Prenatal diagnosis using cell-free fetal dna in amniotic fluid

Details Prenatal diagnosis using cell-free fetal dna in amniotic fluid Prenatal diagnosis using cell-free fetal dna in amniotic fluid

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2544178

The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include the analysis by array-based hybridization of cell-free fetal DNA isolated from amniotic fluid. In addition to allowing the prenatal diagnosis of a variety of diseases and conditions, and the assessment of fetal characteristics such as fetal sex and chromosomal abnormalities, the new inventive methods provide substantially more information about the fetal genome in less time than it takes to perform a conventional metaphase karyotype analysis. In particular, the enhanced molecular karyotype methods provided by the present invention allow the detection of chromosomal aberrations that are not often detected prenatally such as microdeletions, microduplications and subtelomeric rearrangements.

L'invention concerne des procédés améliorés de diagnostic, de surveillance et/ou de dépistage prénatals. Les procédés selon l'invention comprennent l'analyse par hybridation basée sur un jeu ordonné d'échantillons d'ADN foetal acellulaire isolé du liquide amniotique. En outre, pour permettre le diagnostic prénatal de divers états et maladies ainsi que l'établissement de caractéristiques foetales, comme le sexe et des anomalies chromosomiques du foetus, les nouveaux procédés selon l'invention fournissent considérablement plus d'informations sur le génome foetal en moins de temps qu'il ne faut pour établir un caryotypage métaphasique conventionnel. Les procédés de caryotypage moléculaire améliorés selon l'invention permettent notamment de détecter des anomalies chromosomiques qui ne sont souvent pas détectées prénatalement, comme les microdélétions, les microduplications et les réarrangements subtélomériques.

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