Learn About Congenital Diaphragmatic Hernia

What is the definition of Congenital Diaphragmatic Hernia?

Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.

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What are the causes of Congenital Diaphragmatic Hernia?

Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which congenital diaphragmatic hernia may occur. Some of these syndromes are caused by changes in single genes, and others are caused by chromosomal abnormalities that affect several genes.

How prevalent is Congenital Diaphragmatic Hernia?

Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns.

Is Congenital Diaphragmatic Hernia an inherited disorder?

Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family.

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What are the latest Congenital Diaphragmatic Hernia Clinical Trials?
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Summary: The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital a...

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Fetal Endoscopic Tracheal Occlusion Trial for Congenital Diaphragmatic Hernia (CDH)

Summary: This is a single site pilot trial to assess the feasibility and safety of treating severe CDH with Fetal Endoscopic Tracheal Occlusion with the Goldballoon Detachable Balloon (GOLDBAL2) along with the Delivery Microcatheter (BALTACCI-BDPE100) at Michigan Medicine. The study will enroll pregnant women that meet study criteria. Participants will have placement of FETO between gestational age at 27 w...

Who are the sources who wrote this article ?

Published Date: December 01, 2019Published By: National Institutes of Health

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Fetal endoscopic tracheal occlusion for moderate and severe congenital diaphragmatic hernia: a systematic review and meta-analysis of randomized controlled trials.