Clinical effect of expanded non-invasive prenatal testing for serological screening of fetuses with high-risk for Down's syndrome.
10.3760/cma.j.cn511374-20200502-00321
- VernacularTitle:扩展性无创产前检测在血清学筛查唐氏综合征高风险的临床效果分析
- Author:
Peng DAI
1
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Down Syndrome/genetics*;
Female;
Fetus;
Humans;
Pregnancy;
Prenatal Diagnosis;
Retrospective Studies;
Trisomy
- From:
Chinese Journal of Medical Genetics
2021;38(10):1012-1016
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for serological screening of fetuses with high-risk for Down's syndrome.
METHODS:To retrospectively study the screening results, prenatal diagnosis and pregnancy outcomes of 1561 midterm pregnant women underwent NIPT-plus in our center from September 2018 to December 2019 due to serological screening with high-risk for Down's syndrome(≥ 1/270).
RESULTS:45 pregnant women had a high-risk with a detection rate of 2.88% (45/1561) of 1561 pregnant women who performed NIPT-plus. 40 pregnant women underwent invasive prenatal diagnosis and 20 cases were confirmed with a positive predictive value of 50.0% (20/40). Statistical analysis showed that NIPT-plus has a high detection rate for trisomy 21, sex chromosomal aneuploidy, and MMS in the 0.1/90 group, but with a positive predictive value lower than the other two groups.
CONCLUSION:The detection rate and PPVs of NIPT-plus in different groups of Down's high-risk pregnant women was different. NIPT-plus can reduce the pressure of prenatal diagnosis and can be used as a screening method for Down's syndrome with high risk in pregnant women.
