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

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

Abstract 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 expand...

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Bibliographic Details
Main Authors: Yunsheng Ge, Jia Li, Jianlong Zhuang, Jian Zhang, Yanru Huang, Meihua Tan, Wei Li, Jiayan Chen, Yulin Zhou
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Medical Genomics
Subjects:
Expanded noninvasive prenatal test
Common trisomies
Sex chromosomal aneuploidies
Rare autosomal aneuploidies
Copy number variations
Online Access:https://doi.org/10.1186/s12920-021-00955-6

Internet

https://doi.org/10.1186/s12920-021-00955-6

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