唐氏综合征产前筛查5813例分析

Analysis of antenatal screening on 5 813 cases of Down's syndrome

目的:探讨唐氏综合征筛查与B超相结合的方法在早期诊断胎儿缺陷方面的作用,研究降低缺陷胎儿出生的对策。方法:用全自动化学发光分析法检测母亲血清标记物甲胎蛋白(AFP)和绒毛膜促性腺激素(β-HCG),并结合孕妇年龄、体重、孕周等因素计算唐氏综合征风险率,唐氏综合征风险切割点为1∶380,>1∶380为唐氏高危,结合B超、羊水、脐带血进行细胞培养染色体分析确诊,并随访追踪。结果:共筛查5813例,筛查阳性率为8.74%;其中确诊为唐氏综合征2例,脊柱裂3例,其它异常13例。结论:利用唐氏筛查结合B超产前诊断,能够提高胎儿先天缺陷的早期发现和诊断。

Objective： To explore the function of the method of combing screening on Down＇s syndrome with uhrasonography for early diagnosing fetus disfigurement and to study the strategy of decreasing the born of fetus with disfigurement. Methods： AFP and Free β - HCG in mother＇s blood serum were inspected by automatic chemical radiation method, meanwhile, combining the age, weight and pregnant durations to count the risk probability, the cut point was 1 ： 380. When it was over 1 ： 380, the fetus belonged to the group of high risk. The final diagnosis was confirmed through the approach of integrating B ultra - sound and cell chromosome analysis. All the positive cases were followed up then. Results： Totally5 813 were screened, the positive rate was 8. 74%, 2 cases of them were diagnosed as Down＇s syndrome, 3 as spinal split, 13 as other abnormity. Conclusion： The method of combining screening on Down＇s syndrome and ultrasonography could increase the early detection and diagnosis of fetus disfigurement.