Research: The influence of genetics in congenital diaphragmatic hernia.

Semin Perinatol. 2019 Aug 1:151169. doi: 10.1053/j.semperi.2019.07.008. [Epub ahead of print]

The influence of genetics in congenital diaphragmatic hernia.

Yu L1Hernan RR1Wynn J1Chung WK2.

Author information

1Department of Pediatrics, Columbia University, New York, NY 10032, USA.2Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA. Electronic address:


Congenital diaphragmatic hernia (CDH) is a common birth defect that is associated with significant morbidity and mortality, especially when associated with additional congenital anomalies. Both environmental and genetic factors are thought to contribute to CDH. The genetic contributions to CDH are highly heterogeneous and incompletely defined. No one genetic cause accounts for more than 1-2% of CDH cases. In this review, we summarize the known genetic causes of CDH from chromosomal anomalies to individual genes. Both de novo and inherited variants contribute to CDH. Genes causing CDH are increasingly identified from animal models and from genomic strategies including exome and genome sequencing in humans. CDH genes are often transcription factors, genes involved in cell migration or the components of extracellular matrix. We provide clinical genetic testing strategies in the clinical evaluation that can identify a genetic cause in up to ∼30% of patients with non-isolated CDH and can be useful to refine prognosis, identify associated medical and neurodevelopmental issues to address, and inform family planning options.

Copyright © 2019 Elsevier Inc. All rights reserved.


CDH; Chromosomal anomalies; Congenital diaphragmatic hernia; GenePMID: 31443905 DOI: 10.1053/j.semperi.2019.07.008

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