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

Genetic causes of congenital diaphragmatic hernia.

Author information

1
Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
2
Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: wkc15@columbia.edu.

Abstract

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

PMID:
25447988
PMCID:
PMC4259843
DOI:
10.1016/j.siny.2014.09.003
[Indexed for MEDLINE]
Free PMC Article

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