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Diaphragmatic Hernia

Key points

  • Diaphragmatic hernia (di-uh-frag-MAT-ik her-nee-uh) is a birth defect where there is a hole in the diaphragm.
  • Surgery is necessary to repair a diaphragmatic hernia soon after a baby's birth.
  • Researchers estimate that about 1 in every 3,200 babies has a diaphragmatic hernia at birth in the United States.

What it is

Diaphragmatic hernia is a birth defect where there is a hole in the diaphragm. The diaphragm is the large muscle that separates the chest from the abdomen.

Organs in the abdomen, such as intestines and stomach, can move through the hole into a baby’s chest. A hernia is when an organ pushes through the hole.

A diaphragmatic hernia can prevent the baby’s lungs from developing completely. This can cause breathing difficulties for the baby at birth. About half of all newborns who have diaphragmatic hernia also have other conditions, including defects of the brain, heart, and intestines.1

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Illustration of infant showing internal organs. Infant has diaphragmatic hernia, and abdominal organs are in chest.
If organs from the abdomen move through the diaphragm, they can interfere with lung development.

Risk factors

The causes of diaphragmatic hernia in most infants are unknown. Researchers believe that changes in the baby's genes cause some instances of diaphragmatic hernia.

Diagnosis

Usually, a healthcare provider diagnoses a diaphragmatic hernia before the baby's birth. An ultrasound creates a picture of the diaphragm and lungs to look for abnormalities.

In some cases, ultrasounds during pregnancy do not show the diaphragmatic hernia. However, at birth, providers may give the diagnosis after noticing the baby has trouble breathing.

A chest x-ray can show if organs normally in the abdomen are in the chest. It can also show if the lungs look smaller than normal or are pushed to one side.

Treatment

Surgery is necessary to repair a diaphragmatic hernia soon after the baby's birth. After surgery, the baby will need continued assistance to breathe until the lungs recover and expand.

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Content Source:
National Center on Birth Defects and Developmental Disabilities
  1. Pober BR, Russell MK, Ackerman KG. Congenital Diaphragmatic Hernia Overview. 2006 Feb 1 [Updated 2010 Mar 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  • Stallings, E. B., Isenburg, J. L., Rutkowski, R. E., Kirby, R. S., Nembhard, W.N., Sandidge, T., Villavicencio, S., Nguyen, H. H., McMahon, D. M., Nestoridi, E., Pabst, L. J., for the National Birth Defects Prevention Network. National population-based estimates for major birth defects, 2016–2020. Birth Defects Research. 2024 Jan;116(1), e2301.