Faculty, Staff and Student Publications
Publication Date
10-1-2024
Journal
Pediatric Surgery International
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
Humans, Cleft Palate, Cleft Lip, Hernias, Diaphragmatic, Congenital, Female, Male, Infant, Newborn, Prevalence, Registries, Retrospective Studies, Survival Rate, Congenital diaphragmatic hernia, Cleft lip and palate, CDH study group, Genetics, Prognosis, Outcome
DOI
10.1007/s00383-024-05843-5
PMID
39352580
PMCID
PMC11445286
PubMedCentral® Posted Date
10-1-2024
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes