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DETECTION OF Fetal Chromosomal Aneuploidies Using DNA Regions With Different Methylation Between Foster And The Pregnant Female
DETECTION OF Fetal Chromosomal Aneuploidies Using DNA Regions With Different Methylation Between Foster And The Pregnant Female
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机译:利用寄主和孕妇之间甲基化程度不同的DNA区域检测胎儿染色体非整倍体
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摘要
The present invention relates to methods for detecting a chromosomal aneuploidy in a foetus carried by a pregnant female. Such methods are based on one or more of particular configurations and/or detections and/or analyses of two or more regions of DNA, including those that show differential methylation between DNA that originates from cells of a foetus (and/or the placenta of a foetus) and DNA of maternal origin. Such methods utilise a sample taken from said pregnant female, which sample comprises DNA that originates from cells of a foetus and/or the placenta of a foetus in admixture with differently methylated DNA of maternal origin. Such methods have diagnostic, prognostic and/or predictive utility; in particular for the detection/diagnosis of chromosomal aneuploidy, such as a trisomy, in a foetus, and/or for detecting an increased risk of an pregnant female suffering from or developing a pregnancy-associated medical condition. The present invention also relates to compositions, kits, computer program products and other aspects that may be used in, useful for or related to the practice of such methods.
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