{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:04:08Z","timestamp":1753862648327,"version":"3.41.2"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018684","name":"National Health Commission of the People's Republic of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018684","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The landscape of co\u2010occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>This study aims to elucidate the complex patterns of co\u2010occurring defects in Chinese population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We analyzed cases from the Chinese Birth Defects Monitoring Network (2007\u20102019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis. Adjusted observed\u2010to\u2010expected prevalence (O\/E) ratios were calculated for all two\u2010 to five\u2010way combinations to discern patterns of co\u2010occurring defects with CDH more frequently than expected by chance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 1235 CDH cases associated with other birth defects, the top 30 combinations with the highest adjusted O\/E ratios included musculoskeletal, cardiovascular, central nervous system, facial, and renal defects. Cardiovascular defects were involved in 76.7% of the top combinations, followed by central nervous system (23.3%) and musculoskeletal defects (20.0%). The combination of polydactyly and syndactyly anomalies exhibited the highest adjusted O\/E ratio of 5963.37 (95% confidence interval: 5960.00\u20135966.73).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The relationship between musculoskeletal malformation and CDH may be explained from the aspects of epidemiology, embryology and pathogenesis. And mechanisms for the co\u2010occurrence of cardiovascular and CDH may involve disruption of common pathways.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our analyses describe the co\u2010occurrence patterns of birth defects in CDH infants and reveal several noteworthy patterns. The observed patterns can guide further study and enhance our comprehension understanding of the developmental mechanisms underlying multiple defects.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2432","type":"journal-article","created":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T11:44:45Z","timestamp":1736941485000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Patterns of Co\u2010Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital\u2010Based Surveillance Study"],"prefix":"10.1002","volume":"117","author":[{"given":"Zhi\u2010Yu","family":"Chen","sequence":"first","affiliation":[{"name":"National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University  Chengdu China"},{"name":"The Joint Laboratory for Pulmonary Development and Related Diseases, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Li","family":"Xu","sequence":"additional","affiliation":[{"name":"National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University  Chengdu China"},{"name":"The Joint Laboratory for Pulmonary Development and Related Diseases, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Yang","family":"Gao","sequence":"additional","affiliation":[{"name":"National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University  Chengdu China"},{"name":"The Joint Laboratory for Pulmonary Development and Related Diseases, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University  Chengdu 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Women and Children, Ministry of Education, Sichuan University  Chengdu China"},{"name":"NHC Key Laboratory of Chronobology, Sichuan University  Chengdu China"},{"name":"Med\u2010X Center for Informatics, Sichuan University  Chengdu 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