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目的探讨唐氏综合征(DS)筛查在高龄孕妇产前诊断中的意义。方法选择台州医院在2006年1月到2011年12月进行产前筛查的高龄孕妇。DS筛查采用时间分辨免疫荧光分析法检测孕中期孕妇血清标志物甲胎蛋白(AFP)和人绒毛膜促性腺激素(游离β-hCG),通过Multicalc和Risks2T风险评估软件进行风险评估。高龄孕妇行羊膜腔染色体检查,并追踪妊娠结局。数据处理采用SPSS 13.0统计软件,率的比较采用χ2检验,P<0.05为差异有统计学意义。结果本研究的4 187例高龄孕妇中21-三体发生率0.76%(32/4 187)、18-三体发生率0.31%(13/4 187)和13-三体发生率0.02%(1/4 187)。高龄孕妇中行DS筛查1 076例,其中高风险孕妇648例,21-三体发生率1.76%(11/626)和18-三体发生率15.15%(5/33);低风险孕妇428例,检出其他染色体异常5例。两组数据比较差异有统计学意义(P<0.01)。结论高龄孕妇行无创性产前筛查联合羊膜腔染色体诊断技术,其诊断效率明显高于未行产前筛查者,尤其是对于提高18-三体检出率具有重要临床意义。
Objective To investigate the significance of Down Syndrome screening in prenatal diagnosis of advanced pregnant women. Methods Taizhou Hospital in January 2006 to December 2011 for prenatal screening of pregnant women. DS screening Serum markers AFP and human chorionic gonadotropin (free β-hCG) were detected in pregnant women of the second trimester by time-resolved immunofluorescence assay, and risk assessment was performed with Multicalc and Risks2T risk assessment software. Older pregnant women underwent amniotic chromosome examination and follow-up of pregnancy outcomes. Data processing using SPSS 13.0 statistical software, rate comparison using χ2 test, P <0.05 for the difference was statistically significant. Results The incidence of 21-trisomy in the 4787 pregnant women in this study was 0.76% (32/4 187), 0.31% (13/4 187) for trisomy 18, and 0.02% (13% trisomy 3) / 4 187). There were 1 076 DS screening of advanced pregnant women, including 648 high risk pregnant women, 1.76% (11/626) of 21-trisomy and 15.15% (5/33) of 18-trisomy; 428 low risk pregnant women , Detected other chromosomal abnormalities in 5 cases. The difference between the two groups was statistically significant (P <0.01). Conclusion The diagnosis of geriatric pregnant women with noninvasive prenatal screening combined with amniotic chromosome diagnosis is significantly higher than that without prenatal screening, especially for the detection of 18-trisomy.