Children's Hospital Colorado

Pentalogy of Cantrell

What is pentalogy of Cantrell?

Pentalogy of Cantrell is an unusual form of abdominal wall defect that consists of five (penta in ancient Greek) associated anomalies. Because this condition can drastically affect development, the Colorado Fetal Care Center is here to offer families support from our highly experienced team. With many years treating pentalogy of Cantrell and thanks to our state-of-the-art center, we provide some of the best outcomes for babies diagnosed with this condition.

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. If there is a particular defect in the abdominal wall called an omphalocele, then your doctor or the team at the Colorado Fetal Care Center likely will recommend genetic studies to help determine the cause of this condition.

What causes pentalogy of Cantrell?

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.

How is pentalogy of Cantrell diagnosed?

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.

How will my pregnancy be managed after a pentalogy of Cantrell diagnosis?

Once diagnosed, genetic testing may be offered to help determine the cause of pentalogy of Cantrell, though most cases are thought to occur randomly. After a decision has been reached to continue the pregnancy, it is recommended that a high-risk pregnancy specialist, known as a maternal-fetal medicine (MFM) physician, manage the pregnancy along with other members of the fetal care team.

Sometimes, babies with pentalogy of Cantrell don't grow enough inside the uterus. If the growth environment is very poor, an early delivery (possibly several weeks early) may be recommended. Also, there is a risk of preterm labor and delivery, which is why our team will want to monitor you closely throughout the remainder of your pregnancy.

Scheduling your delivery at the Colorado Fetal Care Center also ensures access to our pediatric cardiologists, congenital heart surgeons and pediatric surgeons who can provide immediate postnatal care. The type of delivery is not affected by the diagnosis of pentalogy of Cantrell, which means you can deliver vaginally if there are no other obstetrical concerns.

How is pentalogy of Cantrell treated?

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 at our state-of-the-art facility.

What is the prognosis for babies with pentalogy of Cantrell?

The outcome for infants born with this condition depends on the severity of their defects. Babies with smaller portions of their internal organs exposed and less severe cardiac defects have a 35% survival rate.

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