Gastroschisis (Gastroshiza): Causes, Symptoms, Diagnosis & Treatment (2025 Guide)

Introduction to Gastroschisis (Gastroshiza)

When expecting a baby, every parent hopes for a smooth pregnancy and delivery. But sometimes, rare congenital conditions appear that require immediate medical care. One such condition is Gastroschisis, also referred to as Gastroshiza in some sources.

Gastroschisis occurs when the abdominal wall of a baby doesn’t form completely during early fetal development. This creates an opening, usually next to the umbilical cord, through which the intestines (and sometimes other organs) protrude outside the baby’s body.

While this condition can sound frightening, advances in medical science mean that early diagnosis, proper treatment, and supportive care significantly improve survival and long-term outcomes.

In this comprehensive guide, we’ll explore:

• What Gastroschisis (Gastroshiza) is
• Its causes and risk factors
• Early symptoms and detection methods
• Diagnosis during pregnancy and after birth
• Treatment options and prognosis
• Preventive measures and maternal care
• What living with Gastroschisis means for families

What is Gastroschisis (Gastroshiza)?

Gastroschisis is a rare congenital abdominal wall defect that develops during pregnancy. Unlike some related conditions (like omphalocele), the exposed intestines in Gastroschisis are not protected by a membrane, leaving them vulnerable to amniotic fluid exposure and potential complications.

Key features include:

• A small opening (usually to the right of the umbilical cord)
• Protrusion of intestines outside the abdomen
• In some severe cases, stomach or liver may also be exposed

This condition occurs in about 1 in 2,000 to 4,000 live births, with higher rates observed in younger mothers.

Causes of Gastroschisis (Gastroshiza)

The exact cause of Gastroschisis remains unclear, but researchers believe it results from a combination of genetic, environmental, and lifestyle factors.

1. Genetic Factors

• Family history of congenital abnormalities can increase risk.
• Specific genetic mutations may affect abdominal wall development.

2. Environmental Influences

• Maternal smoking, alcohol, or drug use during pregnancy are linked with higher risks.
• Exposure to harmful chemicals or certain medications in early pregnancy may contribute.

3. Nutritional Deficiencies

• Lack of folic acid and essential vitamins before and during pregnancy may increase the likelihood of abdominal wall defects.

4. Maternal Age and Socio-Economic Factors

• Studies show a higher prevalence among mothers under age 20.
• Limited access to prenatal healthcare and nutrition education also raises risks.

While no single factor guarantees Gastroschisis, awareness and preventive maternal care can reduce the chances.

Symptoms and Early Detection

Unlike many conditions, Gastroschisis presents a visible physical sign:

• Abdominal contents protruding outside the body at birth, usually intestines.

During Pregnancy

• Routine ultrasound at 18–20 weeks often reveals Gastroschisis.
• Signs include free-floating loops of bowel outside the baby’s abdomen.

After Birth

• Protrusion near the umbilical cord is immediately visible.
• Babies may also show feeding difficulties or digestive issues.

Early detection during pregnancy allows doctors to prepare surgical and neonatal care plans before delivery.

Types of Gastroschisis

Doctors classify Gastroschisis into two main types:

1. Simple Gastroschisis
   • Intestines protrude through a small defect.
   • Usually fewer complications, manageable with prompt surgery.
2. Complex Gastroschisis
   • Larger defect, involving additional organs (like stomach or liver).
   • May include bowel damage, twisting, or obstruction.
   • Requires staged or more complex surgical treatment.

The type and severity determine treatment planning and prognosis.

Diagnosis of Gastroschisis (Gastroshiza)

1. Prenatal Diagnosis

• Ultrasound: Detects exposed intestines floating in amniotic fluid.
• Amniocentesis (optional): May be performed to rule out genetic abnormalities.

2. Postnatal Diagnosis

• Physical exam: Visible abdominal opening confirms condition.
• X-ray or CT scans: Assess extent of organ involvement.
• Multidisciplinary evaluation: Pediatric surgeons, neonatologists, and genetic counselors collaborate on care.

Treatment Options for Gastroschisis

Treatment begins immediately after birth to protect exposed organs and prevent infection.

1. Immediate Stabilization

• Baby placed in a sterile bag to protect intestines.
• IV fluids and antibiotics administered.
• Monitoring in a neonatal intensive care unit (NICU).

2. Surgical Approaches

• Primary Closure Surgery: If the defect is small, organs are repositioned, and the opening is closed in one surgery.
• Staged Repair (Silo Technique): If intestines are swollen or defect is large, a special bag (“silo”) gradually returns organs inside before final closure.

3. Post-Surgery Care

• Nutrition support (IV feeding until oral feeding is possible).
• Continuous monitoring for infections or bowel function.
• Long-term follow-ups for digestive or developmental concerns.

Complications of Gastroschisis

While survival rates are high, some babies face complications, such as:

• Infections: Due to exposed organs.
• Malnutrition: Difficulty absorbing nutrients.
• Breathing problems: Pressure on lungs from repositioned organs.
• Bowel obstruction: May require additional surgeries.
• Long-term digestive issues: Irregular bowel movements, slow growth.

Early interventions and medical advancements help manage these risks effectively.

Prognosis and Survival Rates

The outlook for babies with Gastroschisis has improved dramatically:

• Survival rate: 85–90% with proper treatment.
• Factors affecting prognosis:
  • Size of defect
  • Presence of additional abnormalities
  • Timing of surgery

With early diagnosis and expert neonatal care, many children go on to live healthy, fulfilling lives.

Preventive Measures and Maternal Care

While not all cases can be prevented, expectant mothers can lower risks with proper care:

1. Prenatal Care
   • Regular check-ups and ultrasounds for early detection.
2. Healthy Lifestyle Choices
   • Avoid smoking, alcohol, and recreational drugs.
   • Minimize exposure to harmful chemicals.
3. Nutrition & Supplements
   • Take folic acid before and during pregnancy.
   • Eat a balanced diet rich in leafy greens, legumes, and fortified cereals.
4. Genetic Counseling
   • Families with history of birth defects may benefit from counseling before conception.

Living with Gastroschisis

Families managing Gastroschisis often face both medical and emotional challenges.

Medical Support

• Regular follow-ups with pediatric specialists.
• Possible dietary adjustments for feeding and digestion.
• Physical therapy if developmental delays occur.

Emotional Support

• Parents may experience anxiety from frequent hospital visits.
• Support groups and counseling help families cope.
• Connecting with other parents provides reassurance and shared experiences.

Quality of Life

With proper care, many children with Gastroschisis grow up to lead normal, healthy lives. Ongoing support ensures they reach developmental milestones and enjoy active childhoods.

Conclusion

Gastroschisis (Gastroshiza) is a rare but treatable congenital condition. While it poses challenges at birth, advances in neonatal surgery, maternal care, and long-term support have made survival and recovery rates highly promising.

Key takeaways:

• Early prenatal detection is critical.
• Surgery shortly after birth is the main treatment.
• With proper care, most children thrive.
• Preventive maternal care reduces risks.

Raising awareness, supporting families, and encouraging maternal health are essential to improving outcomes worldwide.

FAQs About Gastroschisis (Gastroshiza)