7059例孕妇唐氏综合征筛查及羊水产前诊断  

7059 cases of serological screening for Down′s syndrome and fetal karyotype analysis through amniocentesis

作　　者：陆建英[1] 王天飞[1] 杨惠珠[1] 郭茗[1] 骆敏[1] 郁凯明[1] 孙路明[1] 段涛[1] 

机构地区：[1]上海市第一妇婴保健院产前诊断中心,同济大学附属第一妇婴保健院200040

出　　处：《中国优生与遗传杂志》2007年第7期24-25,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨唐氏综合征筛查与羊水产前诊断的关系。方法采用时间分辨免疫荧光分析法,由wallac提供Multicalc产前筛查软件,计算唐氏征风险率。高危孕妇经遗传咨询,知情同意,进一步羊水细胞染色体核型分析,确诊。结果接受筛查7059例孕妇,469例为高风险,高风险率6.64%。282例高风险孕妇进一步羊水产前诊断,胎儿染色体异常9例,检出率3.1%。羊水核型异常有21—三体,短臂增加,平衡易位,倒位,缺失,性三体。结论羊水产前诊断为唐氏征筛查提供了有效的诊断,产前诊断是减少出生缺陷的发生,提高人口质量不可缺少的技术手段。Objective： To explore the relationship between prenatal diagnosis techniques of serological screening for Down＇s Syndrome and fetal karyotypie diagnosis through amniocentesis. Methods ： Serum AFP and free - β - HCG of prenatal women were detected by time- distinguished fluorescence immunoassay, then we use Muhicalc software to calculate Down＇s syndrome risk value. All high risk pregnant women had experienced genetic consults and signed content forms before they received amniocentesis to get standard diagnostic outcomes of fetal karyotype. Results： Of the 7059 pregnant women who underwent the serological screening, 469 are in high risk of Down＇s Syndrome, and the positive rate is 6. 64%. Fetal karyotypes of 282 cases were examined by amniocentesis. 9 cases of fetal chromosomal abnormalities were detected and the detective rate was 3. 1%. The abnormal karyotypes include ＋ 21, p ＋, t, inv, del, ＋ X or ＋ Y. Conclusion： The fetal karyotype analysis through amniocentesis provides an effective prenatal diagnosis method for serological screening in the diagnosis of Down＇s syndrome. Prenatal diagnosis is an indispensable technique that will help prevent congenial defects and improve the population quality.

关 键 词：唐氏征筛查 产前诊断 遗传 

分 类 号：R714.5[医药卫生—妇产科学]