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.
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