Xu Chen-Xi, Chen Lei, Cheng Yong, Du Yang
The Second Affiliated Hospital of Xinxiang Medical University, Xinxiang, China.
Center on Translational Neuroscience, College of Life and Environmental Sciences, Minzu University of China, Beijing, China.
J Epidemiol Community Health. 2025 May 9;79(6):445-450. doi: 10.1136/jech-2023-220638.
The prevalence of congenital heart defects (CHD) in Down syndrome (DS) varies considerably across studies (from 16% to 84%). This study aimed to estimate the prevalence of CHD in people with DS (CHD-DS).
PubMed, Web of Science and the Chinese National Knowledge Infrastructure databases were searched through to 5 January 2023. English-language and Chinese-language articles reporting data on the prevalence of CHD in people with DS were included. Two independent observers performed data extraction and we used a random effects model for all statistical analyses by the Comprehensive Meta-Analysis V.3.3.070 software.
A pooled analysis, based on 102 studies that included 60 610 individuals, revealed the prevalence of CHD was 49.9% (95% CI: 46.8% to 53.0%) in people with DS. Most of the studies included in this meta-analysis were from North America, Europe and Asia, and subgroup analyses showed a slightly higher prevalence of CHD-DS in Asia (27 studies) compared with North America (28 studies) and Europe (35 studies) (Asia vs North America vs Europe; 54.2% vs 51.6% vs 46.2%).
These results demonstrated that approximately one-half of people with DS had CHD, reinforcing the need to screen all newborns suspected of Down syndrome for CHD.
唐氏综合征（DS）患者先天性心脏病（CHD）的患病率在不同研究中差异很大（从16%到84%）。本研究旨在估计唐氏综合征患者（CHD-DS）中CHD的患病率。
检索了截至2023年1月5日的PubMed、Web of Science和中国知网数据库。纳入了报告唐氏综合征患者CHD患病率数据的英文和中文文章。两名独立观察员进行数据提取，我们使用Comprehensive Meta-Analysis V.3.3.070软件对所有统计分析采用随机效应模型。
基于102项研究（包括60610名个体）的汇总分析显示，唐氏综合征患者中CHD的患病率为49.9%（95%CI：46.8%至53.0%）。该荟萃分析中的大多数研究来自北美、欧洲和亚洲，亚组分析显示，与北美（28项研究）和欧洲（35项研究）相比，亚洲（27项研究）的CHD-DS患病率略高（亚洲与北美与欧洲；54.2%对51.6%对46.2%）。
这些结果表明，约一半的唐氏综合征患者患有CHD，这进一步强调了对所有疑似唐氏综合征的新生儿进行CHD筛查的必要性。
