Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics

• DOI: 10.1186/s12920-025-02139-y
• Publication Date: 2025-04-29T16:00:32Z
• Authors: Yan Huang; Shuai Fu; Di Shao; Yanhua Yao; Fangyan Wu; Minrong Yao
• Keywords: Human genetics; Chromosomal Abnormality; Abnormality

This study aimed to evaluate the efficacy of copy number variation sequencing (CNV-Seq) in detecting chromosomal abnormalities prenatal diagnosis, comparing its performance with traditional karyotype analysis. A retrospective analysis was conducted on 1001 samples collected between April 2021 and December 2023. Samples were analyzed using both CNV-Seq The detection rates compared two methods across various diagnostic indications. Clinical follow-up performed assess pregnancy outcomes. detected 89 1,001 cases (8.9%), 50 (5.0%) identified by karyotyping. not only all karyotyping, including common aneuploidies such as trisomy 21 sex chromosome abnormalities, but also uncovered 53 additional pathogenic submicroscopic CNVs associated 33 known syndromes. significantly higher high-risk groups, those non-invasive testing (HR-NIPT) maternal serum screening (HR-MSS), demonstrating superior sensitivity accuracy diagnostics. demonstrated particularly alterations, highlights potential a valuable tool diagnostics, offering improved genetic guiding clinical decision-making. However, combined approach is recommended for comprehensive screening.