Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.

ABSTRACT:

Background

Expanded newborn genetic screening can identify a wide range of inherited conditions early in life. However, the prevalence and distribution of pathogenic and likely pathogenic variants in large-scale cohorts remain underexplored in the Chinese population.

Methods

We screened 33,894 newborns using targeted sequencing of 465 genes associated with monogenic disorders. Variants were classified with locally optimized American College of Medical Genetics and Genomics guidelines, focusing on pathogenic and likely pathogenic variants. We analyzed cumulative carrier rates, disease-specific prevalence, and regional differences.

Results

Here we show that among 33,894 newborns, 16,687 (49.2%) carry at least one pathogenic/likely pathogenic variant. In total, 22,457 su

SUBMITTER: Hao C 

PROVIDER: S-EPMC12618694 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature