孕早期妇女血清学与超声学联合筛查Down综合征

Screening Down′s syndrome by serology and sonography in the early pregnant woman

目的 探讨孕早期妇女血清学与超声学联合应用于Down综合征产前筛查的可行性。方法 ELISA方法检测妊娠8～14w1128例妇女血清中妊娠相关蛋白A（PAPP-A）、游离β-hCG（f-β-hCG）水平；超声测量妊娠10～14w胎儿颈项透明厚度（NT）；结合孕妇年龄、体重，预测Down综合征疾病的风险，并随访其妊娠结局。结果 在筛查的1128例早孕妇女中，84例为Down综合征高风险，染色体核型确诊1例Down综合征。随访1025例，22例为异常妊娠结局，19例稽留流产，2例胎死宫内，1例为先天性心脏病。结论 检测孕妇血清中PAPP-A、f-β-hCG含量和超声测量NT应用于筛查Down综合征，可以降低缺陷儿的出生，适合大范围的产前筛查。

Objective： To explore the feasiability of the technology associated serology and sonography screeing the Down＇s syndrome in the early pregnant woman. Methods： Checking PAPP -A , f- β -hCG in the blood of thel 128 cases of 8 -14 week＇S pregnant by elisa, checking the NT （ nuchnl translu - cency ） of embryo of 10 - 14 weeks by sonography associated with the items of age and weight , previewing the opportunity of the Down＇s syndrome , and visiting the end of the pregnant. Results： Of the 1128 cases , 84 cases axe high dangerness of getting Down＇S syndrome , 1 is diagnosed as Down; s syndome by gene test. 1025 cases axe visited , 22 cases are unnormal pregnant, 19 cases axe missed abortion, 2 cases are dead embryos before birth , 1 case is a cardiac child . Conclusion ： Screening Down＇s syndrome by immunity checking the PAPP - A , f - β - Hcg , and sonography survey NT is an rehable descreasing technology that provides the birth of disable baby , and it is a large - scale screeing before birth.