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1999 - 2020年德克萨斯州唐氏综合征(21三体综合征)患病率按母亲种族/民族和母亲年龄组划分的趋势

Trends in the Prevalence of Down Syndrome (Trisomy 21) in Texas by Maternal Race/Ethnicity and Maternal Age Groups, 1999-2020.

作者信息

Shumate Charles, Allred Rachel, Dixon Ashley, Betancourt Dayana, Yantz Caitlyn, Howell Rebecca, Gandhi Henal, Kilburn Madeline, Lupo Philip J, Agopian A J

机构信息

Texas Department of State Health Services (DSHS), Birth Defects Epidemiology and Surveillance Branch, Austin, Texas, USA.

Division of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

出版信息

Am J Med Genet A. 2025 Sep;197(9):e64109. doi: 10.1002/ajmg.a.64109. Epub 2025 May 4.

Abstract

Down syndrome (DS) is a common chromosomal aneuploidy characterized by intellectual disability. Older maternal age is the strongest known risk factor for DS. The purpose of this study was to describe DS prevalence among major racial/ethnic groups stratified by maternal age, and to assess trends in prevalence over time in Texas. Cases with DS diagnoses delivered between 1999 and 2020 were identified from the Texas Birth Defects Registry (TBDR). Birth prevalence and crude prevalence ratios (PRs) by maternal race/ethnicity, maternal education, residence along the Texas-Mexico border, and Texas public health region (PHR) were calculated. Trends over time were assessed using Joinpoint. DS prevalence was significantly lower among mothers < 35 years compared to those 35+ years. Hispanic mothers, mothers with less than high school education, and mothers residing along the Texas-Mexico border had consistently higher PRs. Joinpoint analyses revealed significant increases in DS prevalence over time among non-Hispanic Black and Hispanic mothers. These findings identified significant increases in DS prevalence among non-Hispanic Black and Hispanic mothers compared to non-Hispanic White mothers, suggesting a potential widening of racial/ethnic differences in DS occurrence. Further research is needed to explore underlying drivers of these trends and to address differences in DS prevalence.

摘要

唐氏综合征(DS)是一种常见的染色体非整倍体疾病,其特征为智力残疾。母亲年龄较大是已知的最强唐氏综合征风险因素。本研究的目的是描述按母亲年龄分层的主要种族/族裔群体中的唐氏综合征患病率,并评估德克萨斯州患病率随时间的变化趋势。从德克萨斯州出生缺陷登记处(TBDR)中识别出1999年至2020年间分娩的唐氏综合征诊断病例。计算了按母亲种族/族裔、母亲教育程度、德克萨斯 - 墨西哥边境沿线居住情况以及德克萨斯州公共卫生区域(PHR)划分的出生患病率和粗患病率比(PRs)。使用Joinpoint评估随时间的变化趋势。与35岁及以上的母亲相比,35岁以下的母亲唐氏综合征患病率显著更低。西班牙裔母亲、高中以下学历的母亲以及居住在德克萨斯 - 墨西哥边境沿线的母亲的PRs一直较高。Joinpoint分析显示,非西班牙裔黑人和西班牙裔母亲的唐氏综合征患病率随时间显著增加。这些发现表明,与非西班牙裔白人母亲相比,非西班牙裔黑人和西班牙裔母亲的唐氏综合征患病率显著增加,这表明唐氏综合征发生的种族/族裔差异可能在扩大。需要进一步研究以探索这些趋势的潜在驱动因素并解决唐氏综合征患病率的差异。

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