(Hernia—Diaphragmatic; Congenital Hernia of the Diaphragm)
Pronounced: Die-uh-frag-mat-ic hur-nee-uh
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.
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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.
There is no known prevention for diaphragmatic hernia.
Last reviewed May 2013 by Marcin Chwistek, MD; Brian Randall, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.