沈阳市开展唐氏综合征系列产前筛查的方法及效果评价

Evaluation of methods used in antepartum screening of Down's syndrome in Shenyang

目的:探讨在妊娠中期筛查唐氏综合征系列[包括唐氏综合征和神经管畸形(简称唐筛)]的方法和群体干预的效果.方法:利用妇幼三级保健网络,进行唐筛的宣传、标本的采集、转运和检测母体血清中甲胎蛋白和绒毛膜促性腺激素的浓度;对高危孕妇进行咨询,对彩超诊断胎儿畸形并同意者做染色体核型分析确诊;全部进行产后随访.结果:1998～2005年5月共筛查6.25万人,城区筛查率为70%,确诊出生缺陷245例(其中神经管缺陷畸形105例、唐氏综合征等染色体异常17例).羊膜腔穿刺及羊水细胞培养成功率均达到100%.结论:在妇幼保健三级保健网络中开展唐氏综合征系列产前筛查是降低出生缺陷的有效措施,值得推广.

Objective： To evaluate the methods used in screening Down＇s syndrome and neural tube deformity during mid -trimes- ter pregnancy and the effects on population intervention. Methods： With the use of three - level health care network for women and children, the blood samples of gravida were collected and transferred from local communities to Shenyang Maternal and Children＇s Health Care Institute and then the level of AFP and chorionic - gonadotropin hormone in serum were assayed. Results： The total of 62 500 gravidas were screened from 1998 to May, 2005.70% gravidas in city area were involved in the screening. 245 cases of birth defects were confirmed, including 105 cases of neural tube defect and 17 cases of Down syndrome. The success rates of amniotic cavity puncture and amniotic cell culture were 100% and no complication of amniotic cavity puncture occurred. Conclusion： The data indicated that the methods and three - level health care network for women and children played an important role in screen Down＇s syndrome and neural tube deformity during mid - trimester pregnancy, and widespread utilization would be necessary.