Application value of sequential non-invasive prenatal testing in pregnant women with abnormal single value of Down's screening
10.3969/j.issn.1673-4130.2024.10.007
- VernacularTitle:唐氏筛查单项值异常孕妇序贯性无创产前筛查应用价值探讨
- Author:
Hong LI
1
;
Yanhong YU
;
Xuzhuo ZHANG
;
Jingtian LU
;
Xia YE
;
Juan QIU
Author Information
1. 深圳市龙华区妇幼保健院分子与细胞遗传实验室,广东深圳 518000
- Keywords:
invasive prenatal diagnosis;
non-invasive prenatal screening;
early Down's screening;
ab-normal single values
- From:
International Journal of Laboratory Medicine
2024;45(10):1184-1187,1192
- CountryChina
- Language:Chinese
-
Abstract:
Objective To assess the application value of sequential non-invasive prenatal testing(NIPT)for pregnant women with abnormal single values of early Down's screening.Methods A total of 1 631 pregnant women with abnormal single values of traditional early Down's screening were selected from Shenzhen Long-hua Maternal and Child Health Hospital from January to October in 2022,and all of them voluntarily under-went NIPT with signed informed consent.The high-risk samples screned by NIPT wre conducted invasive prenatal diagnosis and tracked pregnancy outcomes,and yet low-risk pregnant women was followed up after the due date.Results Among all the pregnant women,a total of 10 high-risk samples of fetal chromosomal aneuploidy were detected by sequential NIPT,including 1 case of trisomy 21,1 case of trisomy 18,7 cases of sex chromosome abnormalities,and 1 case of other autosomal abnormalities.9 cases of high-risk pregnant women received invasive prenatal diagnosis,and 5 cases were consistent with NIPT results,which had yielded a positive predictive value of 55.56％.Among them,the positive predictive values of trisomy 21,trisomy 18,sex chromosome abnormalities and other autosomal abnormalities were 100.00％,100.00％,50.00％,0.00％,resepectively.Conclusion Sequential NIPT could improve the detection of defective children in pregnant women with abnormal single values of early Down's screening,which has certain guiding value for expanding screening to reduce the birth of defective children.In view of its low positive predictive value,pregnant women with abnormal single value of Down's screening should be paid more attention,and further prenatal diagnosis may be necessary to reduce the birth rate of defective children.
