Abdominal wall defects constitute a broad spectrum of congenital malformations due to abnormal development of the fetal abdominal wall. As a result of the defect present, they affect a number of gastrointestinal organs and can also have effects on other systems like the pulmonary system. Currently there is no fetal intervention for these defects, however, the main stay for their management is postnatally once the baby is born.
Types of Abdominal Wall Defects
Bladder exstrophy due to failure of the caudal aspect of the abdominal wall to form. These babies have defects involving the bladder, abdominal wall, perineum (the area between the anus and the scrotum or vulva), genitals and pelvis. In this condition, the bladder is exposed through the defect in the abdominal wall and is seen protruding from the body, which can affect muscular, neurological and urinary function if not treated.
Body-stalk anomaly is a severe abdominal wall defect that results in the absence or shortening of the umbilical cord. In this condition, the abdominal organs lie outside the abdominal cavity and attach directly to the placenta. Body-stalk anomaly is the rarest and most severe of fetal abdominal wall defects and is considered to be fatal.
Cloacal exstrophy represents a spectrum of rare anomalies that prevent normal development of a baby’s lower abdominal wall resulting in exposure of the intestines, and bladder. Babies with cloacal exstrophy may also have an imperforate anus, which means the opening to the anus is missing or blocked. There are also a number of other defects associated with this condition, which may require extensive intervention and reconstruction before and after birth.
Babies with ectopia cordis are born with their hearts partially or completely outside of their bodies. There are usually other organ structures that also develop abnormally. Ectopia cordis often coexists with additional heart defects as well as abdominal wall defects.
Gastroschisis is a hole in the abdominal wall, which allows a baby’s intestines to protrude outside of the abdominal cavity. Gastroschisis is almost always located immediately to the right of the insertion of the umbilical cord. The hole can also be much larger, which may also cause the stomach, liver or other organs to be exposed.
An omphalocele is a birth defect where abdominal organs protrude from the belly and lie exposed outside the abdomen. The organs, usually the intestines and liver, are covered in a thin sac. Associated abnormalities can include a smaller-than-normal abdominal cavity or lungs, organ damage or infection (especially if the sac holding the intestines ruptures).
Pentalogy of Cantrell
Pentalogy of Cantrell is a rare and severe abdominal wall defect that consists of five abnormalities:
- Midline abdominal wall defect, covered by a thin membrane
- Defect of the lower sternum
- Deficiency of the anterior diaphragm
- Defect in the diaphragmatic pericardium, where the heart meets the diaphragm
- Various heart defects
The Fetal Health Foundation is a parent-founded non profit helping families experiencing a fetal syndrome diagnosis.