Gastroschisis: what it is, causes, treatment and outlook for babies

Gastroschisis is a condition in which a baby has a hole in the abdominal wall near the belly button and the bowel develops outside the abdomen. Cambridge University Hospitals explains that early in all pregnancies the intestine develops inside the umbilical cord and, at about 10 weeks, usually moves inside the baby's abdomen. In gastroschisis the intestine develops outside the baby's body, through a hole usually to the right of the belly button, with no covering membrane.

The Manchester Centre for Neonatal Surgery adds that the bowel (and rarely other organs such as the stomach or bladder) is exposed to the amniotic fluid during pregnancy and then to the air when the baby is born. The West Midlands Neonatal and Maternity Network says that, because the bowel is not protected by skin, it can become irritated over time.

Cambridge University Hospitals says we do not know what causes gastroschisis. Manchester says the cause is not known, the chance of it developing is the same whether or not a close relative has the condition, it is not caused by anything the parents have done or not done during pregnancy, it is not inherited, and any future pregnancy is not at an increased risk.

The West Midlands network says it may occur due to a disruption in blood flow to the abdominal wall early in development, that it is found more often in young women and those who smoke or use drugs, but that often women who have a baby with gastroschisis have no risk factors at all. Manchester notes that babies of mothers under the age of 20 are at an increased risk. The West Midlands network also says it is not usually seen with other genetic differences.

Gastroschisis is usually detected on ultrasound scans during pregnancy. The West Midlands network says it is screened for at the 20-week anomaly scan but is often diagnosed earlier, at the dating scan between 11 and 14 weeks, when the scan shows loops of bowel floating outside the baby's tummy. Manchester says it is rare for gastroschisis to be diagnosed after birth, and Cambridge says that if it is not detected before birth it is immediately apparent at birth.

Because gastroschisis is not usually associated with genetic or chromosome differences, the West Midlands network says that genetic testing may only be offered if any other differences are seen.

The West Midlands network says that after diagnosis you will be referred to the fetal medicine team and have regular scans, that babies with gastroschisis all need regular growth surveillance, that you may need to be delivered in a different hospital with specialist neonatal and surgical facilities, and that you are likely to be offered earlier delivery.

Manchester says that, if your baby is diagnosed with gastroschisis, you will be offered consultant-led care, close monitoring of your baby's growth, extra antenatal appointments and scans, a planned delivery at a specialist hospital and an appointment to see a neonatal surgeon and neonatologist. It says you will be offered induction of labour at around 37 weeks, because after 37 weeks the chances of complications increase, and that gastroschisis does not usually prevent a vaginal delivery.

Cambridge says your baby will be monitored during pregnancy to check the condition of the bowel, look for any signs of dilatation (widening) within the bowel and check your baby's growth, and that if there are signs of concern, there is an increased risk of your baby being born prematurely and an earlier delivery may need to be arranged.

Cambridge says a team of neonatal doctors and nurses will be present at the birth. If your baby is well, you may be able to have a quick cuddle. The exposed bowel is protected with a covering such as cling film, which reduces fluid and heat loss, protects the intestine from further damage and allows staff to monitor closely. A nasogastric tube is inserted via the nose into the stomach to help decompress the bowel, and lines into veins give fluids, nutrition and medication including antibiotics. The children's surgical team assess the colour and condition of the bowel, and your baby is transferred to a neonatal intensive care unit (NICU).

Manchester gives a similar picture: the baby is passed to neonatal doctors, it is unlikely you will be able to hold your baby straight away, the bowel is wrapped in a medical cling film, a nasogastric tube empties the stomach to prevent vomiting and swelling, and the baby is put on a drip for fluids and antibiotics.

Manchester says all babies with gastroschisis need a surgical intervention. Cambridge says that once stable, your baby will need an operation under general anaesthesia, and the operation depends on how much intestine is on the outside and the condition of the bowel.

Manchester says your baby will recover on the neonatal unit, needing intensive care, a drip, and monitoring for breathing, heart rate and oxygen levels. It is possible but not likely that the baby will need a ventilator. Babies are initially fed with total parenteral nutrition (TPN) through a tube into a vein in the chest, because it will take a number of weeks for milk feeds to start. When the bowel is working they are fed with expressed breast milk or formula, orally or through a nasogastric tube, and when fully breast or bottle fed and gaining weight steadily they can go back to their local hospital or home.

Cambridge says breastfeeding is encouraged because breast milk is often better tolerated, and that even if your baby cannot have feeds for the first few days, colostrum can be used for mouth care. It says it is important to start expressing as soon as possible after delivery. It cites a UK national research study showing that a third of babies are discharged within a month of life, a third take up to two months and a further third, usually those with more complex problems, have a more prolonged stay.

Cambridge says that 5 to 10% of babies are considered complex and show one of four complications: bowel perforation, bowel necrosis (damage), bowel atresia (a blockage where a segment of intestine is closed off or missing) or a bowel not functioning properly (short gut). Complex cases may need additional surgery and prolonged line feeds.

The West Midlands network says around 1 in 10 babies with gastroschisis have an associated blockage in their bowel (atresia), which may only become obvious several weeks after the closure and will need further surgery, and that babies are at increased risk of necrotising enterocolitis (NEC), an infection of the bowel treated by resting the gut and giving antibiotics. Manchester describes short bowel syndrome, where the intestine is too short to absorb all the nutrients, and a very small chance of permanent intestinal failure, which would need long-term TPN, eventually possibly at home.

Manchester also lists later issues: babies who have had gastroschisis repair can develop hernias around the belly button that may need an operation later in life, and boys have an increased risk of undescended testicles, with surgery if needed at around 1 year old.

Cambridge says babies born with gastroschisis usually have good outcomes. Manchester says babies who have had surgery for gastroschisis do not usually have any ongoing problems and many can lead an entirely normal life. Some babies and children can be small for their age for the first few years, but most eventually reach their expected height and weight.

The West Midlands network says most cases are not inherited and the chance of it happening again is very low.

Cambridge University Hospitals points families to Contact a Family, a UK-wide charity providing advice, information and support to parents of disabled children, the Global Gastroschisis Foundation, and Bliss, which supports families of babies born prematurely or needing intensive or special care. The West Midlands network points to Antenatal Results and Choices (ARC) for non-directive information and support before, during and after screening and diagnosis. Hospital teams can also put you in touch with local support.

In the UK, gastroschisis is diagnosed during NHS antenatal screening and care is arranged through fetal medicine and a specialist neonatal surgical centre, usually before birth. Private antenatal scanning may pick it up, but delivery planning and surgery are organised through specialist NHS neonatal and paediatric surgical teams, with follow-up through the paediatric surgery clinic and your GP and health visitor.