Dai Peng, Kong Xiangdong
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):1012-1016. doi: 10.3760/cma.j.cn511374-20200502-00321.
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.
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).
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.
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.
探讨扩大的无创产前检测（NIPT-plus）对唐氏综合征高风险胎儿血清学筛查的临床效果。
回顾性研究2018年9月至2019年12月在本中心因唐氏综合征血清学筛查高危（≥1/270）而接受NIPT-plus检测的1561例中期孕妇的筛查结果、产前诊断及妊娠结局。
1561例行NIPT-plus检测的孕妇中，45例高危，检出率为2.88%（45/1561）。40例孕妇接受了侵入性产前诊断，20例确诊，阳性预测值为50.0%（20/40）。统计分析表明，NIPT-plus在0.1/90组中对21三体、性染色体非整倍体和微缺失微重复综合征的检出率较高，但阳性预测值低于其他两组。
NIPT-plus在不同组唐氏高危孕妇中的检出率和阳性预测值不同。NIPT-plus可减轻产前诊断压力，可作为孕妇唐氏综合征高危筛查方法。
