Congenital Diaphragmatic Hernia (CDH)

Congenital Diaphragmatic Hernia (CDH) Medical Illustration

A congenital diaphragmatic hernia (CDH) is a condition that arises due to the failure of the diaphragm to properly form. This leads to other organs entering the chest cavity, which impairs development of the lungs. The resulting pulmonary hypoplasia (underdeveloped lungs) can lead to a variety of conditions, including: asthma, respiratory failure, feeding problems, developmental delays, or even death in severe cases.

Congenital diaphragmatic hernia treatment involves providing breathing support while not damaging the lungs, which in some cases may require the use of extracorporeal membrane oxygenation, or ECMO. In cases that are severe, delivery using an EXIT to ECMO strategy may be used. This EXIT to ECMO procedure was pioneered by Colorado Fetal Care Center Director Dr. Timothy Crombleholme, a nationally recognized expert and leader in treating CDH. The use of a multidisciplinary team is essential to the management of the complex patients. This approach has resulted in some of the highest congenital diaphragmatic hernisurvival rates in the country.

Learn more about the Colorado Fetal Care Center's dedicated CDH team.

Detailed Reading

Fetology textbook pic

Discussion of this condition comes from 'Fetology: Diagnosis and Management of the Fetal Patient,' by CFCC Director and fetal surgeon Dr. Timothy Crombleholme, et al. The book is widely regarded as the gold standard textbook in the field. Read more about 'Fetology.'



A congenital diaphragmatic hernia is a defect in the formation of the diaphragm that is associated with pulmonary hypoplasia. A congenital diaphragmatic hernia is thought to be due to failure of the pleuroperitoneal canal to close by 9 to 10 weeks of gestation.

  • Approximately 60% of cases are isolated and 40% are complex or syndromic.
  • Multiple sonographic and MRI techniques have been described to predict lung volume, which is an important predictor of survival. Liver position is also very important with regard to outcome.
  • In the most severe cases of congenital diaphragmatic hernia, therapeutic innovations such as fetal tracheal occlusion with a balloon which is removed prior to delivery or EXIT to ECMO may offer the best hope for survival.
  • All fetuses with a congenital diaphragmatic hernia should be delivered in a tertiary center with specific neonatal and surgical expertise in this condition and ECMO capability.
  • Cesarean section delivery is indicated only for standard obstetrical reasons or for ECMO standby.
  • Approximately a dozen single-gene disorders have a congenital diaphragmatic herni as a major feature. With increased cytogenetic resolution through array cGH, more syndromic cases are being recognized as being associated with chromosome abnormality. Fetal karyotype is indicated in all cases.
  • Incidence is around 1 in 2200 with 85% to 90% being left sided, 10% to 15% right sides and 2% bilateral.
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