Gastroschisis

Overview

Gastroschisis is a birth defect of the abdominal wall in which a baby is born with an opening, usually just to the right of the belly button, through which part of the intestines and sometimes other organs protrude outside the body. Unlike some related conditions, the exposed organs are not covered by a protective sac, so they are directly exposed to the amniotic fluid before birth and to the air afterward.

This condition develops early in pregnancy when the abdominal wall does not form completely. It is most often detected before birth on a routine ultrasound, which allows the medical team to plan a safe delivery and prompt surgery. Gastroschisis is a serious condition that requires specialized newborn care, but with modern surgery and intensive care most babies do well and go on to lead healthy lives.

Symptoms

Gastroschisis is usually obvious at or before birth. Key features include:

• Visible intestines outside the body through an opening beside the navel, without a covering sac.
• A small opening in the abdominal wall, typically to the right of the umbilical cord.
• Exposed bowel that may look swollen, thickened, or inflamed from contact with amniotic fluid.

After birth, affected babies are at risk of difficulties such as trouble keeping warm, fluid loss, infection, and feeding problems. Because the intestines have developed outside the abdomen, some babies have slow or difficult digestion in the early weeks and need careful nutritional support.

Causes

The exact cause of gastroschisis is not fully understood. It happens when the abdominal wall does not close properly early in pregnancy, allowing the intestines to develop outside the body. Several points are well established:

• It is generally not inherited and most often occurs in families with no history of the condition.
• It is more common in babies of younger mothers, particularly teenagers and women in their early twenties.
• Certain exposures during pregnancy, including smoking and some substances, have been linked to a higher risk.

Importantly, gastroschisis is usually an isolated defect, meaning that the baby is otherwise typically formed and does not usually have the chromosomal abnormalities seen with some other birth defects.

Risk Factors

• Younger maternal age, especially teenage pregnancy
• Smoking during pregnancy
• Use of certain substances or medications in early pregnancy
• Poor nutrition during pregnancy in some cases

Even with these associations, many babies with gastroschisis are born to mothers with no identifiable risk factors, and the condition often cannot be predicted or prevented in an individual pregnancy.

Diagnosis

Gastroschisis is most often diagnosed before birth:

• Prenatal ultrasound: Frequently shows the intestines outside the abdomen during routine pregnancy scans.
• Maternal blood screening: A higher level of a substance called alpha-fetoprotein can be a clue that prompts further imaging.
• Follow-up monitoring: Once detected, the pregnancy is monitored closely to watch the baby's growth and the condition of the exposed bowel.

If it is not found before birth, the diagnosis is obvious immediately at delivery from the visible defect.

Treatment

Treatment requires specialized newborn surgical care, ideally at a hospital equipped for it:

• Immediate stabilization: The exposed bowel is protected and kept warm and moist, and the baby is given fluids and sometimes antibiotics.
• Surgery: The intestines are gently returned into the abdomen and the opening is closed. If the abdomen is too small to hold everything at once, the organs may be placed in a protective pouch called a silo and returned gradually over several days.
• Nutritional support: Because the bowel often works slowly at first, babies are fed through a vein until the intestines recover enough to handle milk.

Recovery can take weeks, and some babies need a longer hospital stay. The long-term outlook is generally good, with most children eventually feeding and growing normally.

Prevention

Gastroschisis cannot be reliably prevented because its cause is not fully understood. However, general steps that support a healthy pregnancy may lower risk and improve outcomes:

• Avoid smoking, alcohol, and recreational drugs during pregnancy
• Attend regular prenatal care so any problem is found early
• Eat a balanced diet and take recommended prenatal vitamins
• Discuss all medications with your healthcare provider before and during pregnancy

When to See a Doctor

Gastroschisis is usually identified during routine prenatal care. If it is detected before birth, your care team will arrange delivery at a hospital with newborn surgical services and a plan for immediate treatment. Seek prompt medical attention if:

• A prenatal scan suggests an abdominal wall defect, so specialized care can be arranged
• A baby is born with visible intestines or organs outside the abdomen, which is a surgical emergency requiring immediate care

Related Topics

Frequently Asked Questions

References

1. Centers for Disease Control and Prevention (CDC). Facts about Gastroschisis.
2. MedlinePlus, U.S. National Library of Medicine. Gastroschisis repair.
3. Mayo Clinic. Birth defects — Symptoms and causes.
4. National Institutes of Health (NIH). Gastroschisis.