Analysis of the effect of expanded non-invasive prenatal testing in prenatal screening population during pregnancy.
10.3760/cma.j.cn511374-20200702-00489
- VernacularTitle:扩展性无创产前检测应用于孕期产前筛查的临床效果分析
- Author:
Peng DAI
1
;
Ganye ZHAO
;
Wanying GUO
;
Shanshan GAO
;
Xiangdong KONG
Author Information
1. Center of Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Chromosome Aberrations;
Female;
Humans;
Pregnancy;
Pregnancy Outcome;
Prenatal Diagnosis;
Sex Chromosome Aberrations
- From:
Chinese Journal of Medical Genetics
2021;38(11):1041-1044
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for prenatal screening.
METHODS:The screening result, prenatal diagnosis and pregnancy outcome of 3700 pregnant women who volunteered NIPT-plus screening at our center from September 2018 to December 2019 were reviewed.
RESULTS:Among the 3700 pregnant women, 74(2.0%) were scored positive for clinically significant fetal chromosomal abnormalities and underwent NIPT-plus screening. Sixty three women with a high risk underwent invasive prenatal diagnosis, among whom 19 were diagnosed, which yielded a positive predictive value (PPVs) of 30.2% (19/63). Statistical analysis showed that NIPT-plus has higher PPVs for common aneuploidies and low-to-medium PPVs for sex chromosome aneuploidies and microdeletion/microduplication syndromes.
CONCLUSION:As a screening technique, NIPT-plus has broader applications compared with conventional techniques, and has reference value for clinicians and pregnant women during pregnancy.
