By team 
Gastroshiza?
Gastroshiza is a rare congenital disorder that affects the abdominal wall of a developing fetus. It occurs when the baby’s abdominal muscles fail to close completely during pregnancy, leaving an opening through which the intestines or other abdominal organs may protrude outside the body. This condition is typically diagnosed early in pregnancy through routine prenatal ultrasounds and requires immediate medical attention after birth.
Although relatively uncommon, gastroshiza can have serious health implications if not treated promptly. Unlike omphalocele, another similar condition where the organs are covered by a protective membrane, in gastroshiza , the exposed organs are not protected by any sac, making them more vulnerable to infection and injury.
The exact cause of gastroshiza remains unknown, but it is believed to result from abnormal development of the abdominal wall during the first few weeks of pregnancy. While it can occur as an isolated condition, it may also be associated with other birth defects or genetic syndromes in some cases.
Babies born with gastroshiza often require surgical intervention shortly after birth to return the organs to the abdominal cavity and close the opening. The success of treatment depends on several factors, including the severity of the defect, whether there are complications such as intestinal damage or infection, and the overall health of the newborn.
In the following sections, we will explore the causes, symptoms, diagnostic methods, treatment options, and long-term outlook for babies affected by gastroshiza .
Causes of Gastroshiza
While the precise cause of gastroshiza is still under investigation, researchers believe it develops very early in pregnancy—typically between the 6th and 10th week of gestation. During this time, the abdominal wall should form properly around the digestive organs. In babies with gastroshiza , however, the muscles and tissues that make up the abdominal wall do not develop correctly, leading to a gap usually located to the side of the belly button.
Some potential contributing factors include:
- Genetic mutations : Certain chromosomal abnormalities or inherited conditions may increase the risk of gastroshiza .
- Environmental exposures : Maternal exposure to harmful substances such as alcohol, tobacco, or certain medications during pregnancy may play a role.
- Nutritional deficiencies : A lack of essential nutrients like folic acid during early pregnancy could contribute to developmental issues.
- Maternal age and health : Younger mothers (under 20 years old) seem to have a slightly higher risk of giving birth to a child with gastroshiza .
It’s important to note that gastroshiza is not caused by anything the mother did or didn’t do during pregnancy. It is a spontaneous developmental anomaly rather than a preventable condition.
Signs and Symptoms of Gastroshiza
The most noticeable sign of gastroshiza is the presence of abdominal organs—usually the intestines—protruding outside the baby’s body at birth. These organs are not enclosed in a protective sac, unlike in omphalocele, and are directly exposed to the environment.
Other common symptoms and physical characteristics may include:
- Swollen or discolored intestines
- Abdominal wall defect measuring 2–5 cm wide
- Lack of abdominal distension due to missing organs inside the cavity
- Increased risk of dehydration and hypothermia due to fluid loss and exposure
- Difficulty breathing if the abdominal contents press on the diaphragm
In some cases, especially with large defects, the baby may also experience gastrointestinal complications such as malrotation, intestinal atresia, or necrotizing enterocolitis later on.
Parents and healthcare providers can often identify gastroshiza immediately at birth due to the visible nature of the defect. However, many cases are already detected before delivery through prenatal imaging techniques.
Diagnosing Gastroshiza
Most cases of gastroshiza are diagnosed during routine prenatal checkups using ultrasound scans. Typically, it is first suspected during the second trimester, around 18 to 20 weeks of pregnancy, when the fetal anatomy is examined in detail.
During an ultrasound, doctors look for signs such as:
- Intestinal loops floating freely in the amniotic fluid
- Absence of a covering membrane over the organs
- Normal positioning of the umbilical cord insertion (which helps differentiate gastroshiza from omphalocele)
If gastroshiza is suspected, further tests may be ordered to assess the severity and rule out associated anomalies. These may include:
| Test | Purpose |
|---|---|
| Fetal MRI | Provides detailed images of the abdominal organs and surrounding structures |
| Amniocentesis | Used to check for chromosomal abnormalities or genetic disorders |
| Doppler flow studies | Assesses blood flow to the exposed organs and detects possible complications |
Once diagnosed, expectant parents are usually referred to a maternal-fetal medicine specialist and a pediatric surgeon to plan for delivery and postnatal care.
