Gastroschisis: Symptoms, Types, Causes and Treatment

Gastroschisis is a rare but increasingly encountered congenital defect where a baby is born with their intestines—and sometimes other abdominal organs—protruding outside their body through an opening in the abdominal wall. This condition requires prompt medical attention and can be life-threatening without proper intervention. Understanding the symptoms, types, causes, and treatment options for gastroschisis is crucial for both healthcare providers and families affected by this condition.

Symptoms of Gastroschisis

Gastroschisis typically presents striking and unmistakable symptoms right at birth. Early recognition is vital, as timely intervention can significantly improve outcomes.

Symptom	Description	Onset	Source
Abdominal Wall Defect	Opening near umbilicus with exposed bowel	At birth	2 5
No Protective Sac	Organs not covered by a membrane	At birth	2
Bowel Inflammation	Swollen, thickened, inflamed intestines	At birth	12
Feeding Difficulties	Trouble tolerating feeds, delayed feeding	After birth	1 8

Table 1: Key Symptoms

Visual and Clinical Presentation

The most apparent symptom is a visible defect in the abdominal wall, usually to the right of the umbilicus, with loops of intestine (and occasionally other organs) protruding through the opening. Unlike a similar condition called omphalocele, in gastroschisis, these organs are not covered by a protective sac, leaving them directly exposed to the amniotic fluid in the womb and, after birth, to the outside environment 2 5.

Affected intestines often appear thickened and inflamed due to prolonged exposure to amniotic fluid, which can damage the bowel lining 12. This exposure can also increase the risk of infection and sepsis, making prompt surgical care essential.

Functional Symptoms After Birth

Infants with gastroschisis frequently experience feeding difficulties. They may struggle to absorb nutrients or tolerate oral feeds, often requiring intravenous nutrition initially. Complications such as delayed bowel function, swelling, and sometimes obstruction can further complicate feeding 1 8. Additional signs may include:

• Abdominal distension
• Vomiting
• Failure to pass meconium (first stool)
• Signs of dehydration or electrolyte imbalance if bowel function is severely compromised

In summary, gastroschisis is primarily identified by the unmistakable appearance of exposed intestines at birth, combined with secondary symptoms related to bowel function and feeding.

Types of Gastroschisis

Not all gastroschisis cases are the same. Distinguishing between types is important because it affects prognosis, management, and outcomes.

Type	Description	Prevalence	Source
Simple	No associated bowel complications	~83%	1
Complex	Atresia, necrosis, perforation, volvulus	~17%	1 10
Atypical Location	Defect not right of umbilicus (rare)	Very rare	2

Table 2: Types of Gastroschisis

Simple vs. Complex Gastroschisis

Simple gastroschisis is the more common type, comprising about 83% of cases. In these infants, the defect is present but the bowel is otherwise structurally intact, with no major additional complications. These patients tend to have better outcomes and lower mortality rates 1.

Complex gastroschisis refers to cases where the exposed bowel suffers additional complications, such as:

• Intestinal atresia: A segment of the intestine is missing or blocked
• Bowel necrosis: Portions of the bowel have died due to compromised blood flow
• Perforation: There are holes in the bowel
• Volvulus: Twisting of the bowel, which can cut off blood supply

Complex gastroschisis is seen in about 17% of cases and is associated with significantly higher morbidity and mortality. These infants are more likely to experience sepsis, require prolonged hospital stays, need parenteral (intravenous) nutrition, and face ongoing feeding challenges 1 10. Some may develop short bowel syndrome if significant portions of intestine are lost.

Rare and Atypical Forms

While the defect is most often located to the right of the umbilicus, rare cases have been reported with atypical locations, such as midline or even left-sided defects. Supraumbilical (above the umbilicus) gastroschisis is extremely rare and may require tailored surgical techniques 2.

Clinical Implications

• Simple cases: Generally have a high survival rate and better long-term outcomes.
• Complex cases: Require more intensive care, have a higher risk of complications, and may need additional surgeries or long-term nutritional support.

Recognizing the type of gastroschisis early helps in planning the appropriate management strategy and in counseling families about prognosis.

Causes of Gastroschisis

Despite advances in medical science, the precise cause of gastroschisis remains elusive. However, various theories and risk factors have been explored.

Cause/Theory	Description	Supporting Evidence	Source
Vascular Disruption	Interrupted blood supply to abdominal wall	Embryological data	3 4 7
Young Maternal Age	Higher risk in teenage pregnancies	Epidemiological	4 5 6
Non-Genetic Factors	Drugs, environmental exposures, etc.	Limited evidence	5 6
Genetic Factors	Some familial clustering observed	Case studies	5 6

Table 3: Proposed Causes and Risk Factors

Embryological and Vascular Theories

Several theories attempt to explain the embryological development of gastroschisis:

• Vascular disruption hypothesis: Suggests that an interruption in blood supply, particularly involving the omphalomesenteric (vitelline) artery, leads to localized damage and a defect in the abdominal wall 3 4.
• Abnormal body wall folding: Proposes that improper folding during embryogenesis causes a ventral wall defect, through which intestines herniate 4.
• Rupture of the amnion or involution of umbilical vessels: These mechanisms are also considered possible contributors but lack definitive proof 4 7.

