Newborn Genomic Screening Detects Chromosomal Aneuploidies

The application of next-generation sequencing (NGS) technology is increasingly used in newborn screening (NBS) to detect monogenic disorders. However, its capability to identify chromosomal aneuploidies and its potential clinical value have not been fully explored. This study investigates the feasibility of using an NGS panel for aneuploidy screening and examines the incidence of aneuploidies in newborns. We designed an NBS panel targeting 142 genes associated with 128 disorders and conducted chromosomal copy number analysis on 29,601 newborns across eight hospitals in China. The presence of chromosomal aneuploidies was confirmed through karyotyping or genome sequencing, and follow-up visits were conducted to assess prenatal screening outcomes and postnatal phenotypes. Among the 29,601 newborns, 47 were identified with various aneuploidies. Further investigation confirmed 30 of these cases, yielding a positive predictive value (PPV) of 100%. The estimated incidence of aneuploidies among live births was 0.16%, with significant regional discrepancies ranging from 0.04–0.23%. Sex chromosome aneuploidy (SCA) was the most prevalent at 0.15%, while trisomy 21 occurred at a lower rate of 0.01%. The NBS panel demonstrated potential effectiveness and accuracy in detecting chromosomal aneuploidies, suggesting it could play a valuable role in future genetic NBS clinical practice.