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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Vydáno v:BMC Med Genomics
Hlavní autoři: Ge, Yunsheng, Li, Jia, Zhuang, Jianlong, Zhang, Jian, Huang, Yanru, Tan, Meihua, Li, Wei, Chen, Jiayan, Zhou, Yulin
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
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Research Article
On-line přístup: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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