Non-invasive prenatal diagnosis of monogenic disorders using droplet digital PCR

ddPCR for cell-free DNA analysis has paved the way for non-invasive prenatal testing of monogenic disorders but the study of maternally-inherited mutations remains complex because of the predominance of maternal DNA background. ddPCR is an appropriate tool for the analysis of the fetal genoptype and in this presentation, Juliette discusses the two types of applications that have been developed for detection, identification and tracking of genomes – qualitative and quantitative.

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