Application of next-generation sequencing technology in prenatal screening and diagnosis
10.3760/cma.j.cn112150-20210429-00426
- VernacularTitle:高通量测序技术在产前筛查和产前诊断中的应用
- Author:
Yingdi LIU
1
;
Lingqian WU
Author Information
1. 中南大学医学遗传学研究中心，长沙410078
- Keywords:
Next-generation sequencing;
Prenatal screening;
Prenatal diagnosis
- From:
Chinese Journal of Preventive Medicine
2021;55(9):1037-1042
- CountryChina
- Language:Chinese
-
Abstract:
Developed rapidly for more than ten years, next-generation sequencing (NGS) has derived a series of new technologies which are widely used clinically, such as noninvasive prenatal testing(NIPT), noninvasive prenatal testing-plus(NIPT Plus), copy number variation sequencing(CNV-seq), and exome sequencing(ES), and plays an important role in birth defects prevention. Moreover, with in-deep development, the superiority of NGS is gradually recognized by clinicians, but there are still many challenges in practical application process. This study specifically elaborates on the development status, technological breakthroughs and future prospects of NGS in the field of prenatal screening and prenatal diagnosis at home and abroad.
