A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis
LC-GS presents a robust alternative to CMA for prenatal diagnosis, effectively identifying aneuploidies, CNVs, chromosomal mosaicism, and ROH. It delivers comparable sensitivity and specificity in the detection of a wide spectrum of genomic abnormalities.
Authors
- Hongna Wang (ORCID: https://orcid.org/0000-0002-0367-3265)
- Chun Chen (ORCID: https://orcid.org/0000-0001-7736-6498)
- Shengfang Qin
- Yan Yin (ORCID: https://orcid.org/0000-0001-9134-3559)
- Yanyan He (ORCID: https://orcid.org/0000-0001-5072-5294)
- Rui Xiao (ORCID: https://orcid.org/0000-0002-5958-3197)
- Dahui Hu
- Jin Wang (ORCID: https://orcid.org/0000-0002-4924-1716)
- Xueyan Wang (ORCID: https://orcid.org/0000-0002-8764-5658)
- Gang Wang (ORCID: https://orcid.org/0000-0002-3201-6950)
- Yuxia He (ORCID: https://orcid.org/0000-0003-2864-2403)
- Kun Ma
Institutions
- Chengdu Medical College (CN)
- Chengdu Women's and Children's Central Hospital (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-07-04
- DOI
- https://doi.org/10.1002/pd.6840
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49