Patent ID: 7901884
Filing Date: 2011-03-08
Classification: C12Q

Abstract:
1. A method for detecting trisomy 21 in a fetus carried by a pregnant woman, comprising the steps of: (a) obtaining a biological sample from the woman, wherein the sample is whole blood, serum, or plasma; (b) determining the methylation status of a CpG-containing genomic sequence in the sample, wherein the genomic sequence from the fetus and the genomic sequence from the woman are differentially methylated, thereby distinguishing the genomic sequence from the woman and the genomic sequence from the fetus in the sample, wherein the genomic sequence is at least 15 nucleotides in length, comprising at least one cytosine, and is within genomic locus Holocarboxylase Synthetase (HLCS) on chromosome 21; (c) determining the amount of the methylated genomic sequence from the fetus; and (d) comparing the amount of the methylated genomic sequence from the fetus with a standard control, wherein an increase from the standard control indicates the presence of trisomy 21.