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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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Detalles Bibliográficos
Autores principales: Ge, Yunsheng, Li, Jia, Zhuang, Jianlong, Zhang, Jian, Huang, Yanru, Tan, Meihua, Li, Wei, Chen, Jiayan, Zhou, Yulin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045328/
https://www.ncbi.nlm.nih.gov/pubmed/33853619
http://dx.doi.org/10.1186/s12920-021-00955-6