Prenatal diagnosis method on isolated foetal cell of...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) G01N 33/50 (2006.01) G01N 33/543 (2006.01) G01N 33/569 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2452099

The invention concerns a novel non-invasive prenatal diagnostic method implemented with a sample of maternal blood. Said method enables prenatal diagnosis on isolated non-apoptotic epithelial foetal cells of maternal blood after they have been enriched by filtration, morphologically or immunologically and genetically analysed. Said method is advantageous in that it is perfectly harmless for the mother and the foetus and provides a highly sensitive and specific diagnosis. It enables early detection of a genetic or chromosomal abnormality of the foetus, of a genetic or infectious (viral, bacterial or parasitic) pathology of the foetus, of accurate genotype, and in particular of the genetic sex of the foetus.

La présente invention est relative à une nouvelle méthode de diagnostic prénatal non-invasive mise en oeuvre à partir d'un échantillon de sang maternel. Ladite méthode permet le diagnostic prénatal sur cellules foetales, épithéliales, non apoptotiques isolées du sang maternel après leur enrichissement par filtration, leur analyse morphologique ou immunologique et génétique. Les avantages de cette méthode sont en particulier son innocuité pour la mère ou le foetus et la très grande sensibilité et spécificité du diagnostic. Elle permet la détection précoce d'une anomalie génétique ou chromosomique du foetus, d'une pathologie génétique ou infectieuse (virale, bactérienne ou parasitaire) du foetus, d'un génotype précis, et en particulier du sexe génétique du foetus.

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