Genetic causes of congenital diaphragmatic hernia

Semin Fetal Neonatal Med. 2014 Dec;19(6):324-30. doi: 10.1016/j.siny.2014.09.003. Epub 2014 Oct 28.


Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics.

Keywords: Congenital diaphragmatic hernia; Copy number variants; Gene; Genomics; Syndromes.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Chromosome Aberrations*
  • DNA Copy Number Variations*
  • Hernias, Diaphragmatic, Congenital / genetics*
  • Humans
  • Mutation*