Detection of foetal chromosomal aneuploidies using DNA regions that are differentially methylated between the foetus and the pregnant female

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 a 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.