GeneHealth - Your precision medicine

Gastroschisis

Disease Details

Family Health Simplified

Buy Membership

Description: Gastroschisis is a birth defect where an infant's intestines extend outside of the body through a hole near the belly button.
Type: Gastroschisis is a structural birth defect. It is not typically associated with a specific hereditary genetic transmission and is generally considered sporadic. The exact cause is unclear, but it is believed to result from a combination of genetic and environmental factors.
Signs And Symptoms: There are no signs during pregnancy. About sixty percent of infants with gastroschisis are born prematurely. At birth, the baby will have a relatively small (<4 cm) hole in the abdominal wall, usually just to the right of the belly button. Some of the intestines are usually outside the body, passing through this opening. In rare circumstances, the liver and stomach may also come through the abdominal wall. After birth these organs are directly exposed to air.
Prognosis: If left untreated, gastroschisis is fatal to the infant; however, in adequate settings the survival rate for treated infants is 90%.Most risks of gastroschisis are related to decreased bowel function. Sometimes blood flow to the exposed organs is impaired or there is less than the normal amount of intestine. This may put infants at risk for other dangerous conditions such as necrotizing enterocolitis. Also, because their intestines are exposed, infants with gastroschisis are at increased risk for infection, and must be closely monitored.After surgery a child with gastroschisis will have some degree of intestinal malrotation. About 1% of children will experience a midgut volvulus after surgery.
Onset: Gastroschisis is a congenital condition, meaning it is present at birth. It is characterized by a defect in the abdominal wall through which the intestines and sometimes other organs can protrude outside the baby's body. This defect occurs early during fetal development, typically within the first trimester. Detection often occurs during routine prenatal ultrasounds.
Prevalence: Gastroschisis is a congenital defect characterized by an opening in the abdominal wall through which the intestines and sometimes other organs protrude outside the fetus's body. The prevalence of gastroschisis varies but is generally estimated to occur in approximately 1 in 2,000 to 1 in 4,000 live births. The condition is more commonly observed in younger mothers, particularly those under the age of 20.
Epidemiology: As of 2015 the worldwide incidence was about 2 to 5 per 10,000 live births, and this number seemed to be increasing.As of 2017 the CDC estimates that about 1,871 babies are born each year in the United States with gastroschisis.
Intractability: Gastroschisis is a congenital defect where the baby's intestines extend outside of the body through a hole in the abdominal wall. It is not considered intractable. Many cases can be successfully treated with surgical intervention shortly after birth. However, long-term complications and outcomes can vary depending on the severity of the condition and associated health issues.
Disease Severity: Gastroschisis is a congenital defect where an infant is born with the intestines protruding outside of the body through a hole near the belly button. The severity of the disease can vary:

- **Mild**: Smaller opening with minimal exposure of intestines.
- **Moderate to Severe**: Larger opening with more extensive exposure, potentially including other organs like the stomach and liver.

Severity is influenced by the extent of the protrusion and any complications such as infection or damage to the exposed organs. Immediate surgical intervention is typically required to place the organs back into the abdomen and close the opening. Prognosis generally depends on the promptness and success of surgical treatment as well as the presence of any other anomalies or complications.
Healthcare Professionals: Disease Ontology ID - DOID:11044
Pathophysiology: During the fourth week of human embryonic development, the lateral body wall folds of the embryo meet at the midline and fuse together to form the anterior body wall. However, in gastroschisis and other anterior body wall defects, this fails to occur by either one or both of the lateral body wall folds not moving properly to meet with the other and fusing together. This incomplete fusion results in a defect that allows abdominal organs to protrude through the abdominal wall, and the intestines typically herniate through the rectus abdominis muscle, lying to the right of the umbilicus. The forces responsible for the movement of the lateral body wall folds are poorly understood, and a better understanding of these forces would help to explain why gastroschisis occurs mostly to the right of the umbilicus, while other ventral body wall defects occur in the midline.At least six hypotheses have been proposed for the pathophysiology:

