ArticleAmerican journal of medical genetics. Part A2023
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.
Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review.American journal of medical genetics. Part A · 2026Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.Journal of assisted reproduction and genetics · 2026Article
- Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.American journal of medical genetics. Part A · 2026Article
- Global burden and health inequalities of sex chromosomal DSDs (1990-2021): a GBD 2021 analysis.International urology and nephrology · 2026Article
- Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms.Journal of clinical medicine · 2026Article
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Stigma in differences of sex development: a scoping review.Journal of pediatric psychology · 2025Article
- Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening.Journal of genetic counseling · 2025Article
- Early diagnosis and neonatal management of Turner syndrome with disproportionate short stature and coarctation of the aorta.BMJ case reports · 2025Article
- Prenatal Screening for Monosomy X in the First Trimester: A Comparison of a Thai Predictive Model and the Fetal Medicine Foundation Algorithm.International journal of women's health · 2025Article
- Article
- Carotid Intima-Media Thickness and Cardiometabolic Profile in Turner Syndrome: A Cross-Sectional Study.Cureus · 2024Article
- Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.American journal of medical genetics. Part A · 2024Article
- Racial and ethnic differences in infant survival for hydrocephaly-Texas, 1999-2017.Birth defects research · 2024Article
- Isochromosome Mosaic Turner Syndrome With Epilepsy and Developmental Abnormalities: A Case Report.Cureus · 2023Article
Corrections and comments
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Authors and funding
20 authors at 16 institutions in 1 country.
Funding
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.
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