产前筛查先天性缺陷与胎儿染色体异常的研究  

Study on prenatal screening of birth defect and fetal chromosomal abnormality

作　　者：钟可文 陈朝轩[2] 潘景良[2] 张应华[1] 

机构地区：[1]广东省佛山市禅城区南庄医院,528061 [2]广东省佛山市第一人民医院

出　　处：《中国妇幼保健》2011年第30期4750-4751,共2页Maternal and Child Health Care of China

摘　　要：目的:探讨孕中期血清标志物在产前筛查先天性缺陷与胎儿染色体异常中的作用和价值。方法:对2 555例孕中期(14～22周)孕妇血清AFP、β-hCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行染色体检查确认。结果:2 555例孕妇中筛查出唐氏综合征高风险210例,占8.2%,18-三体高风险26例,占1.0%,NTD高风险29例,占1.1%,高风险孕妇中有207例自愿进行了羊水细胞染色体检查或胎儿脐血染色体检查,检测出染色体异常核型12例,异常率为5.8%。结论:孕中期血清三联标志物筛查胎儿先天缺陷是行之有效的方法,可以作为产前筛查的常规手段。Objective：To explore the function and value of serum markers during the second trimester of pregnancy in prenatal screening of birth defect and fetal chromosomal abnormality. Methods：The serum levels of alpha fetal protein（AFP）,β-human chorionic gonadotropin（β-HCG） and unconjugated estriol among 2 555 pregnant women during the second trimester of pregnancy（14~22 gestational weeks） were detected,then risk probability was calculated combining maternal age,gestational weeks,body weight,twin pregnancy or not,diabetes mellitus or not on software;the high risk pregnant women were defined by chromosomal examination. Results：Among 2 555 pregnant women,210 pregnant women were found with high risk of Down＇s syndrome,accounting for 8.2%;26 pregnant women were found with high risk of trisomy 18 syndrome,accounting for 1.0%;29 pregnant women were found with high risk of neural tube defect,accounting for 1.1%.Among the high risk pregnant women,207 pregnant women received chromosomal examination of amniotic fluid cells or chromosomal examination of fetal umbilical cord blood,12 pregnant women were found with abnormal chromosomal karyotype,the abnormal rate was 5.8%. Conclusion：Triple markers screening during the second trimester of pregnancy is an effective method to screen fetal congenital defects,which can be used as a conventional method for prenatal screening.

关 键 词：产前筛查 先天缺陷 血清标志物 染色体异常 

分 类 号：R715.5[医药卫生—妇产科学]