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
Not every case has all five factors, with the majority featuring just a few. Some babies born with the condition also have associated anomalies, like cleft lip or cleft palate.
In pentalogy of Cantrell, the heart is oriented more vertically in the chest and there usually are sometimes, but not always, defects within the heart (referred to as intracardiac anomalies). The most common defect is a hole in the wall between the two lower chambers of the heart (referred to as the ventricles) that is called a ventricular septal defect. The hands and spine are also commonly abnormal in this condition.
What causes it?
Pentalogy of Cantrell is thought to occur randomly, although African Americans and males may be more likely to develop pentalogy of Cantrell. The condition is thought to occur between 1 in every 65,000 births or as low as 1 in every 200,000 births.
In some cases, there might be a genetic component. A genetic cause means the baby’s chromosomes (considered to be the baby’s “blueprint”) are abnormal. Whatever the underlying cause, the result is that certain key steps in the first few weeks of conception did not occur normally. It is important to understand that the mother did nothing to cause this condition.
Diagnosis
Pentalogy of Cantrell is usually detected from a routine prenatal ultrasound after about 12 weeks. If not discovered during pregnancy, it’s visible as soon as the baby is born.
Treatment Options
At this time, there are no fetal interventions for pentalogy of Cantrell, which means all treatment will have to wait until your child is delivered
*diagnostic information provided courtesy of our partners at Colorado Fetal Care Center
The Fetal Health Foundation is a parent-founded non profit helping families experiencing a fetal syndrome diagnosis.