Gastroschisis

Gastroschisis: Symptoms, Causes, Types, Diagnosis, and Treatments

Gastroschisis is a rare but serious congenital defect that affects newborns, characterized by the protrusion of the intestines—and sometimes other organs—outside the baby’s body through a hole near the belly button. This condition requires prompt diagnosis and immediate surgical intervention after birth. With medical advancements, the prognosis for babies born with gastroschisis has significantly improved, but challenges remain in managing this complex condition.

In this comprehensive guide, we will explore what gastroschisis is, its signs and symptoms, possible causes, types, diagnostic techniques, and available treatments. Whether you’re a medical student, healthcare provider, expectant parent, or simply curious, this article aims to provide a complete overview.

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What is Gastroschisis?

Gastroschisis is a birth defect of the abdominal wall that occurs when the muscles around the baby’s abdomen do not form properly during early fetal development. This causes a hole—usually to the right of the umbilicus (belly button)—through which the intestines, and occasionally the stomach and liver, protrude.

Unlike omphalocele, another abdominal wall defect, the organs in gastroschisis are not covered by a protective sac. This leaves them exposed to amniotic fluid in the womb, potentially causing inflammation, irritation, or damage before birth.

Incidence and Epidemiology

• Occurs in approximately 1 in 2,000 to 5,000 live births.
• Most commonly affects teenage mothers or mothers under the age of 20.
• Rates of gastroschisis have increased globally over the past few decades.

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Symptoms of Gastroschisis

Since gastroschisis is a visible external defect, it is usually apparent immediately at birth. However, prenatal imaging (such as ultrasound) can often detect it before birth.

Prenatal Symptoms (Detected by Ultrasound)

• Free-floating bowel loops outside the fetus’s abdomen.
• Normal insertion of the umbilical cord (which differentiates it from omphalocele).
• Growth restriction in some cases.
• Abnormal amniotic fluid levels.

Postnatal Symptoms

• Visible intestines protruding from the abdomen through a hole near the belly button.
• Red, swollen, and inflamed intestines, due to exposure to amniotic fluid.
• Difficulty feeding or digesting food after birth.
• Increased risk of infection and dehydration due to exposed tissues.
• Sometimes associated with bowel atresia (a blockage or missing portion of intestine).

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Causes of Gastroschisis

The exact cause of gastroschisis remains unknown, but researchers believe that a combination of genetic and environmental factors may contribute.

Possible Causes and Risk Factors

1. Vascular Disruption Theory: A leading hypothesis is that early disruption of blood supply to the abdominal wall leads to incomplete closure and herniation.
2. Genetic Factors: While not usually inherited, certain genetic mutations or chromosomal abnormalities may play a role in rare cases.
3. Maternal Age: Teenage mothers and mothers under 20 have a significantly higher risk.
4. Lifestyle Factors:
   • Smoking during pregnancy.
   • Alcohol and drug use, particularly recreational drugs like cocaine or methamphetamine.
   • Poor prenatal nutrition or low folate intake.
5. Environmental Exposures:
   • Pesticides and certain chemicals.
   • Use of certain medications in early pregnancy.
6. Infection or illness during pregnancy, though evidence is inconclusive.

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Types of Gastroschisis

Gastroschisis is generally classified into two main types based on the severity and complexity of the condition:

1. Simple Gastroschisis

• Most common type.
• Only the intestines are protruding.
• Intestines are functioning and not significantly damaged.
• Better prognosis and simpler surgical repair.

2. Complex Gastroschisis

• More severe form.
• Involves intestinal atresia, necrosis, volvulus (twisting), or perforation.
• Higher risk of complications, longer hospital stays, and multiple surgeries.
• Greater challenges with feeding and growth.

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Diagnosis of Gastroschisis

Prenatal Diagnosis

Gastroschisis is typically diagnosed between 18–20 weeks of gestation through routine prenatal ultrasound.

Key Prenatal Diagnostic Methods:

1. Ultrasound Imaging:
   • Main diagnostic tool.
   • Identifies the bowel loops outside the fetal abdomen.
2. Maternal Serum Alpha-Fetoprotein (MSAFP) Test:
   • Elevated levels can indicate open abdominal wall defects.
   • Not specific, but prompts further investigation.
3. Fetal MRI (occasionally used):
   • Offers detailed anatomical imaging.
   • Helps assess bowel damage or associated anomalies.

Postnatal Diagnosis

• Confirmed visually at birth.
• Additional tests may be done to evaluate the baby’s overall health and the extent of intestinal involvement.

