Congenital Diaphragmatic Hernia

What is a congenital diaphragmatic hernia?

Congenital diaphragmatic hernia is a birth defect that occurs when the diaphragm, the thin muscle separating the chest and abdomen, does not fully form. As a result, there is an opening in the diaphragm. Organs that should be in the abdomen are pushed (herniated) into the chest cavity through this gap and may hinder growth of the lungs and keep the heart from developing normally.

What causes a congenital diaphragmatic hernia?

This condition develops as a fetus forms in the mother's uterus. Congenital diaphragmatic hernia is often associated with other birth defects, such as heart defects. Genetics may also play a role. Up to 20 percent of congenital diaphragmatic hernia cases are linked to a chromosome defect or genetic syndrome. 

What are the symptoms of a congenital diaphragmatic hernia?

  • Abnormal chest development, with one side larger than the other
  • Caved-in abdomen
  • Vomiting
  • Cyanosis (blue color of the skin due to low oxygen levels)
  • Difficulty breathing and/or fast breathing
  • Fast heart rate

How is a congenital diaphragmatic hernia diagnosed?

A prenatal ultrasound performed during pregnancy often indicates this condition in the fetus. After birth, a congenital diaphragmatic hernia is diagnosed with a chest X-ray.

What is the treatment for congenital diaphragmatic hernia?

Most babies with CDH are placed on a mechanical ventilator at birth. Some, with severe respiratory problems, need to be placed on temporary heart/lung bypass (called ECMO, or extracorporeal membrane life support). 

Once the baby is stable, surgery is performed to repair the diaphragm and to move the stomach, intestines, and other abdominal organs back into the abdominal cavity. Some infants require additional surgeries to help with any problems that might arise. At Columbia's Congenital Diaphragmatic Hernia Program, experts from a range of specialities collaborate to provide ongoing care for children with CDH.