Pediatr Surg Int

. 2024 Oct 1;40(1):259.

 doi: 10.1007/s00383-024-05843-5. https://pubmed.ncbi.nlm.nih.gov/39352580/

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

Petra Nord ^1 2, Ashley H Ebanks ^3 4, Petra Peterson ⁵, Erik Iwarsson ^6 7, Matthew T Harting ^3 4, Carmen Mesas Burgos ^8 5; Congenital Diaphragmatic Hernia Study Group

Affiliations Expand

• PMID: 39352580
• PMCID: PMC11445286
• DOI: 10.1007/s00383-024-05843-5

Abstract

Purpose: Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P.

Methods: Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher’s Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant.

Results: Genetic anomalies in CDH+CL/P included trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome (4p16.3 deletion). CL/P prevalence in CDH was 0.7%. CDH+CL/P had lower survival rates than CDH-, a nearly fourfold risk of death within 7 days, were less supported with extracorporeal life support (ECLS), had higher non-repair rates, and survivors had longer length of hospital stay.

Conclusion: Genetic anomalies, e.g. trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome, are seen in patients with the combination of CDH and orofacial clefts. CL/P in CDH patients is rare and associated with poorer outcomes compared to CDH-, influenced by goals of care decision-making.

Keywords: CDH study group; Cleft lip and palate; Congenital diaphragmatic hernia; Genetics; Outcome; Prognosis.

© 2024. The Author(s).