Congenital diaphragmatic hernia

What causes congenital diaphragmatic hernia?

Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or with additional birth defects of unknown cause. Some cases have been linked to in utero exposures. In the majority of cases, the cause is not known.

Last updated on 05-01-20

What is the long-term outlook for fetuses or infants with congenital diaphragmatic hernia (CDH)?

The long-term outlook (prognosis) for those with congenital diaphragmatic hernia (CDH) depends on a number of factors and is hard to predict. A large defect is more likely to result in pulmonary hypoplasia (underdevelopment of the lungs) and death than a small defect. Other factors associated with decreased survival include:

  • premature birth
  • having a chromosome abnormality or single gene disorder
  • the presence of other severe birth defects such as a heart defect
  • having a right-sided defect or bilateral CDH (on both sides)
  • liver herniation
  • a lower fetal lung volume

The most serious complication after surgical repair of CDH is persistent pulmonary hypertension of the newborn (PPHN). Other complications that may occur soon after surgery include hemorrhage, chylothorax, and patch infection.

The postnatal survival rate at tertiary centers (providing specialized care) has improved, with reported rates of 70 to 92 percent. However, these data represent the survival rate of cases that were full-term infants born or transferred to tertiary care centers with available skilled personnel and access to advanced technology.

While reports of normal or near-normal long-term outcomes are increasing, many survivors have long-term complications. These may include chronic respiratory disease, recurrent hernia (abnormal opening) or patch problems, spine or chest wall abnormalities, gastrointestinal difficulties, and neurological impairment.

Last updated on 05-01-20

Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: Url:
Name: CDH UK The Denes, Lynn Road Tilney All Saints
Kings Lynn Norfolk PE34 4RT
United Kingdom
Phone: 0800 731 6991 Email: Url:
Name: Breath of Hope: Congenital Diaphragmatic Hernia (CDH) Awareness PO Box 6627
Charlottesville, VA, 22906-6627, United States
Toll Free: 888-264-2340 Email: Url:
Name: CHERUBS 3650 Rogers Road #290
Wake Forest, NC, 27587, United States
Phone: 919-610-0129 Fax : 815-425-9155 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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