Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: a report from the national birth defects prevention network
Open accessAbstract
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.
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In the absence of HLH, the 5-year survival of infants born with TS is ∼95%.
“In the absence of HLH, the 5-year survival of infants born with TS is ∼95%.632,636”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [636]
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Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
- Authors
- Martin‐Giacalone, B. A., Lin, A. E., Rasmussen, S. A., Kirby, R. S., Nestoridi, E., Liberman, R. F., Agopian, A. J., Carey, J. C., Cragan, J. D., Forestieri, N., Leedom, V., Boyce, A., Nembhard, W. N., Piccardi, M., Sandidge, T., Shan, X., Shumate, C. J., Stallings, E. B., Stevenson, R., & Lupo, P. J.
- Affiliations
- Baylor College of Medicine (US)
- Massachusetts General Hospital (US)
- South Carolina Department of Health and Environmental Control (US)
- University of South Florida (US)
- Massachusetts Department of Public Health (US)
- The University of Texas Health Science Center at Houston (US)
- University of Utah (US)
- Centers for Disease Control and Prevention (US)
- NC Department of Health and Human Services (US)
- Utah Department of Health and Human Services (US)
- University of Arkansas for Medical Sciences (US)
- Maryland Department of Health (US)
- Illinois Department of Public Health (US)
- Arkansas Children's Research Institute (US)
- Texas Department of State Health Services (US)
- Greenwood Genetic Center (US)
- Corresponding author
- Lupo, Philip J.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2023-03-15
- Volume
- 191
- Issue
- 5
- Pages
- 1339-1349
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC10405780
- OpenAlex
- W4324304724
- Cited by
- 28
- References
- 35
- Citations by year
- 2026: 3 · 2025: 16 · 2024: 6 · 2023: 3
- FWCI
- 4.65
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Commons-TMC (Texas Medical Center) (submittedVersion)
- Funders
- Alvin J. Siteman Cancer Center
- National Cancer Institute
- National Institute of General Medical Sciences
- National Institutes of Health
- U.S. Department of Defense (W81XWH‐20‐1‐0567)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- Turner syndrome, prevalence, sex chromosome abnormalities, birth defects surveillance, coarctation of the aorta, hypoplastic left heart syndrome, stillbirth, racial and ethnic disparities, survival probability, prenatal counseling
- MeSH terms
- Aortic Coarctation, Ethnicity, Female, Humans, Infant, Pregnancy, Turner Syndrome, United States, Prevalence, Racial Groups
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