非结合雌三醇在孕中期产前筛查中的应用研究

Application of unconjugated estriol in prenatal screening during second trimester pregnancy

目的比较孕中期产前生化筛查中三联筛查与二联筛查的筛查效率,评估非结合雌三醇(uE3)在产前筛查中的应用价值。方法应用时间分辨荧光检测技术,对同意接受产前筛查的孕14+0d^20+6d周单胎妊娠孕妇血清标本进行检测,测定甲胎蛋白(AFP)、人绒毛膜促性腺激素游离β亚基(freeβ-HCG)、uE3浓度。使用Multical软件分别计算三联筛查(AFP+freeβ-HCG+uE3)和二联筛查(AFP+freeβ-HCG)的风险值,通过比较两种联合筛查风险模型(两联筛查、三联筛查)结果(灵敏度、特异度、假阳性率、假阴性率、筛查阳性率)的差异,以及uE3单项指标水平(升高或降低)与妊娠结局的关联,探讨uE3在产前筛查中的价值。结果在1 839例随访到妊娠结局的孕妇中,共发现唐氏综合征7例,当风险截断值为1/270时,二联的灵敏度、特异度、假阳性率、假阴性率、筛查阳性率分别是57.1%、91.7%、5.3%、42.9%、5.7%;三联筛查的依次是85.7%、93.8%、6.2%、14.3%、6.5%。uE3单项指标异常176例,筛查阳性率为9.57%,检出率为26.1%。结论临床应用上,联合uE3的三联筛查的效率高于二联筛查;uE3单一指标对产前筛查辅助诊断具有一定的提示意义,联合筛查对疾病预示有较好的效果。

Objective To compare the screening effectiveness of the double test and the triple test in the prenatal biochemical screening during second trimester pregnancy and to evaluate the application value of unconjugated estriol （ uE3 ） in the prenatal screening. Methods The levels of human chorionic gonadotropin free β subunit（free β-HCG）,alpha-fetoprotein （AFP） and uE3 from serum samples of singleton pregnant women receiving the prenatal screening were detected by time-resolved fluoroimmunoas-say. The values at risk of the double test （AFP＋free β-HCG） and the triple test （AFP＋free β-HCG＋uE3） were calculated by the Multical software respectively. The value of uE3 in the prenatal screening was evaluated by comparing the difference between the double test and the triple test and the associations between the level of single uE3 with the pregnancy outcome. Results Among 1 839 pregnant women with follow-up pregnant outcome,7 cases of Down＇s syndrome were found. When the cut-off value at risk was set at 1 ： 270,the sensitivity, specificity, false positive rates, false,negative rates and screening positive rates in the double test and the triple test were 57.1%,91.7%,5.3%,42.9%,5.7% and 85.7,93.8%,6.2%,14.3% ,6.5% respectively. 176 cases was found to be the single abnormality of uE3 with the screening positive rates of 9.57% and the detection rate of 26.1%. Conclusion The triple test including uE is more effective screening option for Down＇s syndrome than the double test in clinic. The level of single uE3 has certain implication significance for the prenatal auxiliary diagnosis and the combination detection has better effect for the disease prediction.