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Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology

Petra Nord1,2, Ashley H Ebanks3,4, Petra Peterson5

  • 1Department of Pediatric Surgery, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden. petra.nord@stud.ki.se.

Pediatric Surgery International
|October 1, 2024
PubMed

Insights

Congenital diaphragmatic hernia with cleft lip/palate (CDH+CL/P) is rare and linked to significant genetic abnormalities. Patients with CDH+CL/P face poorer survival rates and longer hospital stays compared to isolated CDH.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Birth Defects Research

Background:

  • Congenital diaphragmatic hernia (CDH) and cleft lip/palate (CL/P) are common birth defects.
  • Genetic factors and outcomes for patients with both CDH and CL/P (CDH+CL/P) are not well understood.

Purpose of the Study:

  • To investigate genetic aberrations associated with CDH+CL/P.
  • To determine the prevalence of CL/P in CDH patients.
  • To compare outcomes for CDH+CL/P versus isolated CDH (CDH-).

Main Methods:

  • Utilized data from the Congenital Diaphragmatic Hernia Study Group (CDHSG) registry.
  • Determined CL/P prevalence in CDH patients.
  • Explored genetic abnormalities and additional malformations in CDH+CL/P.
  • Compared patient characteristics and outcomes using statistical tests (Fisher's Exact Test, t-test, Mann-Whitney U-test).

Main Results:

  • Identified genetic anomalies in CDH+CL/P, including trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome.
  • CL/P prevalence in CDH patients was 0.7%.
  • CDH+CL/P patients exhibited lower survival rates, a higher risk of early death, reduced extracorporeal life support (ECLS) use, more non-repair cases, and longer hospital stays for survivors.

Conclusions:

  • Specific genetic anomalies are associated with the combined occurrence of CDH and orofacial clefts.
  • CL/P is infrequent in CDH patients but significantly worsens outcomes.
  • Poorer outcomes in CDH+CL/P are influenced by care decisions.
Abstract

Keywords:
CDH study groupCleft lip and palateCongenital diaphragmatic herniaGeneticsOutcomePrognosis

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