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

通过检查母体血液中循环的完整胎儿细胞进行的非侵入性产前诊断可用于诊断各种遗传性疾病。由于只有有限数量的胎儿细胞在母体血液中循环，因此需要采取程序来丰富细胞并实现高灵敏度的单细胞分析。最近，我们发展了分离方法，包括基于凝集素的方法和自动图像分析，从而提高了遗传分析的灵敏度。最近，我们通过对孕妇外周血中有核红细胞的分析，证实了产前诊断-21和-18三体的准确性。因此，这一进展支持了对遗传疾病进行非侵入性产前诊断的可能性。

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.