Acta Paediatr
. 2025 Aug 13.
doi: 10.1111/apa.70251. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/40801361/
Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases
Ulrik Lausten-Thomsen 1 2, Paula L Hedley 2 3, Kristin M Conway 3, Katrine M Løfberg 4, Lars S Johansen 4, Paul A Romitti 2 3, Michael Christiansen 2 3 5
Affiliations Expand
- PMID: 40801361
- DOI: 10.1111/apa.70251
Abstract
Aim: Congenital diaphragmatic hernia (CDH) is a severe malformation with high morbidity and mortality. This Danish study evaluated the birth prevalence, co-occurring malformations, and temporal trends of CDH over nearly three decades.
Methods: Nationwide data from the Danish Biobank Register were used to identify liveborn infants diagnosed with CDH from 1994 to 2021. They were classified as non-syndromic or syndromic, based on co-occurring structural malformations or genetic or syndromic anomalies. Poisson regression was used to estimate the prevalence, including annual percentage changes.
Results: We found that 272 of the 1 696 357 liveborn infants were diagnosed with CDH, with a stable prevalence of 1.60 per 10 000 live births (95% confidence interval 1.42-1.81). The majority (89.3%) had non-syndromic phenotypes: 79.4% of these had isolated CDH and 20.6% had CDH with co-occurring malformations, predominantly cardiac malformations. Syndromic CDH was observed in 29 (10.7%) infants, and its prevalence declined significantly over the study period (p < 0.03).
Conclusion: Although the prevalence of liveborn Danish CDH births remained stable, there was a shift towards fewer syndromic cases, possibly due to improved prenatal screening and increased terminations. The high proportion of major, co-occurring malformations emphasises the need for continued monitoring to address the healthcare needs of these patients.
Keywords: congenital abnormalities; diaphragmatic; epidemiological monitoring; hernias; neonatal surgery.
© 2025 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.
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