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目的建立快速无创性产前诊断唐氏综合征的有效诊断模式。方法从98名孕妇中筛选出12名高度怀疑唐氏妊娠者,当日流式细胞术分选母血中的胎儿有核红细胞(Fetal nucleated red blood cells,FNRBCs),制备滴片后,次日进行多重引物原位杂交(muti-primed in situ labeling,multi-PRINS)检测胎儿细胞21号、Y染色体。结果均可在两日内得到诊断结论 ,诊断10例正常胎儿和两例男性唐氏综合征胎儿,与实际胎儿核型完全一致。结论流式分选母血中胎儿有核红细胞后多重PRINS技术检测细胞染色体可作为快速无创性产前诊断的有效模式,并可为其他非整倍体异常和单基因病的快速无创性产前诊断提供有效参考。
Objective To establish a rapid and noninvasive prenatal diagnosis of Down Syndrome effective diagnosis mode. Methods Fetal nucleated red blood cells (FNRBCs) from fetus of 12 pregnant women who were highly suspected of Down’s pregnancy were screened from 98 pregnant women. The fetuses were prepared the next day Multiplex prion in situ hybridization (muti-primed in situ labeling, multi-PRINS) detection of fetal cells 21, Y chromosome. The results can be diagnosed within two days conclusion, diagnosis of 10 cases of normal fetus and two male fetus syndrome, and the actual fetal karyotype exactly the same. Conclusion Flow cytometry in maternal blood of the fetus after multiple nucleolar erythrocytes PRINS technology to detect cell chromosomes can be used as a rapid and noninvasive prenatal diagnosis of effective mode, and for other aneuploidy and single gene abnormalities of non-invasive prenatal Diagnosis provides a valid reference.