孕中期唐氏综合征筛查的临床意义(1)
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[摘要] 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：4 116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。
[关键词] 产前筛查；产前诊断；唐氏综合征；染色体
[中图分类号] R714.53[文献标识码] B[文章编号] 1673-7210(2010)10(b)-062-03
Clinical significance of Down's syndrome screening in the second trimester of pregnancy
YU Xiang, LI Hui, YU Xiaoyan
(Clinical Laboratory Center, the Central People's Hospital of Huizhou City, Guangdong Province, Huizhou 516001, China)
[Abstract] 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.
[Key words] Prenatal screening; Prenatal diagnosis; Down’s syndrome; Chromosome
唐氏综合征(Down's syndrome，DS)又称先天愚型或21-三体综合征，是胎儿先天缺陷中最常见的一种染色体病，唐氏综合征目前缺乏有效的治疗手段，因此孕妇产前筛查唐氏综合征和羊水产前诊断是防止和降低患儿出生的有效方法。为了探讨孕中期唐氏综合征血清学筛查指标变化，本文通过对4 116例孕妇唐氏综合征产前筛查结果及161例羊水检验结果进行分析，现报道如下：
1 资料与方法
1.1 检验对象
2008年1月～2009年5月来我院产科就诊的孕妇，孕妇年龄为21～43岁。在孕中期14～20周+6行唐氏综合征中期筛查，均以知情、自愿为原则接受筛查。筛查高风险孕妇以知情、自愿为原则接受羊水产前诊断。共筛查4 116例，施行羊水产前诊断161例。
1.2方法
孕中期(14～20周+6)来我院产检的孕妇在知情同意的原则下抽取静脉血约3 ml做唐氏筛查，抽血后及时分离血清，不能及时检测的血清标本放-20℃冰箱保存 ......
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