Abdominal wall defect
An abdominal wall defect is a congenital opening in the abdomen that allows internal organs to protrude, typically diagnosed early in fetal development.
Overview
An abdominal wall defect is an opening in the abdomen through which various organs can protrude. There are two primary types:
- Omphalocele: An opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs, typically the liver, protrude into the umbilical cord and are covered by a protective membrane.
- Gastroschisis: A defect usually to the right of the umbilical cord through which the large and small intestines protrude. There is no protective membrane covering these organs.
Associated Health Concerns
Fetuses with omphalocele may experience intrauterine growth retardation and premature birth. Because abdominal organs normally provide a framework for chest wall growth, their displacement can lead to underdeveloped lungs and respiratory insufficiency. Infants may also experience gastrointestinal issues, such as backflow of stomach acids (gastroesophageal reflux) and feeding difficulties. Omphalocele is often associated with other genetic syndromes, including trisomy or Beckwith-Wiedemann syndrome.
With gastroschisis, the exposed organs are susceptible to damage from amniotic fluid, which can trigger inflammatory reactions. This may impair the muscle contractions required for digestion (peristalsis). While most individuals recover well after repair, some may develop complications like intestinal atresia or short bowel syndrome, which may require intravenous feedings.
Causes
No specific genetic mutations are known to cause abdominal wall defects; rather, they result from errors in fetal development influenced by multiple genetic and environmental factors.
- Omphalocele occurs when the intestines fail to recede back into the abdomen during the sixth to tenth weeks of fetal development.
- Gastroschisis is thought to result from a disruption in blood flow to the digestive tract or injury to gastrointestinal tissue early in development. Risk factors may include maternal smoking or the use of vasoconstrictive drugs, though these are not confirmed.
Inheritance
Most cases are sporadic, occurring in individuals with no family history of the disorder. When an abdominal wall defect is a feature of a specific genetic condition, it follows the inheritance pattern of that condition.