Problems with clinical application of non-invasive prenatal testing.
10.3760/cma.j.issn.1003-9406.2020.06.001
- Author:
Jianjiang ZHU
1
;
Wei LI
;
Hui HUANG
;
Hong QI
Author Information
1. Women and Children's Health Care Hospital of Haidian District, Beijing 100080, China. qihong_2009@sina.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(6):599-602
- CountryChina
- Language:Chinese
-
Abstract:
With the development of high-throughput sequencing technology, non-invasive prenatal testing (NIPT) has been rapidly used for fetal chromosomal aneuploidy screening and gradually become a first-line test. With the increase of sequencing depth and improvement of bioinformatic analysis ability, NIPT technology may also be used to detect chromosomal copy number variations and certain single gene diseases in fetuses. However, it has also encountered some problems such as insufficient understanding by different groups, false-positive and false-negative results, and selection of appropriate subjects and gestational age. This article has given a summary for such problems.
