应用显微操作技术获取孕妇外周血中的单个有核红细胞 ,改良的PEP方法扩增单个有核红细胞的全基因组DNA ;在此基础上 ,应用荧光标记聚合酶链反应扩增 9个微卫星片段 ,进行基因型分析判定单个有核红细胞来源。综合性别和DMD基因内的数个STR位点连锁分析进行DMD基因诊断 ,应用PCR -STR连锁分析进行PKU基因诊断。结果显示 ,对 10例DMD高危胎儿中的 6例成功地进行了无创性产前基因诊断。同时对 1例PKU也成功地进行了无创性产前基因诊断。改良的PEP方法扩增单个细胞的全基因组可以满足基因诊断的要求 ,是无创性产前基因诊断中一种极有价值的全基因组扩增的方法 The microscopic technique was used to obtain single nucleated erythrocytes in peripheral blood of pregnant women. The improved PEP method was used to amplify whole genome DNA of single nucleated erythrocytes. On the basis of this, 9 microsatellite fragments were amplified by fluorescence-labeled polymerase chain reaction , Genotype analysis to determine the source of a single nucleated red blood cells. Multiple genomic and DMD genes within the STR loci chain analysis of DMD gene diagnosis, the application of PCR-STR linkage analysis PKU gene diagnosis. The results showed that noninvasive prenatal genetic diagnosis was successfully performed in 6 of 10 high-risk fetuses with DMD. At the same time, a case of PKU was also successfully conducted noninvasive prenatal diagnosis. The improved PEP method to amplify the whole genome of a single cell can meet the requirements of genetic diagnosis and is a valuable method of genome-wide amplification in non-invasive prenatal genetic diagnosis