Although it is a rare birth defect, you may have heard of or know of someone who had a child born with gastroschisis. Are you curious about what exactly gastroschisis is or how doctors treat it? Keep reading to learn more about this type of abdominal wall birth defect, its causes, and the prognosis for children born with gastroschisis.
Gastroschisis is the medical term for a type of birth defect impacting the abdominal wall. Gastroschisis happens in utero when there is a hole in the fetus’s belly wall, so organs usually found inside the abdomen (like the intestines) spill outside into the surrounding amniotic fluid.
Gastroschisis occurs in approximately 1 in 5,000 live births. That is much rarer than other birth defects like clubfoot (occurring in 1 out of every 593 births) or Down Syndrome (occurring in 1 out of every 700 births), according to the U.S. Centers for Disease Control and Prevention (CDC). In many developed and developing countries, reported rates of gastroschisis have increased over the past 25 years from 0.1-1.0 per 10,000 births to 3.0-5.0 per 10,000 births. The increase in cases makes some people wonder whether environmental factors play a role in gastroschisis. The cause of gastroschisis is unknown, so there is a risk that it could happen to anyone during pregnancy.
A combination of genes and other environmental factors, such as diet or certain medicines used during pregnancy may combine to cause gastroschisis. Studies note that gastroschisis is correlated with pregnancy at a younger age and using tobacco, alcohol, or other drugs during pregnancy. In the U.S., the National Institute for Occupational Health and Safety (NIOSH) analyzed data from the National Birth Defects Prevention Study (NBDPS), a large multicenter, population-based case-control study of birth defects. Scientists looked to see if people working as nail technicians and hairdressers had babies born with birth defects more frequently. The scientists’ June 2021 report showed that mothers who gave birth to infants with gastroschisis were likelier to have worked as nail technicians or hairdressers during early pregnancy than mothers of infants with no birth defect. Gastroschisis is rarely associated with other birth defects.
The birth defect happens very early in pregnancy, usually when the abdominal wall forms or seals shut during weeks 10-12 of embryological development. The advent of earlier prenatal screening blood tests measuring alpha fetal protein between 15-20 weeks and earlier fetal anatomy ultrasound screenings (18-20 weeks) means that doctors can diagnose gastroschisis much earlier in pregnancy. With gastroschisis, levels of alpha fetal protein in the blood are elevated. Doctors usually confirm the diagnosis of gastroschisis in early pregnancy with specialized ultrasound and Magnetic Resonance Imaging (MRI).
On ultrasound, the fetus’s stomach, large or small intestines, will shown to be outside of the body. The intestines may be swollen or twisted. If your baby has gastroschisis, you will not feel any symptoms.
Gastroschisis is different from another abdominal wall birth defect called an omphalocele. An omphalocele may be very small, and unlike gastroschisis, the protruding organs are covered with a membranous sac. Embryologists suggest that omphalocele and gastroschisis may be the same disorder. The membranous sac surrounding an omphalocele may rupture during fetal growth to become gastroschisis. However, this theory has not been proven to date.
Gastroschisis and omphaloceles are different from umbilical hernias. Umbilical hernias happen when the muscles of the lower abdominal wall get separated slightly and the intestines can squeeze through that opening. With a hernia, protective layers of connective tissue and skin fully cover the intestines.
While umbilical hernias typically involve the intestines only, gastroschisis involves the intestine and other abdominal organs (such as the stomach or liver) protruding from an opening found to the right of the belly button. Problems result because the amniotic fluid irritates the intestine and they can swell and shorten as a result.
The longer the intestine “swims” in the amniotic fluid, the greater the likelihood of intestinal damage. Another risk is that, as the fetus develops, the hole in the abdominal wall becomes smaller, squeezing the blood supply to the intestine or causing it to twist around itself. Either of these situations can cause inflammation, intestinal blockage, and potentially permanent damage, leading to long-term feeding problems after the baby is born. If this is occurring in utero, your obstetrical team may discuss an earlier delivery to protect your baby’s intestine.
Although doctors diagnose gastroschisis while you are still pregnant, they can’t treat it until after delivery. Most people whose babies have gastroschisis deliver their babies vaginally. There is not sufficient evidence to show that an elective cesarean section is better for babies with this birth defect. Your OBGYN and pediatric specialists should discuss your childbirth options with you, depending on the severity of your child’s birth defect. It is more than likely that you will need to deliver at a hospital with a neonatal intensive care and pediatric surgery unit to provide speciality care for your infant.
Surgery is necessary to replace your baby’s organs inside their body. Surgery also repairs the hole near the belly button to prevent their organs from returning back outside of the body. There are two main types of surgery done to fix gastroschisis. The severity of the birth defect and how many organs are outside your baby’s body determine which type surgeons choose.
In a primary repair procedure, your baby will receive surgery immediately after birth to move the organs back into their body and repair the hole in their abdomen.
In a staged repair, your baby’s surgeon performs surgery step by step, more slowly. Staged repair is usually the safer option for children who aren’t healthy enough for surgery or whose abdomens aren’t big enough to hold all their organs.
From the time your baby is born to the time of their surgery, your baby’s surgeon will place their exposed organs in a plastic pouch called a silo to prevent infection, dehydration, and damage. Prior to and after surgery, your infant will be fed through an intravenous (IV) line or feeding tube. Whey will be slowly introduced to normal feeding. Bowel function may be delayed in most infants due to problems with absorbing nutrients from food and breastmilk and the gut not working correctly. Delaying feeding by mouth gives your baby’s bowel time to heal and to learn how to function normally.
Additional surgery to repair your baby’s abdomen muscles or intestines may be necessary as your baby grows. Some children with gastroschisis may have other health problems, such as shorter intestines, slow growth before birth, prematurity, or heart abnormalities. The good news is that the survival rate of infants born with gastroschisis is higher than 90 percent, meaning that if 10 babies are born with gastroschisis, nine of them will survive.
While rates of gastroschisis are increasing, the number of infants surviving has remained constant, meaning that healthcare providers and hospitals are getting better at caring for infants born with this more rare birth defect. Before becoming pregnant or when you are trying to conceive, you can lower your risk of having a baby born with gastroschisis by not drinking alcohol, smoking tobacco, or taking opioid painkillers, eating a nutritious diet, and being screened for any genitourinary infections (sexually transmitted infections or urinary tract infections) if you have symptoms or risk factors. With earlier diagnosis of gastroschisis in pregnancy, your specialty pregnancy and pediatric care team can help you and your baby have the healthiest outcomes possible.