早中孕期唐氏筛查血清标志物中位数方程的建立及其临床价值

The Establishment and Clinical Value of Medians of Serum Markers in Down's Syndrome Prenatal Screening

目的:建立石家庄地区人群早孕期和中孕期唐氏综合征筛查血清标志物的中位数,探讨本地化的唐氏筛查血清指标中位数方程对筛查效率的影响并分析其临床价值。方法:收集2017年1月至2018年11月期间的28930名孕妇的早孕期和中孕期产前筛查数据,分析妊娠相关蛋白-A(PAPP-A)、游离人绒毛膜促性腺激素β亚基(Free hCGβ)、甲胎蛋白(AFP)、游离雌三醇(uE3)、NT值等指标的软件中位数和本地中位数的差异;分别利用软件中位数和本地中位数对上述筛查数据进行唐氏综合征风险评估,比较筛查效率的差异。结果:1.在石家庄地区人群中,PAPP-A、Free hCGβ、uE3的浓度值中位数均高于软件自带的高加索人群的浓度值中位数,差异有统计学意义(P<0.05);AFP的浓度值中位数在两组人群中的差异无统计学意义(P>0.05)。2.早、中孕期产前筛查血清指标的中位数倍数(multiple of median,MoM)值中值在本地中位数方程和软件中位数方程中的差异有统计学意义(P<0.05)。3.利用本地人群中位数方程评估21三体综合征高风险率为2.33%,检出率为94.59%;利用软件内置中位数评估21三体综合征的高风险率为2.16%,检出率为86.48%,差异有统计学意义(P<0.05)。结论:石家庄地区人群的早、中孕期产前筛查血清标志物中位数和软件自带的高加索人群存在显著差异;本地人群早、中孕期唐氏筛查血清标志物中位数的应用能够显著提高产筛效率;建立石家庄地区人群的早、中孕期产前筛查血清标志物中位数数据库对于本地区产前筛查工作的开展有着十分重要的意义。

Objective:To establish the median equation of serum markers in prenatal screening in the early and middle pregnancy in Shijiazhuang area and explore the screening efficiency and clinical value of the localized median equation.Methods:We collected the screening data of the 28930 pregnant women in the first and second trimester from January 2017 to November 2018.The median values of PAPP-A,free hCGβ,AFP,uE3 and NT in both the software record and in local population were compared.Then the data were applied to the evaluation of the risk of Down's syndrome and compared the difference of the screening efficiency.Results:1.The median concentrations of PAPP-A,free hCGβ,uE3 in Shijiazhuang were higher than those of Caucasian population.The difference was statistically significant(P<0.05).There was no significant difference in the median concentration of AFP between the local population and the Caucasian population(P>0.05).2.There were significant differences between the MoM median of serum markers of local population and software median equation(P<0.05).3.By using the median of local population,the high-risk rate of trisomy 21 was 2.33%.The detection rate of trisomy 21 was 94.59%.By using the software's built-in median,the high-risk rate of trisomy 21 was 2.16%.The detection rate of trisomy 21 was 86.48%.The difference was statistically significant(P<0.05).Conclusion:The medians of serum markers were significantly different between the population of Shijiazhuang and the Caucasus population.The application of the localized median can significantly improve the screening efficiency.For the development of Down's screening in Shijiazhuang,it is of great significance to establish the localized median database of serums markers in the first and second trimester of pregnancy.