【摘要】 目的通过较大样本的人群血清学筛查,确立各孕周的血清AFP、β-HCG的中位数;比较各年龄组的筛查唐氏综合征高危比例,探讨高危人群范围。方法:对孕14-22w之间的孕妇,应用全自动酶放大化学发光免疫检测系统检测血清中AFP、β-HCG值,并通过风险计算软件进行风险计算。结果对1825例孕妇进行产前筛查,共筛查出唐氏征高危101例,其中41例行羊水穿刺,39例染色体核型分析正常,1例证实为21三体,1例为47,XYY。其余60例追踪新生儿无染色体疾病。唐氏征高危的检出率为5．5％,假阳性率5．4％。未发现假阴性病例。通过统计学分析建立各孕周的β- HCG,AFP的中位数,建立的β-HCG中位数通过体重的校正与原始提供参考值比较差异有显著性(t=2．562,P= 0．034),建立的AFP中位数通过体重校正与原始提供参考值比较差异有极显著性(t=3．754,P=0．005)。筛查人群呈正态分布,而年龄小于25岁组无一例唐氏征筛查高危者,高危人群随着年龄增加,检出率随之增加。结论血清学唐氏征筛查是简单元创的筛查手段之一。随着年龄增加惠染色体疾病风险率增加,对于年龄大于35岁的孕妇应积极进行筛查。目前仍需要多中心大样本的研究以建立适合国人的唐氏征血清学筛查的AFP,β-HCG的中位数值。更多还原

【Abstract】 Objective: To establish gestational age - specific Serum AFP and free - 3 - HCG level medians of pregnant women in our screening population. Methods: The level of maternal serum Alpha - fetoprotein and beta - hCG were measured with full automatic chemiluminescence immunoassay system at 14 -22 weeks’ gestation. Down’s syndrome risk value was calculated with Multicalc Software with cut off value at 1: 380. The high risk rates screened in different gestational age - groups were compared. Results: 1825 pregnant women received biochemical marker screening. 101 out of 1825 were found at high risk of Down syndrome (5. 5 % ). False positive rate was 5. 4%. No false negative case found in this study population. Amniocentesis was conducted in 41 of 101. 2 cases with fetal chromosome abnormalities were detected. The medians of serum level of AFP and free β - HCG were established with maternal weight correction. The significant differences between established medians and the original Gaussian ones were found. The high risk rate present uptrend with age. Conclusions: Maternal serum screening was effective means to defect fetal chromosome abnormalities. It is necessary to establish the median of AFP, BBB - HCG in Chinese population.更多还原