怀化市孕中期唐氏综合征的血清筛查和产前诊断分析  

The prenatal screening analysis of 12,559 cases using triple test in Huaihua City

作　　者：伍姝林 肖刚[1] 李宴宾[1] 吴传潥 李蓉[1] 冯宗辉 

机构地区：[1]怀化市妇幼保健院产前筛查中心,湖南418000

出　　处：《中国优生与遗传杂志》2011年第12期54-55,104,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕中期采用甲胎蛋白(AFP)、游离β-绒毛膜促性腺激素(Free-β-HCG)、游离E3(uE3)联合筛查法在孕中期筛查唐氏综合征(DS)、神经管缺陷(NTD)及其他胎儿异常的可行性。方法应用时间分辨免疫荧光法检测孕妇血清中AFP、Free-β-HCG、uE3浓度,结合母龄、体重、孕周等个体参数,经过软件计算风险率;对高风险孕妇在知情的情况下,自愿选择进行染色体核型分析。结果 12 559例样本共筛查出高危孕妇862例,其中457例进行羊水染色体核型诊断;检出唐氏综合征儿16例,染色体结构异常27例,染色体多态11例。结论孕中期应用母血清三联法筛查,结合产前诊断是减少出生缺陷发生的有效手段之一。Objective： To evaluate the effeetiveness of screening Down＇s syndrome, Neural tube defects and other chromosomal abnormalities by combination of AFP, Free β - hCG and uE3. Methods ： Detect the AFP, Free β - hCG and uE3 with time - resolved fluroimmunoassay, calculate the risk using the risk assessment software with female age, weight, gestational age and other individual parameters. Results： There are 862 high -risk cases in 12559 pregnancies. There are 16 DS, 27 chromosomal abnormalities and 11 chromosome polymorphisms by testing 457 karyotype analysis of amniotic fluid. Conclusion ： Serum triple screening in second trimester combined prenatal diagnosis is a valuable test for reducing birth defects.

关 键 词：唐氏综合征 神经管缺陷 产前筛查 产前诊断 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]