Postnatal Imaging and Tests

• Abdominal X-rays or contrast studies.
• Blood tests to monitor for infection and electrolyte imbalances.
• Echocardiogram or genetic testing if other abnormalities are suspected.

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Treatment of Gastroschisis

Initial Care After Birth

Immediate and careful management is essential to protect the exposed intestines and prepare the infant for surgery.

Post-Delivery Measures Include:

• Covering the exposed bowel with a sterile, protective dressing or a special plastic “silo bag”.
• Placing the infant in a temperature-controlled incubator.
• Initiating IV fluids, antibiotics, and nutritional support (TPN – total parenteral nutrition).
• Avoiding feeding by mouth initially.

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Surgical Treatment

There are two main surgical approaches depending on the severity and condition of the baby:

1. Primary Repair

• Suitable for simple gastroschisis.
• Single surgery to place the intestines back into the abdominal cavity and close the opening.
• Usually done within a few hours of birth.

2. Staged Repair with Silo Placement

• Used in complex cases or when the bowel is too swollen or large to fit back in at once.
• A silo (clear sterile pouch) is used to gradually guide the intestines back inside over a few days.
• Once reduced, a final surgery is done to close the abdominal wall.

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Postoperative Care

• Ongoing IV nutrition (TPN) until bowel function returns.
• Monitoring for signs of infection, bowel obstruction, or short bowel syndrome.
• Gradual introduction of oral or tube feeding.
• Neonatal intensive care support for respiratory, nutritional, and fluid management.

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Complications

Despite effective treatment, gastroschisis can be associated with various complications:

• Feeding difficulties and poor weight gain.
• Bowel adhesions or obstruction.
• Short Bowel Syndrome (SBS) if large sections of bowel are removed.
• Sepsis or infections due to exposed tissues.
• Prolonged hospital stay (sometimes months).

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Prognosis and Long-Term Outlook

With modern surgical and neonatal care, more than 90% of infants with gastroschisis survive, especially those with simple forms. However, long-term health depends on several factors:

Better Prognosis If:

• Gastroschisis is detected early and monitored.
• The infant is full-term at delivery.
• No severe bowel damage is present.
• Prompt and successful surgical intervention is achieved.

Long-Term Considerations:

• Growth and development need regular monitoring.
• Potential for intestinal malabsorption or feeding problems.
• Children may need physical, occupational, or speech therapy depending on their progress.

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Prevention and Prenatal Management

While gastroschisis cannot always be prevented, some steps may reduce the risk or help manage the condition effectively.

Preventive Measures:

• Avoid smoking, alcohol, and drug use during pregnancy.
• Good prenatal nutrition, including folic acid supplementation.
• Regular prenatal visits to monitor fetal development.
• Genetic counseling for those with family history or previous affected pregnancies.

Prenatal Management Strategies:

• Frequent ultrasounds to assess bowel condition and fetal growth.
• Planning delivery in a facility equipped with NICU and pediatric surgical services.
• In some cases, early delivery (around 37 weeks) may be recommended if bowel damage is worsening.

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Gastroschisis vs. Omphalocele: Key Differences

Feature	Gastroschisis	Omphalocele
Location	Right of the umbilicus	Through the umbilicus
Protective Sac	No (organs exposed)	Yes (organs inside a membrane)
Associated Defects	Rare	Common (cardiac, chromosomal, etc.)
Cause	Usually sporadic	Often genetic/chromosomal in origin
Prognosis	Generally better	Depends on associated anomalies

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Support and Resources

Families of infants diagnosed with gastroschisis can benefit from emotional, medical, and financial support. Support groups, counseling services, and nonprofit organizations can provide valuable help during and after treatment.

Organizations Offering Support:

• March of Dimes
• Cincinnati Children’s Hospital Fetal Care Center
• Fetal Health Foundation
• Ronald McDonald House Charities

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Conclusion

Gastroschisis is a serious yet treatable congenital condition that requires immediate medical attention and surgical intervention. Thanks to advancements in prenatal imaging, neonatal care, and surgical techniques, most babies born with gastroschisis go on to live healthy, fulfilling lives.

Early diagnosis, careful delivery planning, skilled surgical treatment, and comprehensive postoperative care are key to achieving the best outcomes. With the right support and medical care, the journey for families facing gastroschisis can become one of resilience and hope.

Frequently Asked Questions (FAQs) About Gastroschisis

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