Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network

Bailey A Martin-Giacalone^{1

2}, Angela E Lin³, Sonja A Rasmussen^{4

5

6}, Russell S Kirby⁷, Eirini Nestoridi⁸, Rebecca F Liberman⁸, A J Agopian⁹, John C Carey¹⁰, Janet D Cragan¹¹, Nina Forestieri¹², Vinita Leedom⁶, Aubree Boyce¹³, Wendy N Nembhard¹⁴, Monika Piccardi¹⁵, Theresa Sandidge¹⁶, Xiaoyi Shan¹⁷, Charles J Shumate¹⁸, Erin B Stallings¹¹, Roger Stevenson¹⁹, Philip J Lupo²

Affiliations

¹ Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
² Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
³ Medical Genetics Unit, Mass General for Children, Boston, Massachusetts, USA.
⁴ Department of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁵ Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
⁶ Division of Population Health Surveillance, South Carolina Department of Health and Environmental Control, Columbia, South Carolina, USA.
⁷ Chiles Center, University of South Florida College of Public Health, Tampa, Florida, USA.
⁸ Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, Boston, Massachusetts, USA.
⁹ Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
¹⁰ Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
¹¹ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
¹² Division of Public Health, North Carolina Department of Health and Human Services, Raleigh, North Carolina, USA.
¹³ Utah Birth Defect Network, Utah Department of Health and Human Services, Salt Lake City, Utah, USA.
¹⁴ Department of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
¹⁵ Office of Genetics and People with Special Health Care Needs, Maryland Department of Health, Baltimore, Maryland, USA.
¹⁶ Division of Epidemiologic Studies, Illinois Department of Public Health, Springfield, Illinois, USA.
¹⁷ Arkansas Reproductive Health Monitoring System, Arkansas Children's Research Institute, Little Rock, Arkansas, USA.
¹⁸ Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
¹⁹ Greenwood Genetic Center, Greenwood, South Carolina, USA.

PMID: 36919524
PMCID: PMC10405780
DOI: 10.1002/ajmg.a.63181

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network

Bailey A Martin-Giacalone et al. Am J Med Genet A. 2023 May.

. 2023 May;191(5):1339-1349.

doi: 10.1002/ajmg.a.63181. Epub 2023 Mar 15.

Authors

Affiliations

¹ Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
² Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
³ Medical Genetics Unit, Mass General for Children, Boston, Massachusetts, USA.
⁴ Department of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁵ Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
⁶ Division of Population Health Surveillance, South Carolina Department of Health and Environmental Control, Columbia, South Carolina, USA.
⁷ Chiles Center, University of South Florida College of Public Health, Tampa, Florida, USA.
⁸ Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, Boston, Massachusetts, USA.
⁹ Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
¹⁰ Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
¹¹ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
¹² Division of Public Health, North Carolina Department of Health and Human Services, Raleigh, North Carolina, USA.
¹³ Utah Birth Defect Network, Utah Department of Health and Human Services, Salt Lake City, Utah, USA.
¹⁴ Department of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
¹⁵ Office of Genetics and People with Special Health Care Needs, Maryland Department of Health, Baltimore, Maryland, USA.
¹⁶ Division of Epidemiologic Studies, Illinois Department of Public Health, Springfield, Illinois, USA.
¹⁷ Arkansas Reproductive Health Monitoring System, Arkansas Children's Research Institute, Little Rock, Arkansas, USA.
¹⁸ Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
¹⁹ Greenwood Genetic Center, Greenwood, South Carolina, USA.

PMID: 36919524
PMCID: PMC10405780
DOI: 10.1002/ajmg.a.63181

Abstract

The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed 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 = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). 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-year survival probability of 94.6%. The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.

Keywords: Turner syndrome; birth defects; epidemiology; prevalence; sex chromosome abnormality.

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Conflict of interest statement

CONFLICT OF INTEREST STATEMENT

The authors have no relevant conflicts of interest.

References

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Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network

Affiliations

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Research Materials