Introduction

Gastroshiza is a rare but severe congenital abdominal wall defect that occurs during fetal development. Gastroshiza is the herniation of the intestines (and sometimes other structures such as the stomach or liver) through a wall opening to the side of the navel (most commonly to the right), without any covering sac around the organs. As compared to omphalocele, where the organs are enveloped by a membrane, Gastroshiza exposes internal organs to naked amniotic fluid, which is prone to irritation and trauma.

Epidemiology and Risk Factors of Gastroshiza

Gastroshiza happens in approximately 1 out of every 2,000 to 4,000 live births, and its occurrence raises globally in the recent decades. Epidemiological data indicate the following risk factors:

• Age of the mother younger than 20 years.
• Low socio-economic level
• Smoking, alcohol, or drug use in pregnancy
• Inadequate diet during pregnancy
• Contact with environmental teratogens

Most interestingly, there is no established strong genetic correlation with gastrochisis, distinguishing it from most other congenital malformations. Nonetheless, some familial patterns provide evidence that gene-environment interactions may have a latent effect.

Pathogenesis: What Causes Gastroshiza?

The exact etiology of Gastroshizas is not established, but it is believed to be the result of vascular disruption in early embryonic life, precisely of the right omphalomesenteric artery. This vessel failure results in the incompletely formed abdominal wall, with intestines herniating through a paraumbilical defect.

In comparison to omphalocele, the umbilical cord is intact on insertion, and herniated viscera are left uncovered, with direct exposure to amniotic fluid leading to inflammation, thickening, and functional loss of the intestine.

Clinical Presentation: Signs and Symptoms at Birth

Gastroshiza is usually asymptomatic during pregnancy, and the condition does not affect fetal growth or movement to any significant degree unless complicated by intestinal atresia or volvulus. The principal signs are visual and immediately apparent on delivery:

• Protruding intestines (and occasionally stomach or liver)
• No overlying membrane
• Red, edematous, and potentially twisted bowel loops
• Distended abdomen

Early diagnosis and treatment are critical to prevent life-threatening complications.

Prenatal Diagnosis and Imaging Techniques

Gastroshiza is most commonly diagnosed on routine prenatal sonography, typically in the second trimester. Sonographic findings are:

Free-floating bowel loops outside the fetal abdomen

Normally inserted umbilical cord

No enveloping membrane (distinguishing from omphalocele)

More advanced imaging technologies like fetal MRI may provide information on organ involvement and complications such as bowel dilatation or ischemia.

Maternal serum alpha-fetoprotein (AFP) levels are routinely elevated due to fetal protein loss via exposed intestines into amniotic fluid, which aids in earlier diagnosis.

Perinatal Management: Delivery Planning

Gastroshiza must be properly cared for by a multidisciplinary team involving obstetricians, neonatologists, and pediatric surgeons. Delivery planning must consider:

Best timing (ideally at 37–38 weeks to avoid bowel damage)

Mode of delivery – vaginal delivery is generally safe, but cesarean can be performed in complicated situations

Availability of NICU and surgical staff

Immediate postnatal care consists of covering the exposed viscera, preventing fluid loss and infection, and stabilizing the infant before surgery.

Surgical Treatment of Gastroshiza

Surgery needs to be performed within hours of birth. Objectives are:

Repositioning the herniated intestines back into the abdominal cavity

Closure of the defect in the abdominal wall

Two simple surgical techniques are utilized:

Primary Closure
In which the abdominal cavity is roomy enough to accommodate the organs without hindering respiration, the surgeon performs a one-stage closure. It is usually optimum for those infants with little or no bowel swelling and inflammation.

Staged Closure with a Silo
If the bowel is too stretched or the belly is too tight, a silo bag (sterile, transparent plastic pouch) is sewn over the exposed organs. Gradually over a few days, the bowel is pushed back into the belly, and then the defect is closed in operation.

This method reduces intraperitoneal pressure and reduces risks of respiratory failure or compartment syndrome.

Postoperative Care and Long-Term Outlook

Following surgery, infants require intensive supportive therapy, which involves:

• Mechanical ventilation (if required)
• Parenteral nutrition until bowel function returns
• Resumption of oral feeds gradually

Observation for complications like infection, adhesions, or bowel obstruction

The majority of the infants recover well and resume normal gastrointestinal function, but others may experience:

• Feeding troubles
• Slowed growth and development
• Gastroesophageal reflux
• Increased duration of hospital stay

With adequate care, survival rates are over 90%, especially in centers with high resources and facilities for specialized neonatal surgical units.

Prognosis and Quality of Life

The prognosis of Gastroshiza is improved with present medical therapy. Long-term prognosis is determined based on:

• Presence of other anomalies
• Degree of bowel involvement
• Timeliness and success of repair

The majority of children with Gastroshiza are capable of living normal and healthy lives, if no severe bowel injury or short gut syndrome occurs.

Preventive Actions and Parental Counseling

Although prevention of gastrochisis cannot be achieved, elimination of risk factors can decrease the occurrence:

• Avoid smoking, alcohol, and drug use during pregnancy
• Healthy prenatal diet
• Regular prenatal checkups and early ultrasound

Parents need to go through extensive counseling pre, during, and post-pregnancy, which includes genetic counseling, emotional counseling, and education on the condition as well as treatment thereof.

Conclusion:

Gastroshiza, while complicated and dangerous if not treated, is a reversible condition with good chances for survival under proper management. Early diagnosis, accurate surgical repair, and coordinated management among specialists are key to providing the optimal outcomes for involved infants.