Failure of mesoderm to form in the body wall
Rupture of the amnion around the umbilical ring with subsequent herniation of bowel
Abnormal involution of the right umbilical vein leading to weakening of the body wall and gut herniation
Disruption of the right vitelline (yolk sac) artery with subsequent body wall damage and gut herniation
Abnormal folding of the body wall results in a ventral body wall defect through which the gut herniates
Failure to incorporate the yolk sac and related vitelline structures into the umbilical stalkThe first hypothesis does not explain why the mesoderm defect would occur in such a specific small area. The second hypothesis does not explain the low percentage of associated abnormality compared with omphalocele. The third hypothesis was criticized due to no vascular supplement of anterior abdominal wall by umbilical vein. The fourth hypothesis was commonly accepted, but it was later shown that the right vitelline artery (right omphalomesenteric artery) did not supply the anterior abdominal wall in this area. More evidence is needed to support the fifth hypothesis.
Carrier Status: Gastroschisis is a congenital defect where an infant's intestines are found outside of the body, exiting through a hole beside the belly button. There is no carrier status associated with this condition as it is not typically inherited or linked to specific genetic carriers. The exact cause is often unknown.
Mechanism: Gastroschisis is a congenital condition characterized by a defect in the abdominal wall through which the intestines and sometimes other organs protrude outside the infant's body. Here are the pertinent mechanisms associated with gastroschisis:

### Mechanism:
The primary mechanism involves an incomplete closure of the abdominal wall during fetal development. Typically, this defect occurs to the right of the umbilical cord. The exact cause is not well understood, but it results in the abdominal organs developing outside of the body or herniating through the defect.

### Molecular Mechanisms:
1. **Genetic Factors**: Current research points to a multifactorial etiology involving both genetic and environmental factors. While there is no single gene identified, variations in certain genes may increase the susceptibility to gastroschisis.

2. **Vascular Disruption**: Hypotheses suggest that disruption in the blood supply to the developing abdominal wall could contribute to the defect. This could be due to abnormal development or injury to the right umbilical vein or the omphalomesenteric artery, leading to ischemia and defective formation of the abdominal wall.

3. **Environmental Influences**: Factors such as maternal smoking, use of certain medications, drug abuse, or exposure to environmental toxins during pregnancy have been associated with an increased risk of gastroschisis. These factors might contribute to oxidative stress or other molecular pathways influencing vascular and tissue development.

4. **Epigenetic Modifications**: Alterations in gene expression without changes in DNA sequence, possibly due to environmental factors, might play a role in the development of gastroschisis. These could involve DNA methylation and histone modification patterns affecting genes critical for abdominal wall formation.

Currently, more research is ongoing to identify precise molecular mechanisms and genetic contributors to better understand and potentially prevent gastroschisis.
Treatment: Gastroschisis requires surgical treatment to return the exposed intestines to the abdominal cavity and close the hole in the abdomen. Sometimes this is done immediately but more often the exposed organs are covered with sterile drapings, and only later is the surgery done. Affected newborns frequently require more than one surgery, as only about 10% of cases can be closed in a single surgery.: 1141–1142 Given the urgent need for surgery after birth, it is recommended that delivery occur at a facility equipped for caring for these high-risk neonates, as transfers to other facilities may increase risk of adverse outcomes. There is no evidence that cesarean deliveries lead to better outcomes for babies with gastroschisis, so cesarean delivery is only considered if there are other indications.The main cause for lengthy recovery periods is the time taken for the infant's bowel function to return to normal. After surgery infants are fed through IV fluids and gradually introduced to normal feeding.
Compassionate Use Treatment: Gastroschisis is a birth defect where an infant's intestines extend outside of the body through a hole in the abdominal wall. The primary treatment for gastroschisis is usually surgical repair shortly after birth.

Regarding compassionate use and off-label or experimental treatments:

1. **Compassionate Use Treatment**:
- This involves accessing treatments that are still investigational and not yet approved by regulatory authorities. These treatments may be considered when conventional therapies are either unavailable or ineffective, and the condition is life-threatening or severely debilitating. In the case of gastroschisis, while surgery remains the mainstay, supportive measures might qualify for compassionate use if they fall within these criteria.

