Prevalence of congenital heart defects in people with Down syndrome: a systematic review and meta-analysis

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.