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目的 探讨孕早期孕早期Down’s综合征的产前筛查及产前诊断方案。方法 时间分辨荧光免疫法 (TRFIA)对孕 8- 13w的 5 ,4 33例孕妇血清中的 β -hCG、PAPP -A2种血清标记物进行检测 ,筛查出 8例DS胎儿 (通过绒毛染色体核型分析和STR -PCR分析明确诊断 ) ;比较分析 8例DS胎儿母血清与 184例对照病例血清中两种标记物水平。结果 DS组母血中 β-hCG、PAPP -A水平均值分别为 2 .31MoM和 0 .4 2MoM ,与对照组差别有显著性意义 ( P <0 .0 5 ) ;β -hCG、PAPP-A两项指标联合筛查 ,DS的阳性检出率为 75 % ,假阳性率为 8.35 % ;有 7例DS胎儿经绒毛染色体核型分析确诊 ,3例DS胎儿经PCR -STR分析确诊。结论 孕早期 β -hCG、PAPP -A两联标记物筛查DS可以达到孕中期三联标记物筛查效果 ;细胞遗传学与分子遗传学相结合可以提高产前诊断的成功率和准确性
Objective To investigate the prenatal screening and prenatal diagnosis of Down’s syndrome during early pregnancy in early pregnancy. Methods The time-dependent fluorescence immunoassay (TRFIA) was used to detect serum β -hCG and PAPP-2A serum markers in 5,437 pregnant women from 8 to 13w pregnant women. Eight cases of DS fetuses (identified by chorionic chromosome nuclei Type analysis and STR-PCR analysis of clear diagnosis); comparative analysis of 8 cases of DS fetal maternal serum and 184 cases of control serum levels of two markers. Results The mean levels of β-hCG and PAPP-A in maternal serum of DS group were 2.31MoM and 0.24MoM, respectively, which were significantly different from those of control group (P <0.05); β -hCG and PAPP-A The combined detection of two indexes showed that the positive rate of DS was 75% and the false positive rate was 8.35%. Seven cases of DS fetuses were diagnosed by chorionic karyotype analysis and 3 cases of DS fetuses were confirmed by PCR-STR analysis. Conclusion The screening of DS with dual markers of β -hCG and PAPP-A in early pregnancy can achieve the screening effect of triad markers in the second trimester. The combination of cytogenetics and molecular genetics can improve the success rate and accuracy of prenatal diagnosis