Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology
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In brief
In brief
This registry study examines rare co-occurrence of congenital diaphragmatic hernia and cleft lip/palate (0.7% prevalence), identifying associated genetic abnormalities including trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome. Patients with both conditions had significantly worse outcomes than isolated CDH, with fourfold higher early mortality and lower surgical repair rates.
- CDH with cleft lip/palate is rare (0.7% prevalence) and associated with specific genetic anomalies including trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome.
- Patients with combined CDH+CL/P have significantly lower survival rates and nearly fourfold higher risk of death within 7 days compared to isolated CDH.
- CDH+CL/P patients receive less ECLS support and have higher non-repair rates, likely influenced by goals of care discussions given poor prognosis.
- Survivors with CDH+CL/P experience longer hospital stays, reflecting increased complexity of care for this dual-anomaly population.
- Genetic testing should be prioritized in CDH patients presenting with orofacial clefts to identify underlying chromosomal abnormalities and guide counseling.
Written by the GCMD Library team from the article.
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.