Gastroschisis is an abdominal wall defect like omphalocele in which the anterior abdomen does not close properly allowing the intestines to protrude outside the fetus. The majority of fetuses with this problem are born to mothers in their late teens or early twenties. For some unknown reason, while the fetus is developing, the muscles of the abdominal wall do not form correctly. This allows some of the organs (stomach, intestine) to protrude outside the fetus's body. The organs outside of the fetus's body are floating in the amniotic fluid.
The amount of abdominal contents protruding outside of the fetus varies in each pregnancy. Some are very small (just a few loops of bowel), while others can be quite large and involve most of the intestine and stomach.
There is a range of severity for fetuses with gastroschisis that depends entirely on the condition of the intestine. Fortunately, most fetuses with gastroschisis do not have severe damage to the intestine before birth. The relatively normal intestine can be returned to the abdomen and the defect closed in one or two surgical operations shortly after birth. These babies will still be in the intensive care nursery for several weeks before the intestines work well enough to allow feeding and subsequent discharge home. However, these babies eventually feed normally and grow up normally .
Ten to twenty percent of fetuses with gastroschisis will have significant damage to the intestine that greatly complicates their postnatal course and, occasionally, prevents survival. Babies born with damaged intestine can have a very difficult and prolonged stay in the intensive care nursery. These babies often require several surgical operations to return of the intestine to the abdomen using a plastic silo and eventual closure of the abdominal wall. The bowel can be so damaged that parts of it have to be removed. In the worst case, there may not be enough bowel left to absorb food. The most severely affected babies may not survive, and others may be left with a "short bowel syndrome." At the very least, these babies will require nutritional support in the nursery for many months.
In order to determine the severity of your fetus's condition it is important to gather information from a variety of tests and determine if there are any additional problems. These tests along with expert guidance are important for you to make the best decision about the proper treatment.
Amniocentesis may be necessary for chromosome testing. Sonography is the best imaging tool, but is dependent on the experience and expertise of the operator. Magnetic resonance imaging may be advised in some cases. Many problems are first detected during routine screening procedures performed in your doctor’s office (amniocentesis, maternal serum screening, routine sonography), but assessment and treatment of gastroschisis before and after birth will require the expertise of a specialized hospital with experience managing complex and rare fetal problems. We can work with your doctor to find a center convenient for you.
A sonogram will accurately diagnose gastroschisis and distinguish it from other similar conditions such as omphalocele. However, the test cannot always tell how severely the bowel damage is. Serial sonograms every few weeks may be necessary to see if the bowel outside the fetus’s body becomes dilated, develops a thick wall, or loses some blood flow.
Since 8 out of 10 fetuses with gastroschisis will not have damaged bowel and will do fine after birth, it is important to be able to identify those 2 fetuses out of the 10 who will have badly damaged bowel and may benefit from fetal intervention before birth. We follow all fetuses with a careful ultrasound examination every week or two to see if we can detect any change in the bowel.
It is very important to plan for delivery at a tertiary center with good neonatology and pediatric surgery for management and repair after birth. While it was originally thought that babies with the bowel on the outside of the body would have to be delivered by Cesarean section, this is not the case and most babies can be delivered vaginally. Good communication between perinatology (obstretricians) and neonatology (pediatricians) is crucial because many of the babies are born slightly premature.
The innovative procedures at FTC saved the lives of both Angela and Guy, whom were both diagnosed with severe CCAMs.