唐氏综合征产前筛查指标中位数倍数值在实验室质量控制中的应用价值探讨

Discussion on the application value of median multiple value of prenatal screening index for Down syndrome in laboratory quality control

目的 探讨唐氏综合征产前筛查指标中位数倍数值(MoM)在实验室质量控制中的应用价值。方法 回顾性分析10 053例进行唐氏综合征产前筛查孕妇病例资料,均用化学发光法检测甲胎蛋白(AFP)、非结合雌三醇(uE3)、人绒毛膜促性腺激素(HCG),建立MoM监测系统,统计并分析唐氏综合征筛查结果及各指标MoM中位数(mMoM)值变动对筛查效率的影响。结果 筛查的10 053例孕妇中,共检出10例染色体异常者,检出率为0.10%,其中唐氏综合征的阳性率为4.25%,18-三体综合征的阳性率为2.21%,先天性神经管缺陷的阳性率为1.22%。AFP、游离人绒毛膜促性腺激素β亚基(F-β-HCG)、uE3各指标mMoM发生>10%的偏移会严重影响唐氏综合征筛查的质量。结论 唐氏综合征产前筛查指标的mMoM监测可提高检出水平,减少假阳性率,防止缺陷胚胎继续发育,保证优生优育,对提高我国人口素质具有重要意义。

Objective To investigate the application value of median multiple number(MoM) in prenatal screening for Down syndrome in laboratory quality control. Methods The data of 10 053 pregnant women who underwent prenatal screening for Down syndrome were retrospectively analyzed, and alpha-fetoprotein(AFP), unbound estriol(uE3) and human chorionic gonadotropin(HCG) were detected by chemiluminescence method, and a MoM monitoring system was established. The results of screening for Down syndrome and the effect of changes in the median MoM value of each index on screening efficiency were analyzed.Results Among the 10 053 pregnant women, 10 cases of chromosome abnormality were detected, the positive rate was 0.10%, the positive rate of Down syndrome was 4.25%, trisomy 18 syndrome was 2.21%, and the positive rate of congenital neural tube defect was 1.22%. If the mMoM of AFP, F-β-HCG and uE3were more than 10% offset, the screening quality of Down syndrome would be seriously affected. Conclusion The mMoM monitoring of prenatal screening index of Down syndrome can improve the detection level, reduce the false positive rate, prevent the development of defective embryos, ensure good birth and good birth, which is of great significance to improve the quality of Chinese population.