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However, in some instances, cases with additional defects (e.g., spina bifida and clubfoot) may be more appropriately considered as isolated because the co\u2010occurring defect (clubfoot) is believed to be developmentally related to the defect of interest. Determining which combinations should be considered isolated can be challenging and potentially resource intensive for registries. Thus, we developed automated classification procedures for differentiating between isolated versus multiple defects, while accounting for developmentally related defects, and applied the approach to data from the Texas Birth Defects Registry (1999\u20132018 deliveries). Among 235,544 nonsyndromic cases in Texas, 89% of cases were classified as having isolated defects, with proportions ranging from 25% to 92% across 43 specific defects analyzed. A large proportion of isolated cases with spina bifida (44%), lower limb reduction defects (44%), and holoprosencephaly (32%) had developmentally related defects. Overall, our findings strongly support the need to account for isolated versus multiple defects in risk factor association analyses and to account for developmentally related defects when doing so, which has implications for interpreting prior studies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63714","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T12:30:25Z","timestamp":1716294625000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Classification of isolated versus multiple birth defects: <scp>An<\/scp> automated process for population\u2010based registries"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6406-4247","authenticated-orcid":false,"given":"Renata H.","family":"Benjamin","sequence":"first","affiliation":[{"name":"Department of Epidemiology, Human Genetics, and Environmental Sciences The University of Texas Health Science Center at Houston (UTHealth) School of Public Health  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne M.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Drummond\u2010Borg","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9025-3276","authenticated-orcid":false,"given":"Angela E.","family":"Scheuerle","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H.","family":"Langlois","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics, and Environmental Sciences UTHealth School of Public Health at Austin  Austin Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark A.","family":"Canfield","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics, and Environmental Sciences UTHealth School of Public Health at Austin  Austin Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles J.","family":"Shumate","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1151-5096","authenticated-orcid":false,"given":"Laura E.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics, and Environmental Sciences The University of Texas Health Science Center at Houston (UTHealth) School of Public Health  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5874-4155","authenticated-orcid":false,"given":"A. J.","family":"Agopian","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics, and Environmental Sciences The University of Texas Health Science Center at Houston (UTHealth) School of Public Health  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2014.09.017"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63014"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23240"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.7"},{"key":"e_1_2_9_6_1","unstructured":"EUROCAT. (2022).EUROCAT Guide 1.5. 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