产前筛查先天性缺陷与胎儿染色体异常的研究

Prenatal screening for congenital defects and research on fetal chromosomal abnormalities

目的探讨孕中期血清标志物在产前筛查胎儿染色体异常的作用和价值。方法对2 555例孕中期(14～22周)孕妇血清甲胎蛋白、β-HCG和uE3 3项指标进行检测,并结合孕妇年龄、孕周、体质量、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,占筛查总数的8.2%;18-三体综合征高风险26例,占筛查总数的1.0%;神经管缺陷高风险29例,占筛查总数的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%。结论孕中期孕妇血清唐氏综合征、18-三体综合征、神经管缺陷联合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项目。

Objective To explore the the role and value of serum markers during second-trimester pregnancy in prenatal screening of fetal chromosomal abnormalities. Methods Serum samples were collected from 2 555 preg- nant women at second trimester（14--22 weeks）, and AFP,β-HCG and uE3 were determined by fully automatic mi- croparticle luminescence immunoassay（MLIA）. Combined with maternal age, gestational weeks, body weight, whether or not twin pregnancy,diabetes,etc. ,the risk probability was calculated by the instrument bundled software and the high-risk pregnant women were verified by the chromosomal examination. Results Among 2 555 pregnant women, the high risk of Down＇s syndrome was in 210 cases,accounting for 8.2% ,the high risk of trisomy 18 syndrome was in 26 cases,accounting for 1.0% and the high risk of neural tube defects was in 29 cases（1.1%）. Among high risk pregnant women,207 cases were voluntarily performed the amniotic fluid cell chromosome examination or embryo cord blood chromosome examination,and 12 cases of chromosome abnormality core were detected with the abnormali- ty rate of 5.8%. Conclusion Serum triple screening for fetal birth defects during second-trimester pregnancy is effec- tive method and can be used as the routine measure of prenatal screening.