.edu or 734-763-4255

Take the next step

For more information on pregnancy management or infant care for gastroschisis or to schedule an appointment with our team, call 734-763-4264.