Treatment of Gastroshiza
The primary treatment for gastroshiza involves surgery to return the abdominal organs back into the body and close the defect. The timing and method of surgery depend on the size of the defect and the condition of the baby’s organs.
There are two main approaches to surgical repair:
1. Primary Closure
This is used for smaller defects where the organs can be gently placed back into the abdomen and the opening closed in one procedure. It is typically performed within the first 24–48 hours after birth.
2. Staged Repair
For larger defects or when the abdominal cavity is too small to accommodate the organs immediately, a staged approach is taken. A silo—a protective plastic bag—is placed over the exposed organs, and they are gradually returned to the abdomen over several days. Once all organs are inside, the abdominal wall is surgically closed.
After surgery, the baby is closely monitored in the neonatal intensive care unit (NICU). They may need help with feeding, breathing support, and infection prevention. Intravenous nutrition (TPN) is often required until the baby can tolerate oral or tube feedings.
Recovery and Long-Term Outlook
Recovery from gastroshiza varies depending on the severity of the defect and whether there were any complications such as infection or intestinal damage. Most infants require a hospital stay ranging from a few weeks to a couple of months.
Common challenges during recovery may include:
- Feeding difficulties due to delayed gastrointestinal function
- Slow weight gain
- Acid reflux or vomiting
- Bowel obstruction or motility issues
Despite these initial hurdles, the long-term prognosis for babies with gastroshiza is generally good. With proper medical care and follow-up, many children grow up to lead healthy, normal lives.
However, some may face ongoing gastrointestinal problems or require additional surgeries as they grow. Regular check-ups with pediatric surgeons, gastroenterologists, and nutritionists are often recommended to monitor development and address any emerging concerns.
Preventing Gastroshiza
Since the exact cause of gastroshiza is unknown, there is no guaranteed way to prevent it. However, adopting a healthy lifestyle before and during pregnancy can reduce the risk of various birth defects, including gastroshiza .
Here are some recommendations for expecting mothers:
- Take prenatal vitamins containing folic acid , which has been shown to reduce the risk of neural tube defects and possibly other congenital anomalies.
- Avoid alcohol, smoking, and illicit drugs during pregnancy.
- Maintain a balanced diet rich in fruits, vegetables, whole grains, and lean proteins.
- Attend all scheduled prenatal appointments for regular monitoring and screening.
- Manage chronic health conditions like diabetes or obesity, which may increase the risk of birth defects.
By taking these steps, pregnant women can support healthy fetal development and improve the chances of a complication-free pregnancy.
Living with Gastroshiza: Support and Resources
Families dealing with a diagnosis of gastroshiza may feel overwhelmed, but they are not alone. Numerous organizations and support groups offer guidance, emotional support, and practical resources for parents and caregivers.
Some helpful resources include:
- March of Dimes : Offers information on birth defects and ways to have a healthy pregnancy.
- Children’s Hospital Association : Provides access to expert care and educational materials about pediatric surgical conditions.
- Parent-to-parent support networks : Connect families with others who have experienced similar journeys.
- Local NICU support groups : Offer counseling and peer support during and after hospitalization.
Healthcare providers can also connect families with social workers, nutritionists, and mental health professionals who specialize in supporting families of children with complex medical needs.
Final Thoughts on Gastroshiza
Gastroshiza is a rare but treatable birth defect that requires prompt medical intervention. Although it presents significant challenges at birth, advances in neonatal surgery and critical care have greatly improved outcomes for affected infants.
Early diagnosis through prenatal imaging allows for careful planning and coordinated care, increasing the likelihood of successful treatment. With appropriate surgical management and ongoing follow-up, most children with gastroshiza go on to live full, active lives.
For parents, understanding the condition, staying informed about treatment options, and seeking support can make a big difference in navigating this journey. If you suspect your child may have gastroshiza , consult your healthcare provider for guidance and referrals to specialized care centers.