Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.
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DOI：
10.1002/ajmg.a.63181
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发表时间：
2023-05
影响因子：
2
通讯作者：
Lupo, Philip J.
中科院分区：
文献类型：
--
作者：
Martin-Giacalone, Bailey A.;Lin, Angela E. E.;Rasmussen, Sonja A.;Kirby, Russell S.;Nestoridi, Eirini;Liberman, Rebecca F.;Agopian, A. J.;Carey, John C.;Cragan, Janet D.;Forestieri, Nina;Leedom, Vinita;Boyce, Aubree;Nembhard, Wendy N.;Piccardi, Monika;Sandidge, Theresa;Shan, Xiaoyi;Shumate, Charles J.;Stallings, Erin B.;Stevenson, Roger;Lupo, Philip J.
缺乏美国人口为基础的特纳综合征的数据限制了这种性染色体异常的患病率和相关特征的评估。因此，我们整理了2000-2017年国家出生缺陷预防网络内七个出生缺陷监测项目的数据。我们估计了出生后第一年内确诊的核型证实的特纳综合征的患病率。我们还计算了常见出生缺陷病例的比例，使用患病率（PR）和95%置信区间（CI）评估了与母婴特征的相关性，并估计了生存概率。任何妊娠结局的特纳综合征患病率为每10，000例活产女性3.2例（95% CI = 3.0-3.3，程序范围：1.0-10.4），活产和死产（≥20周妊娠）病例为1.9例（95% CI = 1.8-2.1，程序范围：0.2-3.9）。与非西班牙裔白色女性相比，非西班牙裔黑人女性的患病率最低（PR = 0.5，95% CI = 0.4-0.6）。主动脉缩窄是最常见的缺陷（11.6%的病例），在整个队列中，没有左心发育不良的个体的五年生存概率为94.6%。这项以人群为基础的研究结果可能会为监测实践、产前咨询和诊断提供信息。我们还确定了流行率的种族和民族差异，这一观察结果值得进一步调查。
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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影响因子：
3
作者：
Gruchy, N.;Vialard, F.;Leporrier, N.
通讯作者：
Leporrier, N.
影响因子：
2.3
作者：
Papp, Csaba;Beke, Artur;Papp, Zoltan
通讯作者：
Papp, Zoltan
影响因子：
0.3
作者：
Lara DA;Ethen MK;Canfield MA;Nembhard WN;Morris SA
通讯作者：
Morris SA
影响因子：
7.2
作者：
Marshall, Jennifer;Salemi, Jason L.;Kirby, Russell S.
通讯作者：
Kirby, Russell S.
影响因子：
5.1
作者：
Eckhauser, Aaron;South, Sarah T.;Botto, Lorenzo D.
通讯作者：
Botto, Lorenzo D.