Gastroschisis: Causes, Symptoms, Diagnosis, Treatment, and Prevention
In gastroschisis, the abdominal wall does not close completely during fetal development, leaving a hole near the belly button that becomes irritated, swollen, and damaged. Through this hole, some of the baby's organs, including the intestines, stomach, or liver, protrude outside the body. Amniotic fluid can irritate, cause swelling, and damage to these organs.
Causes of Gastroschisis
The exact cause of gastroschisis is unknown, but it is not inherited or passed down from parents to children. It may result from a combination of genetic and environmental factors that affect the baby’s abdominal wall formation. Some possible risk factors include:
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Young maternal age (under 20 years old)
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Smoking, drinking, or using drugs during pregnancy
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Having a viral infection or taking certain medications during pregnancy
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Having a previous baby with gastroschisis
Symptoms of Gastroschisis
It is usually between 18 and 20 weeks of gestation that a routine ultrasound can detect gastroschisis. The ultrasound will show loops of bowel or other organs floating freely outside the baby's body. The condition may be detected earlier or later, depending on the size and location of the hole and the organ involved.
Gastroschisis does not cause any symptoms for the mother during pregnancy, but it can affect the baby’s growth and development. Some possible complications include:
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Premature birth
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Low birth weight
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Intrauterine growth restriction (IUGR)
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Reduced blood flow to the organs
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Infection or inflammation of the organs
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Intestinal blockage, twisting, or perforation
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Short bowel syndrome (SBS)
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Necrotizing enterocolitis (NEC)
Diagnosis of Gastroschisis
If gastroschisis is suspected or confirmed by ultrasound, the mother will be referred to a specialized fetal care center, where a team of experts will monitor the pregnancy and plan for the delivery and treatment of the baby. The team may include:
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Maternal-fetal medicine specialists (high-risk pregnancy doctors)
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Pediatric surgeons
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Neonatologists (newborn intensive care doctors)
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Genetic counselors
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Nurses and social workers
The team will perform additional tests to assess the severity of the condition and check for any other abnormalities or complications. These tests may include:
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Detailed ultrasound
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Fetal echocardiogram (heart ultrasound)
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Fetal MRI (magnetic resonance imaging)
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Amniocentesis (sampling of the amniotic fluid)
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Fetal blood sampling (sampling of the baby’s blood from the umbilical cord)
The team will also discuss the options and risks of the delivery and treatment with the parents and provide them with emotional and practical support.
Treatment of Gastroschisis
The treatment of gastroschisis depends on the severity of the condition and the health of the baby. The main goal is to return the baby's organs to his abdomen and close the hole. In most cases, surgery is required immediately after birth, but sometimes it may be delayed or performed in stages, depending on the organs and the abdominal cavity's size and condition.
Surgery can be done in many different ways, but the most common method is called a silo repair. In this procedure, a sterile plastic bag is placed over the organs and attached around the hole to the skin. The silo acts as a temporary protection for the organs and allows them to gradually move back into the abdomen over several days or weeks. After removing the silo, the surgeon closes the hole with stitches.
Some babies may need more than one surgery to repair the gastroschisis, especially if they have complicated cases or develop complications after the initial surgery. Some possible complications include:
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Bleeding or infection
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Wound breakdown or hernia
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Adhesions or scar tissue
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Bowel obstruction or perforation
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Short bowel syndrome (SBS)
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Malabsorption or malnutrition
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Liver damage or failure
Prevention of Gastroschisis
There is no known way to prevent gastroschisis, but some steps can be taken to reduce the risk of having a baby with this condition. These include:
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Taking folic acid supplements before and during pregnancy
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Quitting smoking, drinking, or using drugs before and during pregnancy
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Avoiding exposure to harmful chemicals or infections during pregnancy
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Getting regular prenatal care and screening tests
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Consulting a genetic counselor if there is a family history of gastroschisis or other birth defects
Outlook
Based on the severity of gastroschisis and any other abnormalities or complications, babies with gastroschisis have varying outlooks. Although the majority of babies survive and have a good quality of life, some may require ongoing medical care and follow-up visits with their doctors and specialists in the future.
In addition to facing many challenges and emotions during and after pregnancy, parents of babies with gastroschisis may also need support from family, friends, and healthcare providers. They may also find it helpful to join a support group or online community of other parents going through the same thing.
