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Therefore, we collated 2000\u20132017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype\u2010confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI\u00a0=\u00a03.0\u20133.3, program range: 1.0\u201310.4), and 1.9 for live birth and stillbirth (\u226520\u2009weeks gestation) cases (95% CI\u00a0=\u00a01.8\u20132.1, program range: 0.2\u20133.9). Prevalence was lowest among cases born to non\u2010Hispanic Black women compared to non\u2010Hispanic White women (PR\u00a0=\u00a00.5, 95% CI\u00a0=\u00a00.4\u20130.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five\u2010year survival probability of 94.6%. The findings from this population\u2010based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.<\/jats:p>","DOI":"10.1002\/ajmg.a.63181","type":"journal-article","created":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T08:38:51Z","timestamp":1678869531000},"page":"1339-1349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000\u20132017: A report from the National Birth Defects Prevention Network"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0758-8487","authenticated-orcid":false,"given":"Bailey A.","family":"Martin\u2010Giacalone","sequence":"first","affiliation":[{"name":"Department of Surgery Washington University in St. Louis School of Medicine  St. Louis Missouri USA"},{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1145-4572","authenticated-orcid":false,"given":"Angela E.","family":"Lin","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Mass General for Children  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0574-4928","authenticated-orcid":false,"given":"Sonja A.","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine The Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Department of Pediatrics University of Florida College of Medicine  Gainesville Florida USA"},{"name":"Division of Population Health Surveillance South Carolina Department of Health and Environmental Control  Columbia South Carolina 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":"Chiles Center University of South Florida College of Public Health  Tampa Florida 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\/0000-0002-7593-4145","authenticated-orcid":false,"given":"Rebecca F.","family":"Liberman","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\/0000-0002-5874-4155","authenticated-orcid":false,"given":"A. J.","family":"Agopian","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics, and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6007-8518","authenticated-orcid":false,"given":"John C.","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Health  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet D.","family":"Cragan","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\/0000-0001-7894-0279","authenticated-orcid":false,"given":"Nina","family":"Forestieri","sequence":"additional","affiliation":[{"name":"Division of Public Health North Carolina Department of Health and Human Services  Raleigh North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinita","family":"Leedom","sequence":"additional","affiliation":[{"name":"Division of Population Health Surveillance South Carolina Department of Health and Environmental Control  Columbia South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aubree","family":"Boyce","sequence":"additional","affiliation":[{"name":"Utah Birth Defect Network Utah Department of Health and Human Services  Salt Lake City Utah 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 University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Piccardi","sequence":"additional","affiliation":[{"name":"Office of Genetics and People with Special Health Care Needs Maryland Department of Health  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Sandidge","sequence":"additional","affiliation":[{"name":"Division of Epidemiologic Studies Illinois Department of Public Health  Springfield Illinois 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"}]},{"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":[{"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":"Roger","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina 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 Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31805"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0976-2"},{"key":"e_1_2_11_4_1","volume-title":"Optimizing health care for Turner patients in the 21st century: Proceedings of the 5th international turner symposium held in Naples on 23\u201325 March 2000, (p. 336)","author":"Buckway C. 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