2. **Off-label or Experimental Treatments**:
- **Amniotic banding or covering**: Attempts to use synthetic or biological coverings antenatally to protect the exposed intestines.
- **Stem cell therapy**: Research is exploring the potential of stem cells to promote tissue repair and reduce complications.
- **Novel surgical techniques**: Advances in minimally invasive surgical methods are being tested to improve outcomes and reduce recovery time.

It's important to note that these treatments are highly specialized and should be discussed with a team of medical professionals specializing in neonatal care and pediatric surgery.
Lifestyle Recommendations: For individuals managing gastroschisis, lifestyle recommendations include:

1. **Dietary Management**: Ensure a balanced diet rich in essential nutrients. High-calorie, high-protein foods may be necessary to meet increased nutritional demands.

2. **Hydration**: Maintain proper hydration to support overall health and aid in digestive processes.

3. **Monitoring Growth and Development**: Regular check-ups with healthcare providers to monitor growth, development, and nutritional status.

4. **Pain Management**: Follow prescribed pain management strategies, which may include medication or specific techniques advised by a healthcare professional.

5. **Infection Prevention**: Practice good hygiene and follow any specific care instructions to prevent infections, especially in surgical areas.

6. **Psychological Support**: Consider counseling or support groups for emotional and psychological well-being, both for the affected individuals and their families.

7. **Regular Follow-ups**: Adherence to scheduled medical appointments for continuous monitoring of the condition and timely intervention if complications arise.

Each case may vary, so these recommendations should be tailored to individual needs and discussed with healthcare providers.
Medication: Gastroschisis is a congenital defect in which an infant's intestines extend outside of the body through a hole in the abdominal wall. Treatment typically involves surgical intervention shortly after birth to place the intestines back into the abdominal cavity and close the defect. There is no specific medication to treat gastroschisis itself, but postoperative care may include:

1. **Pain management:**
- **Analgesics** such as acetaminophen or opioids may be used to manage pain.

2. **Antibiotics:**
- To prevent or treat infection post-surgery.

3. **Total parenteral nutrition (TPN):**
- Provided intravenously to ensure the infant receives adequate nutrition while the intestines recover and gradually resume normal function.

Careful monitoring and supportive care in a neonatal intensive care unit (NICU) are crucial for the recovery and prognosis of infants with gastroschisis.
Repurposable Drugs: For gastroschisis, a congenital condition in which an infant's intestines are found outside of the body due to a hole in the abdominal wall, there are no specific repurposable drugs for treatment. This condition is typically managed with surgical intervention shortly after birth to place the intestines back inside the abdomen and close the defect. Supportive care, including feeding support and infection prevention, is critical during the postoperative period.
Metabolites: Gastroschisis is a congenital defect in the abdominal wall through which the intestines and sometimes other organs protrude outside the body. It is not directly associated with specific metabolites. However, prenatal screening for gastroschisis typically involves imaging techniques such as ultrasound rather than metabolic analysis. In cases of gastroschisis, abnormal metabolites are not commonly tracked for diagnosis or monitoring. Instead, the emphasis is on managing potential complications like nutrient malabsorption, which may require nutritional support and thorough medical monitoring after birth.
Nutraceuticals: Nutraceuticals are not typically a focus in the management or treatment of gastroschisis. Gastroschisis is a congenital defect where the baby's intestines are found outside of the body, exiting through a hole beside the belly button. The primary treatment for gastroschisis is surgical intervention shortly after birth to place the intestines back inside the abdomen and close the defect. Nutritional support may be given via total parenteral nutrition (TPN) until the intestines function properly, but specific nutraceuticals are generally not part of standard medical care for this condition.
Peptides: Gastroschisis is a birth defect where an infant's intestines are found outside of the body, exiting through a hole beside the belly button. This condition typically requires surgical intervention soon after birth to place the organs back inside and close the opening. Peptides and nanotechnology are not commonly implicated in current standard treatments or understanding of gastroschisis, which primarily involves surgical correction and supportive neonatal care.