Impact of anomaly burden on outcomes in non-isolated congenital diaphragmatic hernia: analysis from the CDHSG registry
Petra Nord, Ashley H Ebanks, Matthew T Harting, Carmen Mesas BurgosAbstract
Introduction
Non-isolated congenital diaphragmatic hernia (CDH+) constitutes a complex clinical challenge. With advancing prenatal imaging, an understanding is needed of how the burden of multiple anomalies affects postnatal outcomes for CDH patients. The aim of this retrospective, international study was to analyze CDH+ and postnatal outcomes, in relation to number, and main type, of associated malformations.
Methods
All infants entered in the central registry of the CDHSG between January 1996 through August 2023 were grouped into isolated CDH or CDH+. CDH+ patients were further stratified, by number of associated anomalies (1, 2, or ≥3) and by main type of associated malformation (cardiac, chromosomal, or other). Outcomes analyzed included survival to discharge, surgical repair rates, and ECMO utilization.
Results
Of 13 471 patients, 4303 (32%) had at least one concurrent malformation. A strong, dose-dependent relationship was observed between death before discharge and an increasing number of additional malformations. Similarly, an inverse relationship was seen between the odds of undergoing surgical repair and an increasing anomaly burden. ECMO utilization followed a comparable pattern. The significantly higher mortality persisted when analyzing only the patients who had undergone surgical intervention.
Discussion
There is a clear correlation between a progressively increasing number of malformations and adverse outcomes in CDH+ patients, including increased mortality and reduced rates of surgical intervention. This quantitative anomaly burden constitutes a prognostic indicator and highlights the importance of comprehensive prenatal anomaly assessment, accounting for the cumulative impact of multiple anomalies rather than focusing solely on anomaly type, to optimize family counseling and individualize treatment strategies.