孕中期NIPT应用于唐氏综合征筛查的效果分析

An Analysis of the Effect of NIPT in the Treatment of Down's Syndrome in the Second Trimester

目的分析孕中期NIPT应用于唐氏综合征筛查的效果。方法研究选取孕妇998名进行研究,采用NIPT检测所有研究对象,并联合进行血清学检测即使用荧光免疫技术测定孕妇血清AFP、游离的AFP、u E3以及游离β-h CG水平;以血清学和NIPT同时阳性为高风险。进一步进行羊水穿刺检查进行确诊,同时随访新生儿出生后1周的母婴情况。研究使用SPSS 20.0行统计分析.结果研究中受试对象中单纯NIPT检测的高风险检出14例,检出率为1.40%;联合血清学检查高风险的孕妇检出12例,阳性率为1.20%。NIPT联合血清学检测高风险的12例孕妇平均孕周17.5±3.2周,孕妇平均年龄26.4±3.0岁;低风险组平均18.1±2.0孕周,孕妇年龄为25.2±3.2岁;高风险孕妇平均年龄高于低风险组孕妇,P<0.05。高风险孕妇中10例接受了羊水侵入性产前诊断,经胎儿染色体核型分析,检出胎儿染色体异常的概率为6例,总的异常发生率为0.60%;2例孕妇拒绝羊水穿刺,随访新生儿出生1周情况,未见唐氏综合征患儿出现。NIPT对唐氏综合征的检出阳性预测值为100%。结论孕中期NIPT联合血清学检测应用于唐氏综合征筛查效果优良,值得临床推荐。

Objective To analyze the effect of NIPT（noninvasive prenatal testing） in the treatment of Down＇s syndrome in the second trimester. Methods A total of 998 pregnant women were enrolled in this study. NIPT was conducted in all subjects. The serum AFP,free AFP,u E3 and free β-h CG levels were also measured by fluorescence immunoassay. The serological and NIPT Positive patients were considered as high risk. Further examination of amniotic fluid was performed for confirmation and the mother and child were followed up for1 week after birth. The study was performed by using SPSS 20. 0 for the statistical analysis. Results 14 high risk cases were found by using NIPT alone and the detection rate was 1. 40%. When combined with the serological test,12 high risk cases were found and the positive rate was 1. 20%. Among them,the average gestational age were 17. 5 ± 3. 2 weeks and the average age were 26. 4 ± 3. 0 years old; while the average gestational age of lowrisk group were 18. 1 ± 2. 0 weeks and the average age were 25. 2 ± 3. 2 years old. The average age of high-risk pregnant women was higher than that of low-risk group,P〈0. 05. 10 cases of high risk pregnant women received amniotic fluid invasive prenatal diagnosis. By fetal chromosome karyotype analysis,fetal chromosomal abnormalities were found in 6 cases,and the total abnormal rate was 0. 60%; 2 cases of pregnant women refused the amniocentesis. By following-up newborns for 1 week,no Down＇ s syndrome was found. The positive predictive value of NIPT for Down＇ s syndrome was 100%. Conclusion NIPT combined with serological detection in early pregnancy is effective for the screening of Down＇ s syndrome and is worthy of clinical recommendation.