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

Authors

Bailey A Martin-Giacalone
Angela E Lin
Sonja A Rasmussen
Russell S Kirby
Eirini Nestoridi
Rebecca F Liberman
A J Agopian
John C Carey
Janet D Cragan
Nina Forestieri
Vinita Leedom
Aubree Boyce
Wendy N Nembhard
Monika Piccardi
Theresa Sandidge
Xiaoyi Shan
Charles J Shumate
Erin B Stallings
Roger Stevenson
Philip J Lupo

Publication Date

5-1-2023

Journal

American Journal of Medical Genetics Part A

DOI

10.1002/ajmg.a.63181

PMID

36919524

PMCID

PMC10405780

PubMedCentral® Posted Date

8-7-2023

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes

Keywords

Infant, Female, Pregnancy, Humans, United States, Turner Syndrome, Prevalence, Aortic Coarctation, Ethnicity, Racial Groups

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.