Diaphragmatic hernia is a congenital defect in which an opening is present in the diaphragm at birth. The diaphragm is the partition separating the chest and abdominal cavities. The abnormal opening allows some of the organs typically found in the abdomen to move into the chest cavity. In infants born with diaphragmatic hernia, the abdominal organs push up against the lungs. This prevents the lungs from developing normally.
Diaphragmatic hernia is a serious condition with many potential complications and side effects.
Diaphragmatic hernia is caused by a failure of the diaphragm to completely fuse during fetal development.
Factors that may increase the risk of diaphragmatic hernia include:
- Chromosomal syndromes
- Maternal alcohol use
- Pregestational diabetes in the mother
- Severe respiratory distress, including rapid breathing, grunting, use of accessory muscles, and bluish tint to the skin from lack of oxygen
- Asymmetrical or increased diameter of the chest wall
- Concave abdomen
Diagnosis is frequently made on prenatal ultrasound.
If not found prior to birth, your doctor will perform a physical exam. A chest x-ray may be done to confirm the presence of abdominal organs in the chest cavity.
Treatment includes the following:
Surgery to repair the defect and move the organs into the abdomen is performed after the infant has been stabilized. Surgery involves either sewing the edges of the diaphragm together, or if the hole is too large, using an artificial patch to fully close the hole. Fetal surgery may be offered at some institutions for select patients.
Aggressive respiratory support, including intubation with mechanical ventilation, is often needed. Different ventilator strategies may be used. Extracorporeal membrane oxygenation (ECMO), or cardiopulmonary bypass, may be necessary to stabilize the infant.
- Reviewer: Marcin Chwistek, MD; Brian Randall, MD
- Review Date: 05/2013 -
- Update Date: 02/03/2014 -