母血中胎儿有核红细胞的荧光原位杂交法在产前诊断中的可行性探讨

Fluorescence In Situ Hybridization of Fetal Nucleated Red Blood Cell in Maternal Blood for Prenatal Diagnosis

探讨荧光原位杂交法 (FISH)对母血中胎儿有核红细胞 (NRBC)进行无创性产前诊断的可行性。 2 0例孕龄 15～ 2 0周的孕妇外周血经不连续密度梯度离心、制片、显微镜下识别并计数 NRBC及定位 ,然后行 Y染色体的 FISH检测。结果发现 10例孕男性胎儿的孕妇外周血细胞涂片中每例均有阳性杂交信号出现 ;阳性率为 6 0 % (2 4 / 4 0 )。 10例孕女性胎儿的孕妇外周血细胞涂片中 1例出现阳性杂交信号 ;阴性率为 95 % (38/ 4 0 ) ,假阳性率仅为 5 % (2 / 4 0 )。结果提示

The feasibility of fluorescence in situ hybridization (FISH) using fetal nucleated red blood cells (NRBCs) isolated from maternal blood was studied for non invasive prenatal diagnosis. NRBCs of peripheral blood from 20 pregnant women with a gestation of 15 20 weeks were counted under a microscope and located. Y chromosome was detected by FISH. It was found that all of 10 pregnant women who carried male fetus showed Y chromosome positive signals in the smears with the positive rate being 60 % (24/40). In the 10 pregnant women who carried female fetus, one case showed Y chromosome positive signals in the smears with the negative rate being 95 % (38/40) and the false positive rate being 5 % (2/40). It was concluded the FISH using fetal NRBCs from maternal blood for prenatal genetic analysis was of great value.