{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:10:40Z","timestamp":1790784640574,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,12,21]],"date-time":"2020-12-21T00:00:00Z","timestamp":1608508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01CA24986701"],"award-info":[{"award-number":["R01CA24986701"]}],"id":[{"id":"10.13039\/100000002","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":[[2021,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Down syndrome is the most common chromosomal disorder at birth and is often accompanied by structural birth defects. Current data on major structural defects in this population are limited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>States and territorial population\u2010based surveillance programs submitted data on identified cases of Down syndrome and identified structural birth defects during 2013\u20132017. We estimated prevalence by program type and maternal and infant characteristics. Among programs with active case ascertainment, we estimated the prevalence of birth defects by organ system and for specific defects by maternal age (&lt;35, \u226535) and infant sex.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 13,376 cases of Down syndrome. Prevalence among all programs was 12.7 per 10,000 live births. Among these children, 75% had at least one reported co\u2010occurring birth defect diagnosis code. Among 6,210 cases identified by active programs, 66% had a cardiovascular defect with septal defects being the most common: atrial (32.5%), ventricular (20.6%), and atrioventricular (17.4%). Defect prevalence differed by infant sex more frequently than by maternal age. For example, atrioventricular septal defects were more common in female children (20.1% vs. 15.1%) while limb deficiencies were more prevalent in male children (0.4% vs. 0.1%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study provides updated prevalence estimates for structural defects, including rare defects, among children with Down syndrome using one of the largest and most recent cohorts to date. These data may aid clinical care and surveillance.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1854","type":"journal-article","created":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T16:09:23Z","timestamp":1608653363000},"page":"189-202","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Prevalence of structural birth defects among infants with Down syndrome, 2013\u20132017: A US population\u2010based study"],"prefix":"10.1002","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9217-3723","authenticated-orcid":false,"given":"Dominique","family":"Heinke","sequence":"first","affiliation":[{"name":"Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Isenburg","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0461-1410","authenticated-orcid":false,"given":"Erin B.","family":"Stallings","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyiesha D.","family":"Short","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention  Atlanta Georgia USA"},{"name":"Oak Ridge Institute for Science and Education  Oak Ridge Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3947-8936","authenticated-orcid":false,"given":"Mimi","family":"Le","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4702-1007","authenticated-orcid":false,"given":"Sarah","family":"Fisher","sequence":"additional","affiliation":[{"name":"Congenital Malformations Registry New York State Department of Health  Albany New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyi","family":"Shan","sequence":"additional","affiliation":[{"name":"Arkansas Reproductive Health Monitoring System Arkansas Children's Research Institute  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3489-401X","authenticated-orcid":false,"given":"Russell S.","family":"Kirby","sequence":"additional","affiliation":[{"name":"College of Public Health University of South Florida  Tampa Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoang H.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eirini","family":"Nestoridi","sequence":"additional","affiliation":[{"name":"Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-4049","authenticated-orcid":false,"given":"Wendy N.","family":"Nembhard","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Fay W. Boozman College of Public Health University of Arkansas for Medical Sciences and Arkansas Center for Birth Defects Research and Prevention  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5393-9984","authenticated-orcid":false,"given":"Paul A.","family":"Romitti","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, College of Public Health University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0077-6023","authenticated-orcid":false,"given":"Jason L.","family":"Salemi","sequence":"additional","affiliation":[{"name":"College of Public Health University of South Florida  Tampa Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0978-5863","authenticated-orcid":false,"given":"Philip J.","family":"Lupo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Hematology\u2010Oncology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the National Birth Defects Prevention Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33000"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0603-8"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0123"},{"key":"e_1_2_8_5_1","unstructured":"Birth Defects Surveillance Guidelines \u2010 National Birth Defects Prevention Network. 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