Patent ID: 8962247
Filing Date: 2015-02-24
Classification: C12Q

Abstract:
1. A method for determining the presence or absence of a fetal aneuploidy, comprising: a) contacting nucleic acid from a pregnant female, which nucleic acid comprises fetal nucleic acid and maternal nucleic acid, with a methylation sensitive restriction enzyme that digests the maternal nucleic acid at a plurality of loci, wherein the plurality of loci comprises loci that are hypermethylated in fetal nucleic acid, thereby enriching the fetal nucleic acid; b) amplifying the loci, or portion thereof, not digested in (a) in an amplification reaction, thereby generating amplification products; c) sequencing the amplification products of (b), thereby generating sequencing products; d)determining from the sequencing products of (c) the amount of fetal nucleic acid for a plurality of loci of a target chromosome comprising a locus comprising SEQ ID NO: 211; e) determining the amount of fetal nucleic acid from a reference chromosome; and f) comparing the amount of fetal nucleic acid for the plurality of loci of the target chromosome to the amount of fetal nucleic acid for the reference chromosome, whereby a statistically significant difference between the amount of fetal nucleic acid for the plurality of loci of the target chromosome and the amount of fetal nucleic acid for the reference chromosome determines the presence of a fetal aneuploidy.