唐氏综合征产前血清学筛查与超声诊断联合运用的探讨

Study on the clinic value of serological screening and ultrasonic measurement of fetal nuchal translucency for Down′s syndrome

目的探讨用血清学指标和超声联合筛查唐氏综合征(DS)的临床价值。方法妊娠11～14周采用超声检查胎儿颈部透明膜厚度(NT);妊娠15～21周,采用化学发光法测定孕妇血清中甲胎蛋白、人绒毛膜促性腺激素、游离雌三醇含量,用风险统计软件进行风险率计算,以1∶380作为高风险的切割值;二者结合以确定高危人群。结果 4 271例孕妇中,胎儿NT超声筛查阳性率为1.12%,3例确诊,1例漏筛,检出率为75.00%;血清学筛查阳性率为5.29%,3例确诊,1例漏筛,检出率为75%。结论血清学指标联合超声诊断筛查DS有很好的临床价值。

Objective To investigate the clinic value of serological screening and ultrasonic measurement of fetal nuchal translucency for Down′s syndrome（DS）.Methods The fetal nuehal translucency was assessed by ultrasound scan after 11-14 weeks.The maternal serum alpha fetoprotein（AFP）,human chorionic gonadotrophin（β-HCG） and free estriol（u-E3） were examed after 15-21 weeks.A combined risk was estimated.When the risk was 1∶380,it was regarded as the cut-off value of high risk.Results 48 high risk gravidas were found from the 4 271 gravidas screened by ultrasonographic measurement and the positive rate in DS screening was 1.12%.3 fetuses with DS were diagnosed and 1 case with DS failed for sereenig.The detection rate of DS was 75.00%.226 high risk gravidas were found from 4 271 gravidas screened by serological screening and the positive rate in DS screening was 5.29%.3 fetuses with DS were diagnosed and 1 case with DS failed for screening.The detection rate of DS was 75.00%.Conclusion Combined serum markers detection with ultrasound scan may play an important role in the screening of DS.