Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

BACKGROUND: Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded nonin...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Ge, Yunsheng, Li, Jia, Zhuang, Jianlong, Zhang, Jian, Huang, Yanru, Tan, Meihua, Li, Wei, Chen, Jiayan, Zhou, Yulin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8045328/
https://ncbi.nlm.nih.gov/pubmed/33853619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00955-6
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