{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T17:53:23Z","timestamp":1792259603211,"version":"4.4.0"},"reference-count":30,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T00:00:00Z","timestamp":1694131200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A study evaluating the real\u2010world prevalence of birth defects (BDs), including co\u2010occurrence patterns, will provide the information required to estimate Japan's true BD prevalence and monitor it. Information such as when infants are diagnosed with BDs is crucial for defining the study population and data collection period in future administrative database studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study utilized the DeSC database, a large claims database comprising multiple health insurance schemes. The prevalence of major BDs, including structural congenital malformations (CMs) and chromosomal abnormalities, was determined in infants born between 2014 and 2020 and continuously insured for \u22651\u2009year. The time of the first BD diagnosis and multiple BD patterns were also evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 43,147 infants, 3050 (7.07%) were diagnosed with major BDs, and 3002 (6.96%) with major CMs. The circulatory system (2.95%) was the most frequent organ system affected by CMs, followed by CMs and deformations of the musculoskeletal system (1.94%). The cumulative diagnostic rates of BDs and CMs at month 6 were 85.9% and 85.6%, respectively. The EUROCAT BD subgroups diagnosed in more than 1.0% of the infants were atrial septal defects (1.47%) and patent ductus arteriosus (1.07%). Among the 2997 infants with EUROCAT BDs, 241 (8.04%) were classified as having multiple BDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A large claims database is a valuable resource for evaluating and monitoring the prevalence of BDs, including multiple patterns. At least 1\u2009year since birth should be considered in future administrative database studies evaluating BDs as outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2247","type":"journal-article","created":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T05:11:26Z","timestamp":1694236286000},"page":"1723-1736","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Real\u2010world prevalence, time of diagnosis, and co\u2010occurrence patterns of birth defects in live\u2010born infants, 2014\u20132020: A health administrative database study in Japan"],"prefix":"10.1002","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0901-368X","authenticated-orcid":false,"given":"Tomofumi","family":"Ishikawa","sequence":"first","affiliation":[{"name":"Laboratory of Biomolecule and Pathophysiological Chemistry, Graduate School of Pharmaceutical Sciences Tohoku University  Sendai Miyagi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kawame","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics The Jikei University Hospital  Tokyo Japan"},{"name":"Department of Education and Training, Tohoku Medical Megabank Organization Tohoku University  Sendai Miyagi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nariyasu","family":"Mano","sequence":"additional","affiliation":[{"name":"Laboratory of Biomolecule and Pathophysiological Chemistry, Graduate School of Pharmaceutical Sciences Tohoku University  Sendai Miyagi Japan"},{"name":"Department of Pharmaceutical Sciences Tohoku University Hospital  Sendai Miyagi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taku","family":"Obara","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutical Sciences Tohoku University Hospital  Sendai Miyagi Japan"},{"name":"Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization Tohoku University  Sendai Miyagi Japan"},{"name":"Division of Molecular Epidemiology, Graduate School of Medicine Tohoku University  Sendai Miyagi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-021-01629-w"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pds.3446"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20658"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23240"},{"key":"e_1_2_9_6_1","unstructured":"Centers for Disease Control and PreventionData and statistics on birth defects. Retrieved June 9 2023 fromhttps:\/\/www.cdc.gov\/ncbddd\/birthdefects\/data.html"},{"key":"e_1_2_9_7_1","volume-title":"EUROCAT Guide 1.5","author":"EUROCAT","year":"2022"},{"key":"e_1_2_9_8_1","unstructured":"European Surveillance of Congenital Anomalies (EUROCAT). (n.d.).Prevalence charts and tables. Retrieved March 12 2023 fromhttps:\/\/eu\u2010rd\u2010platform.jrc.ec.europa.eu\/eurocat\/eurocat\u2010data\/prevalence"},{"key":"e_1_2_9_9_1","first-page":"99","article-title":"Teratogenic causes of malformations","volume":"40","author":"Gilbert\u2010Barness E.","year":"2010","journal-title":"Annals of Clinical and Laboratory Science"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000003614"},{"key":"e_1_2_9_11_1","unstructured":"Information Center for Specific Pediatric Chronic Diseases Japan. (n.d.).Status of registration in the database for children with specific pediatric chronic diseases. Retrieved March 12 2023 fromhttps:\/\/www.shouman.jp\/research\/totalization"},{"key":"e_1_2_9_12_1","unstructured":"International Clearinghouse for Birth Defects Surveillance and Research. (2014).Annual report 2014. Retrieved March 12 2023 fromhttp:\/\/www.icbdsr.org\/wp-content\/annual_report\/Report2014.pdf"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preghy.2023.01.001"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pds.5370"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1748"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pds.4749"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jad.2020.01.016"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pds.5244"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.2176\/nmc.st.2016-0135"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1070"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1589"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.2188\/jea.JE20180014"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/jog.12419"},{"key":"e_1_2_9_24_1","unstructured":"Ministry of Health Labour and Welfare. (n.d.\u2010a).An outline of the Japanese medical system. Retrieved March 12 2023 fromhttps:\/\/www.mhlw.go.jp\/english\/policy\/health-medical\/health-insurance\/index.html"},{"key":"e_1_2_9_25_1","unstructured":"Ministry of Health Labour and Welfare. (n.d.\u2010b).Handbook of health and welfare statistics 2021. Retrieved June 7 2023 fromhttps:\/\/www.mhlw.go.jp\/english\/database\/db-hh\/1-1.html"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.31662\/jmaj.2021-0189"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3233\/PGE-13052"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.5402\/2013\/452085"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2021.01145"},{"key":"e_1_2_9_30_1","unstructured":"World Health Organization. (2023 February 27).Congenital disorders. 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