All these hypotheses focus on disruptions during early fetal development that result in the characteristic abdominal wall opening.

Maternal and Environmental Risk Factors

• Young maternal age is the most consistently identified risk factor, with teenage mothers at a significantly higher risk of having a child with gastroschisis 4 5 6.
• Non-genetic factors such as exposure to certain medications, recreational drugs, or environmental chemicals have been investigated, but no specific agent has been definitively linked to increased risk 5 6.
• Genetic predisposition is possible, as some familial clustering is observed, but gastroschisis is not typically considered a genetic disorder 5 6.

Increasing Prevalence

Interestingly, the incidence of gastroschisis appears to be rising, especially in developed countries. This trend remains unexplained and is a subject of ongoing research 4 5.

Summary

While the exact cause of gastroschisis is not fully understood, it likely results from a combination of vascular, developmental, and possibly environmental factors, with young maternal age standing out as the most significant risk factor.

Treatment of Gastroschisis

Managing gastroschisis is a complex, multidisciplinary process that starts at birth and can extend for months, depending on the severity and type.

Treatment	Approach/Technique	Purpose/Outcome	Source
Silo Placement	Staged closure using a sterile silo bag	Gradual bowel reduction	2 8 9
Primary Closure	Immediate surgical closure of abdominal wall	Fastest repair	8 9
Parenteral Nutrition	IV feeding due to bowel dysfunction	Nutritional support	1 8
Surgical Repair of Complications	Atresia, necrosis, etc.	Restore bowel function	10
Infection Control	Antibiotics, sterile care	Prevent/treat sepsis	1 8 12

Table 4: Treatment Modalities

Initial Stabilization

After birth, immediate priorities include:

• Protecting the exposed intestines with sterile, moist coverings
• Maintaining body temperature
• Starting intravenous fluids and antibiotics to prevent infection

Surgical Management

There are two main surgical strategies:

Silo Placement (Staged Closure):

• A sterile silo bag is placed over the exposed intestines.
• Over several days, the intestines are gradually moved back into the abdomen, and the abdominal wall is then closed surgically.
• This method is often chosen if the bowel is very swollen or if there is not enough room in the abdomen for immediate closure 2 8 9.

Primary Closure:

• The intestines are returned to the abdomen, and the opening is closed in a single procedure.
• Suitable for cases where the bowel is less swollen, and the abdominal cavity can accommodate the intestines safely 8 9.

Meta-analyses suggest that outcomes can vary depending on patient selection. In some studies, silo closure is associated with fewer infections and faster recovery of bowel function, but primary closure may be quicker in selected cases 9. Ultimately, the choice is individualized based on the infant’s condition 8.

Managing Complications

• Complex gastroschisis requires additional surgeries to address bowel atresia, perforation, or necrosis 1 10.
• Short bowel syndrome patients may need long-term parenteral nutrition and, in some cases, further surgical interventions (e.g., tapering enteroplasty, stoma creation) to optimize bowel function 10.
• Sepsis and infection control are critical due to the high risk in complex cases; meticulous care of central lines and surgical sites is essential 1 8 12.

Nutritional Support

• Most infants cannot feed by mouth immediately after surgery and require parenteral nutrition.
• The transition to enteral (oral or tube) feeding is gradual and depends on bowel recovery 1 8.
• Some infants with complex gastroschisis may go home with feeding tubes or intravenous nutrition 1.

Experimental Therapies

Research is ongoing into ways to minimize bowel damage prior to birth, including the use of nitric oxide donors in animal models, which show promise in reducing inflammation and improving bowel health 12.

Long-term Outlook

• Simple gastroschisis: Most infants recover well, with normal growth and development.
• Complex gastroschisis: Outcomes are more variable, with higher risks of long-term feeding issues, growth delays, and hospital readmissions 1 10.

Conclusion

Gastroschisis is a challenging congenital condition with significant impact on affected infants and their families. Early recognition, individualized treatment, and ongoing research are key to improving outcomes.

Key Takeaways:

• Gastroschisis presents with exposed intestines at birth, usually without a protective sac.
• It is categorized into simple and complex types, with complex cases needing more intensive care and having higher risks.
• The exact cause is unknown, but young maternal age is the most consistent risk factor; vascular and developmental theories predominate.
• Treatment involves prompt surgical intervention, nutritional support, and careful management of complications.
• Most infants with simple gastroschisis do well, but complex cases require long-term, multidisciplinary care.

Ongoing research into causes, prevention, and improved therapies continues to shape the future of gastroschisis care, offering hope for better outcomes for all affected children.