Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA

Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations. Materials and methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of ma...

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Detalhes bibliográficos

Principais autores:	Honglei Duan, Wanjun Wang, Ying Zhang, Xuemei Chen, Zihan Jiang, Jie Li
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2024-07-01
coleção:	Taiwanese Journal of Obstetrics & Gynecology
Assuntos:	Noninvasive prenatal testing Copy number variations Lymphocyte DNA Cell-free DNA
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S1028455924001311
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