孕中期母血清产前筛查3142例结果分析

摘要

Objectives: To screen Down' s syndrome and the related disease by detecting maternal mid - pregnancy serum alpha - fetoprotein (AFP) , human chorionic gonadotropin beta subunit (Free β - HCG) , free three female alcohol (uE3) , combining with B ultrasound and amniotic fluid chromosome examination. Methods:Determination of AFP, Free β- HCG and uE3 quantity by DELFIA kits provided by the Finland Wallac Company. Results: Among the 3142 cases, 196 cases were found out to be at high risk through the second trimester maternal screening, including 132 cases at high risk of Down' s syndrome, 33 cases of 18 - trisomy , 31 cases of neural tube defects. Pregnant women under 35 years old were at lower risk that those who were over 35. Among 98 cases which took amniotic fluid chromosome examination, 2 cases of Down' s syndrome were found out. One case was diagnosed as myelomeningocele by doing B ultrasound. Conclusion:It is of great importance to perform mid trimester prenatal screening so as to prevent and reduce born defects.%目的:通过对孕妇孕中期血清甲胎蛋白(AFP)、绒毛膜促性腺激素β亚单位(Free β-HCG)、游离雌三醇(uE3)检测,结合B超和羊水细胞染色体检查,进行以唐氏综合征(Down′sSyndrome,D′S)为主的疾病筛查.方法:采用芬兰Wallac公司提供的DELFIA试剂盒测定AFP、Free β-HCG及uE3值.结果:3142例孕中期孕妇中筛查出高风险196例,其中唐氏综合征高风险132例,18-三体高风险33例,神经管缺陷高风险31例.以35岁年龄为界分组相比较年龄大的孕妇组风险率显著增高.筛查后进行羊水细胞染色体检查98例,发现唐氏综合征2例,神经管缺陷高风险中做B超发现胎儿脊髓膨出1例.结论:孕中期进行产前筛查非常必要,对预防和减少出生缺陷有重要作用.