Advances in non-invasive prenatal gene detection technologies
10.3760/j.issn.1009-9158.2019.06.016
- VernacularTitle:无创产前基因检测技术的研究进展
- Author:
Xinping CHEN
1
;
Juan ZHU
;
Junjie HU
;
Shengmiao FU
Author Information
1. 海南省人民医院医学检验中心海南省细胞与分子遗传转化医学重点实验室
- Keywords:
Genetic testing;
Prenatal diagnosis;
Chromosome aberrations;
Genetic diseases;
inborn
- From:
Chinese Journal of Laboratory Medicine
2019;42(6):484-488
- CountryChina
- Language:Chinese
-
Abstract:
Non-invasive prenatal testing is a novel detection method which uses sequencing of maternal plasma cell-free DNA in order to screen genetic disease for pregnant women. Compared to traditional prenatal pregnancy tests and disease diagnosis techniques, this technology is non-invasive, convenient, accurate and so on. Since the discovery of cell-free DNA in the peripheral maternal plasma in 1997, non-invasive prenatal genetic testing has been widely used in clinical pregnancy tests and related medical research with the development of high-throughput gene sequencing,it has meaningful achievements in the detection of fetal aneuploidy and enormous challenges in the detection of complex genetic diseases . This article reviews the development of non-invasive prenatal genetic testing technology.
