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Genetic causes of congenital diaphragmatic hernia

Julia Wynn1, Lan Yu1, Wendy K Chung1

  • 1Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.

Seminars in Fetal & Neonatal Medicine
|December 3, 2014
PubMed

Insights

Congenital diaphragmatic hernia (CDH) is a serious birth defect. Research is identifying genetic causes to improve treatment and prevention strategies for affected infants.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Neonatal Care

Background:

  • Congenital diaphragmatic hernia (CDH) is a significant birth defect causing infant mortality and long-term health issues.
  • Despite medical advancements, CDH remains a critical challenge in neonatal care.
  • The etiology of CDH is complex and heterogeneous, necessitating genetic investigation.

Purpose of the Study:

  • To review the known genetic causes of congenital diaphragmatic hernia.
  • To discuss current strategies for genetic evaluation and counseling in CDH cases.
  • To highlight the role of genetic research in developing improved treatments and prevention.

Main Methods:

  • Literature review of studies on congenital diaphragmatic hernia genetics.
  • Summary of recurrent genetic abnormalities associated with CDH.
  • Discussion of diagnostic technologies and genetic counseling approaches.

Main Results:

  • Identified recurrent genetic causes including aneuploidies, copy number variants, and single gene mutations.
  • Outlined the heterogeneity in the genetic underpinnings of CDH.
  • Emphasized the evolving landscape of clinical genetic diagnostics for CDH.

Conclusions:

  • Understanding the genetic basis of CDH is crucial for advancing patient care.
  • Genetic evaluation and counseling are essential components of managing CDH.
  • Continued research into CDH genetics promises better therapeutic and preventive strategies.

Keywords:
Congenital diaphragmatic herniaCopy number variantsGeneGenomicsSyndromes

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