NIPT联合孕中期血清学筛查用于唐氏综合征筛查的价值

张晨晖 朱波 汪海 董叶 林梦梦 夏淑琦 郑加永

[关键词] 联合筛查;唐氏综合征;NIPT;血清学筛查

[中图分类号] R714.5          [文献标识码] B          [文章编号] 1673-9701（2021）25-0074-04

The value of NIPT combined with serological screening in the second trimester for Down syndrome screening

ZHANG Chenhui   ZHU Bo   WANG Hai   DONG Ye   LIN Mengmeng   XIA Shuqi   ZHENG Jiayong

Department of Reproductive Genetics，Wenzhou People′s Hospital in Zhejiang Province， Wenzhou Women and Children′s Hospital， Wenzhou   325000， China

[Abstract] Objective To explore the research value of noninvasive prenatal testing （NIPT） combined with second trimester serological screening in Down syndrome（DS） screening. Methods A total of 12 719 pregnant women in our hospital from January 2017 to December 2018 were selected for group study.The results of second trimester serological screening， NIPT screening were statistically analyzed.The diagnostic accuracy rate of the second trimester serological screening， NIPT screening，and combined screening in Down syndrome screening was compared. All pregnant women had follow-up records and pregnancy outcomes. The combined screening result was based on the NIPT result as the final screening result. Results The DS high-risk rate of the second trimester serological screening was 3.24%（412/12 719）， the false-positive rate was 3.20%（407/12 719）， and the positive predictive value was 1.21%.The DS high-risk rate of NIPT screening was 0.36%（18/5016）， the false-positive rate was 0.06%（3/5016）， and the positive predictive value was 83.33%.The DS high-risk rate of the combined screening was 0.31%（3/957）， the false-positive rate was 0%， and the positive predictive value was 100.00%.The DS false positive rate of the combined screening was significantly lower than that of traditional second trimester serological screening（χ2=31.56， P=0.000）.The positive predictive value of the combined screening was also significantly higher than that of traditional second trimester serological screening（χ2=153.74， P=0.000）. Conclusion Combined screening is an effective means to predict abnormal fetuses and adverse pregnancy outcomes.It can also greatly improve the positive predictive value of traditional serological screening and reduce the burden of prenatal diagnosis on pregnant women.

[Key words] Combined screening; Down syndrome; NIPT; Serological screening

唐氏綜合征（Down syndrome，DS）在临床中是比较常见的一种染色体疾病，由配子形成过程中染色体不分离所导致[1]，临床主要表现为先天性智力低下、颅面畸形、认知障碍、肌张力低下[2]等，同时还会给家庭和社会带来沉重的负担。传统的唐氏综合征筛查主要采用二联甲胎蛋白和人绒毛膜促性腺激素游离β亚基（AFP+freeβ-hcg）、三联（AFP+freeβ-hcg+游离雌三醇ue3）等发光免疫检测法[3]，存在漏诊率高、假阳性高等问题。本研究就无创产前检测（Noninvasive prenatal testing，NIPT）联合二联发光免疫检测法与传统孕中期血清学二联筛查进行比较，旨在探讨NIPT联合二联发光免疫检测法进行DS筛查的临床应用价值，现报道如下。