Close mobile menu×
Close mobile menu

Congenital Diaphragmatic Hernia (Pediatric)

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 
  • 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?

  • Mechanical ventilation at birth may be needed to support breathing.
  • Babies with severe respiratory issues may be placed on a temporary heart/lung bypass machine or ECMO (extracorporeal membrane oxygenation) until they’re stable enough for surgery. 
  • Surgery entails moving the stomach, intestine, and other abdominal organs from the chest back into the abdomen, and closing the hole in the diaphragm.