The application of next generation sequencing on non-invasive prenatal testing: today and tomorrow
10.3760/cma.j.issn.1009-9158.2017.07.003
- VernacularTitle:下一代测序技术应用于无创产前检测的现状与未来
- Author:
Xianda WEI
;
Weigang LYU
;
Lingqian WU
- Keywords:
High-throughput nucleotide sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Laboratory Medicine
2017;40(7):489-491
- CountryChina
- Language:Chinese
-
Abstract:
Next-generation sequencing has boosted the development and application of non-invasive prenatal testing.Non-invasive prenatal screening of fetal aneuploidies (T21/T18/T13) has been widely applied around the world as the well-recognized best screening method because of its high sensitivity, low false-positive rate and false-negative rate.Non-invasive prenatal testing of fetal sex chromosome aneuploidies, common chromosome deletion-duplication syndromes and several monogenic disorders has also become technically feasible.It can be expected that primary challenges in the future would be the issues of clinical services and proper managements.
