Development of PCR-based whole-genome analysis method and the application for the prenatal diagnosis from maternal blood

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Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, we have developed the separation methods, including a lectin-based method and autoimage analyzing, leading to the improved sensitivity of genetic analysis. We recently proved the accuracy of the prenatal diagnosis of trisomy-21 and -18 by the nucleated erythrocytes analysis in maternal blood. Thus, this progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders.