Daisy was sent to see me due to an abnormal blood test, with an increased level of MSAFP (maternal serum alpha-fetoprotein). AFP is a protein made by the baby. A small amount of this protein enters mom’s circulation, and we usually test for it between weeks 16-20 of pregnancy. An increased amount of AFP in your blood may be caused by an abnormal opening in the baby – like spina bifida or an opening in the baby’s abdominal wall. Sometimes, an elevation in MSAFP may be caused by incorrect dating, since different levels of AFP are expected at particular times in the pregnancy. Or by twins or triplets, since each fetus makes its own AFP. Sometimes, frequently in fact, the level is elevated and we can’t figure out why. But back to my story. Daisy was referred to my office for evaluation, and on ultrasound, we saw a very busy baby. Just one fetus in there? Check. Correct size and dates? Check. Normal-looking spine? Check. Abdominal wall? Uh-oh. An abdominal wall defect called gastroschisis was seen.
In about one in every ten thousand fetuses, the wall of the abdomen does not completely close. A small opening remains, usually just to the right of the belly button. This opening is called a gastroschisis. Intestines start to protrude through the abdominal wall, and on ultrasound, we see little loops of bowel floating in the amniotic fluid next to the abdomen. Your OB may see the gastroschisis on a routine ultrasound examination, or an abnormal opening in the baby may be suspected if you have an elevated MSAFP. Gastroschisis is not usually associated with an increased risk of chromosome or genetic abnormalities; it typically happens out of the blue, with no other anomalies present. Most birth defects are more common in overweight women. Gastroschisis is an exception; it is more common in young, slender women.
If your baby, like Daisy’s, is diagnosed with gastroschisis, your pregnancy will be followed more closely than usual. This is what we did:
- We saw her every month for ultrasounds, so that we could monitor the growth of the fetus and look for any other abnormalities that might have been present.
- We talked with her about the need to deliver her baby in a hospital with a Neonatal Intensive Care Unit and pediatric surgeons, since surgery would be necessary right after delivery. Sometimes, this means changing your OB provider or the delivery hospital. Fortunately, Daisy’s OB planned to deliver the baby downtown, where there is a great NICU.
- We referred her to the pediatric surgeon for a prenatal consultation. This is a great opportunity to ask questions. The better prepared you are, the less scary this process is.
- Starting at about 28 weeks, saw her once or twice weekly for fetal testing. We monitored for contractions, traced the fetal heart rate to look for signs of stress, and did ultrasounds to watch the baby’s movement and amniotic fluid volume, and to watch the intestines for swelling.
- We recommended that the baby be delivered at around 37 weeks (three weeks before the due date). Earlier delivery may sometimes be necessary if we see concerning signs – swelling of the bowel, changes in the fetal heart rate tracing, or decreased fetal movement. Vaginal delivery is possible with gastroschisis, although cesarean delivery may be needed if there are signs of fetal stress.
At the time of delivery, the exposed intestines were covered with a plastic bag. This prevents the bowel from drying out, losing heat, and getting infected. The NICU staff made sure that the baby was breathing well, then they rolled him over to Daisy, where she was able to say hello and touch the baby. Then away little Hayden went to the NICU, where preparations were made for surgery. An IV line was placed in one of his umbilical cord blood vessels. The surgeon wanted to obtain X-rays and other images. In Hayden’s case, the surgery was straightforward; the bowel was slipped right back into his abdomen and the defect was sutured closed. In other cases, a little silo is placed on top of the abdomen, so that the intestines can start to return to the abdomen as swelling improves. Occasionally, the bowel has been damaged by life inside the uterus – loops of intestine can twist or swell and lose blood flow, be irritated by exposure to the amniotic fluid, or just not form right to begin with. When complications like this arise, more extensive surgery may be needed, and segments of bowel may be lost, resulting in “short bowel syndrome.” Babies with short gut will have more challenges – poor weight gain, diarrhea, feeding tubes, and prolonged hospitalization. Depending on how difficult the repair, babies with gastroschisis will stay in the hospital for several weeks, learning to eat and grow. In little Hayden’s case, no complications arose, feedings began within a few weeks of delivery, and once he was gaining weight, he went home with Daisy. A year later, I can’t even see the scar on his tummy.