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目的 探讨双色共变性荧光原位杂交用于非侵入性产前诊断胎儿唐氏综合征的可行性。方法 对 11例孕妇外周血中的胎儿有核红细胞进行抗血型糖蛋白磁珠直接标记 ,再经磁激活细胞分选法富集 ,以Y和 2 1号染色体专一探针对分离的胎儿有核红细胞行双色共变性荧光原位杂交 ,预测胎儿 2 1号染色体倍性和性别 ,并用羊水染色体核型分析结果 ,验证预测准确性。结果 11例胎儿 2 1号染色体倍性均正常 ,与羊水染色体核型分析结果相符。其中 5例为男性胎儿 ,男性胎儿有核红细胞数量为 9～ 6 5个 ,平均为 2 5个 ,男性胎儿有核红细胞纯度为 1 4%～ 18 8% ;6例为女性胎儿 ,孕妇外周血中未见男性胎儿有核红细胞 ;性别预测结果与羊水染色体核型分析结果一致。结论 双色共变性荧光原位杂交用于分析胎儿 2 1号染色体倍性及性别 ,诊断胎儿唐氏综合征准确、可靠。
Objective To investigate the feasibility of noninvasive prenatal diagnosis of Down’s syndrome in fetuses by two-color covariance fluorescence in situ hybridization. Methods Fetal nucleated erythrocytes in peripheral blood of 11 pregnant women were directly labeled with anti-glycoprotein beads and then enriched by magnetic activated cell sorting. The chromosomes of Y and chromosome 21 The nucleus erythrocytes were subjected to two-color co-denaturation fluorescence in situ hybridization to predict the ploidy and sex of fetus chromosome 2 1. The karyotype analysis of amniotic fluid chromosome was used to verify the prediction accuracy. Results The chromosomes of 11 fetuses were normal on chromosome 21 1, which was consistent with the karyotype analysis of amniotic fluid. Among them, 5 were male fetuses. The number of male fetuses with nucleated red blood cells was 9 ~ 65, with an average of 25, and the purity of nucleated red blood cells in male fetuses was 14% ~ 18.8%. Six cases were female fetuses and pregnant women with peripheral blood No male fetus with erythroblasts; sex prediction results and amniotic fluid chromosome karyotype analysis results. Conclusion Two-color covariation fluorescence in situ hybridization was used to analyze the ploidy and sex of fetus chromosome 21 and to diagnose fetal Down Syndrome accurately and reliably.