Diaphragmatic hernia is a 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.

Causes

Diaphragmatic hernia is caused by a failure of the diaphragm to completely fuse during fetal development.

Diaphragmatic Hernia—Stomach and Intestines Move into Chest Cavity

Risk Factors

Factors that may increase the chances of diaphragmatic hernia:

Chromosomal syndromes
Maternal alcohol use
Pregestational diabetes in the mother

Symptoms

Symptoms include:

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

Diagnosis is frequently made on prenatal ultrasound.

If not found prior to birth, a physical exam will be done to confirm the presence of abdominal organs in the chest cavity.

Chest x-ray may also be taken.

Treatment

Treatment includes the following:

Surgery

Surgery to repair the defect and move the organs into the abdomen may be done. 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 an option, but it may not be available everywhere.

Respiratory Support

Aggressive respiratory support, including mechanical ventilation, is often needed. Different ventilator strategies may be used. Extracorporeal membrane oxygenation (ECMO), or cardiopulmonary bypass, may be necessary.

Prevention

There are no current guidelines to prevent diaphragmatic hernia.

RESOURCES:

Healthy Children—American Academy of Pediatrics
https://www.healthychildren.org

Kids Health—Nemours Foundation
http://kidshealth.org

CANADIAN RESOURCES:

About Kids Health—The Hospital for Sick Children
http://www.aboutkidshealth.ca

Health Canada
https://www.canada.ca

References:

Congenital diaphragmatic hernia. EBSCO DynaMed Plus website. Available at: http://www.dynamed... . Updated May 16, 2016. Accessed March 23, 2018.

Congenital diaphragmatic hernia (CDH). Cincinnati Children's website. Available at: https://www.cincinnatichildrens.org/health/c/diaphragmatic-hernias. Updated January 2016. Accessed March 23, 2018.

Congenital diaphragmatic hernia (CDH). UCSF Benioff Children's Hospital Fetal Treatment Center website. Available at:
...(Click grey area to select URL)
Accessed March 23, 2018.

McAteer JP, Hecht A, De Roos AJ, Goldin AB. Maternal medical and behavioral risk factors for congenital diaphragmatic hernia. J Pediatr Surg. 2014;49(1):34-38.

Last reviewed March 2018 by EBSCO Medical Review Board Marcin Chwistek, MD
Last Updated: 5/1/2014

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