Gastroshiza – Causes, Symptoms, Treatment, and Prevention

Gastroshiza is a congenital birth defect that affects thousands of newborns worldwide each year. In this condition, a baby is born with the intestines outside the body due to an opening in the abdominal wall. While the condition can look alarming, advances in prenatal diagnosis and neonatal surgery have greatly improved survival rates. Understanding Gastroshiza is essential for parents, caregivers, and healthcare providers because early detection and proper treatment make a huge difference in outcomes.

This guide takes you through every important aspect of Gastroshiza—from its causes and symptoms to diagnosis, treatment options, prevention, and long-term outlook.

What is Gastroshiza?

Gastroshiza (sometimes spelled gastroschisis) is a congenital abdominal wall defect. During fetal development, the abdominal wall fails to close completely, leaving an opening—usually to the right of the umbilical cord. Through this gap, the baby’s intestines protrude outside the body. Unlike other defects such as omphalocele, Gastroshiza does not involve a protective sac covering the intestines, which increases the risk of infection and fluid loss.

Key differences between Gastroshiza and Omphalocele:

Historically, Gastroshiza was once considered rare, but cases have been rising over the last few decades, particularly in younger mothers. This rise makes awareness and education even more important.

Causes of Gastroshiza

Doctors still don’t fully understand what causes Gastroshiza, but research points to a mix of genetic and environmental influences. Unlike many congenital conditions, Gastroshiza is usually not hereditary. Instead, it seems to develop due to disrupted blood supply to the abdominal wall during early pregnancy.

Genetic Links to Gastroshiza

• No single gene has been confirmed as the cause. 
• However, studies suggest a combination of genes might increase susceptibility. 
• Unlike chromosomal disorders, most babies with Gastroshiza have no other major genetic conditions. 

Environmental Triggers

Research suggests maternal health and environment play a significant role:

• Young maternal age: Mothers under 20 are at higher risk. 
• Poor nutrition: Lack of folic acid and zinc can increase chances. 
• Substance exposure: Smoking, alcohol, and recreational drugs raise the risk. 
• Medication use: Certain prescriptions taken during early pregnancy may contribute. 
• Socioeconomic factors: Limited access to prenatal care increases occurrence. 

Case Study: A 19-year-old mother in a rural community delivered a baby with Gastroshiza. She reported limited prenatal care and a diet lacking in fresh fruits and vegetables. While no direct genetic cause was found, environmental and nutritional factors were suspected contributors.

Symptoms and Diagnosis 

Symptoms at Birth

Babies with Gastroshiza are born with intestines visibly protruding through the abdominal wall. Sometimes other organs, like the stomach or liver, may also extend outside the body in severe cases. Common symptoms include:

• Exposed intestines without a protective covering 
• Difficulty feeding 
• Dehydration and fluid loss 
• Risk of infection due to exposure 

Prenatal Screening 

Gastroshiza is often diagnosed during pregnancy through:

• Ultrasound: As early as 18–20 weeks, doctors may notice intestines floating outside the baby’s body. 
• Maternal blood tests: Elevated alpha-fetoprotein (AFP) levels can indicate abdominal wall defects. 

Postnatal Diagnosis of Gastroshiza

If not detected prenatally, the condition is immediately visible at birth. Doctors confirm diagnosis with:

• Physical examination 
• Imaging scans (X-ray, ultrasound) to assess organ involvement 

Complications of Gastroshiza

Gastroshiza can lead to serious complications if untreated. These include:

• Infection: Exposed organs are highly vulnerable. 
• Dehydration: Fluid loss from exposed intestines can be life-threatening. 
• Breathing difficulties: Swollen intestines can press on the lungs. 
• Digestive issues: Intestinal twisting or blockage may occur. 

Long-term complications may include:

• Short bowel syndrome (if parts of intestine are removed) 
• Feeding problems 
• Growth delays 

Despite these risks, most babies treated promptly go on to live healthy lives.

Treatment Options for Gastroshiza

The treatment of Gastroshiza begins immediately after birth. Doctors cover the exposed organs with a sterile material to prevent infection and fluid loss. Then, surgical repair is planned.

Primary Repair Surgery

• Surgeons return the intestines to the abdominal cavity. 
• The abdominal wall is closed in one procedure. 
• This method is used when swelling is minimal and the cavity can safely accommodate the organs. 

Staged Repair for Gastroshiza

• In severe cases, surgeons use a silo bag (a sterile pouch) to gradually return the intestines over several days. 
• Once swelling reduces, the abdominal wall is closed. 

Post-Surgery Care for Gastroshiza Patients

• Infants are placed in the NICU for monitoring. 
• Nutrition is provided intravenously until the intestines function properly. 
• Antibiotics prevent infections. 
• Continuous monitoring ensures no complications such as intestinal blockages. 

Quote from a Pediatric Surgeon:
“Early surgical intervention combined with NICU support has dramatically improved Gastroshiza survival rates, making this once-deadly condition highly treatable today.”

Prevention.

While not all cases are preventable, risk reduction is possible through maternal health and lifestyle improvements:

• Prenatal vitamins: Regular intake of folic acid, zinc, and iron. 
• Healthy diet: Fresh fruits, vegetables, whole grains, and lean proteins. 
• Avoid harmful substances: No smoking, alcohol, or illicit drugs. 
• Regular prenatal check-ups: Ultrasound and maternal screenings help with early detection. 
• Public health awareness: Campaigns encouraging young mothers to seek medical care. 

Living with Gastroshiza – Long-Term Outlook

Children who undergo successful Gastroshiza repair often grow up healthy. Most reach normal developmental milestones, though some may need ongoing care for digestive issues.

Positive outcomes include:

• Normal life expectancy 
• Minimal long-term complications in most cases 
• Ability to attend school, play sports, and live active lives 

Families can benefit from support groups and counseling to cope with the emotional and financial stress of treatment.

Frequently Asked Questions About Gastroshiza

Can Gastroshiza be detected early in pregnancy?
Yes, it can usually be detected through ultrasound around 18–20 weeks.

What is the survival rate for infants with Gastroshiza?
With modern surgery and NICU care, survival rates exceed 90%.

Is Gastroshiza hereditary?
Most cases are not hereditary, though genetics may play a minor role.

Can Gastroshiza be prevented completely?
Not completely, but maternal health choices can reduce risk.

Conclusion – Spreading Awareness About Gastroshiza

Gastroshiza may seem frightening, but with early diagnosis, advanced surgery, and specialized care, most affected babies grow into healthy children. Awareness is the first step toward prevention, treatment, and support for families facing this condition.

By encouraging maternal health, promoting prenatal care, and spreading accurate information, society can continue to improve outcomes for infants born with Gastroshiza.