国际妇产科学杂志2017，Vol.44Issue(3)：343-346,4.
孕中期联合血清学和NIPT进行唐氏综合征筛查的回顾性分析
A Retrospective Analysis of Down Syndrome Serological Screening Combined with NIPT in Pregnant Metaphase
姚静怡 1崔岚 1岳胜 1董玲 1邱中娟 1辛力1
作者信息
- 1. 300070天津市妇女儿童保健中心筛查中心
- 折叠
摘要
Abstract
Objective:To discuss the clinical application value of the prenatal screening for Down syndrome ( DS ) in Tianjin district, which combines the second trimester serum screening (STSS) and the noninvasive prenatal testing (NIPT). Methods:A total of 10429 cases underwent STSS and NIPT in the second trimester were retrospectively analyzed. The pregnant outcome was recorded. Patients with an increased risk of DS in the second trimester screening (≥1:270) were offered genetic amniocentesis. The detailed information of NIPT was then provided for their independent choice. We proposed that those low-risk pregnant women (STSS, ranged from 1/1000 to 1/270, including 1/1000), and those elder women (the age on the expected date of childbirth, over or equal to 35 years) with the low-risk value of STSS (less than 1/1000), had NIPT test. The NIPT result in those women with combination screening was the end one, while the second STSS result in those women with only STSSs was defined as the end result. Results:The detection rate of STSS is 73.33%(11/15), the false positive rate 5.75%(600/10429), and the positive predictive value 1.80% (11/611). The detection rate of NIPT is 100% (13/13), and the positive predictive value 100%(13/13). The detection rate of the combination screening (STSS+NIPT) is 93.33%(14/15), false positive rate 1.62%(169/10429), and the positive predictive value 7.65%(14/183). Conclusions:The prenatal screening in the second trimester for DS, which combine STSS with NIPT, can improve the positive predictive value, and reduce the rate of fetal loss due to invasive prenatal diagnosis, which provide a suitable DS screening in Tianjin district.关键词
唐氏综合征/妊娠中期/产前诊断/遗传筛查Key words
Down syndrome/Second trimester/Prenatal diagnosis/Genetic screening引用本文复制引用
姚静怡,崔岚,岳胜,董玲,邱中娟,辛力..孕中期联合血清学和NIPT进行唐氏综合征筛查的回顾性分析[J].国际妇产科学杂志,2017,44(3):343-346,4.
