孕中期唐氏综合征筛查的临床意义

Clinical significance of Down's syndrome screening in the second trimester of pregnancy

目的:探讨游离β-人绒毛膜促性腺激素(β-HCG)、甲胎蛋白(AFP)、游离雌三醇(uE3)三联筛查法在孕中期唐氏综合征筛查中的作用。方法:采用时间分辨荧光法检测孕妇外周血三个血清学指标,通过计算机软件分析孕妇唐氏综合征风险率。高风险孕妇在知情同意的原则下实行羊水穿刺进行产前诊断。结果:4116例唐氏筛查标本中检出高风险216例,阳性率为5.25%,经羊水产前诊断为唐氏儿6例,唐氏儿发生率为0.17%,假阳性率为5.11%,假阴性为0.026%。结论:孕妇实行唐氏三联法血清学筛查是预防唐氏儿出生的有效方法,能显著降低唐氏儿的出生率。

Objective： To investigate the role of triple screening method including free beta human chorionic gonadotropin （β-HCG）, alpha-fetoprotein （AFP）, unconjugated estriol （uE3） of Down＇s syndrome （DS） in the second trimester of pregnancy. Methods： The three serum index of maternal serum were detected by time-resolved fluorescence （TrF） measurement, and high-risk case of DS was analyzed by the specific computer software. The prenatal diagnosis of DS depended on amniocentesis according to informed consent principle. Results： 216 high-risk cases of DS were found, among which 4 116 cases were taken DS screening, the positive rate was 5.25%. 6 cases were diagnosed as Downs child by amniocentesis, the occurrence rate of Downs child and false positive rate, false negative rates were 0.17%, 5.11%, 0.026% respectively. Conclusion： Triple screening analysis of second-trimester pregnancy serum is an effective method to prevent Downs child birth. It can significantly decrease Downs child birth rate.