Performance of Prenatal Cell‐Free DNA Screening for Foetal Chromosome Aneuploidies and Microdeletion/Microduplication Syndromes: A Retrospective Study of 64,482 Consecutive Cases From a Prenatal Diagnosis Centre in China
This study emphasises the significant clinical utility of prenatal cfDNA screening in assessing the risk of foetal chromosomal abnormalities; however, its applicability remains limited for RAA screening. Comprehensive long-term phenotype follow-up is essential to elucidate the clinical significance of CNVs.
Authors
- Yuanyuan Ying (ORCID: https://orcid.org/0000-0002-2749-1474)
- Xing-Hong Di
- Feiyan Pan (ORCID: https://orcid.org/0000-0002-3990-618X)
- Xuejiao Chen (ORCID: https://orcid.org/0000-0001-9908-9006)
- Dandan He (ORCID: https://orcid.org/0000-0002-5382-4623)
- Zhongwei He (ORCID: https://orcid.org/0000-0001-8487-719X)
- Meizhen Dai
- Huihui Xu (ORCID: https://orcid.org/0009-0000-5376-9882)
Institutions
- Wenzhou Medical University (CN)
- Zhejiang Taizhou Hospital (CN)
- Taizhou University (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-10-11
- DOI
- https://doi.org/10.1002/pd.70002
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00