Patent ID: 8293470
Filing Date: 2012-10-23
Classification: C12Q,Y10T

Abstract:
1. A method for determining presence or absence of fetal aneuploidy in a maternal sample comprising fetal and maternal genomic DNA, wherein the method comprises: a) obtaining a mixture of fetal and maternal genomic DNA from a maternal tissue sample; b) distributing at least a portion of the mixture of fetal and maternal genomic DNA of step a) into a plurality of reaction samples to randomly provide i) individual reaction samples that contain a first target sequence from a first target chromosome and individual reaction samples that do not contain said first target sequence; and ii) individual reaction samples that contain a second target sequence from a second target chromosome and individual reaction samples that do not contain said second target sequence, wherein said first target chromosome is a chromosome suspected of being aneuploid in the fetus and wherein said second target chromosome is presumed to be euploid in the fetus; c) conducting digital PCR on the genomic DNA in the reaction samples of step b) to provide a first number of binary results indicating the presence or absence of said first target sequence, and a second number of binary results indicating the presence or absence of said second target sequence; and d) analyzing the binary results of step c) to quantitate said first chromosome and said second chromosome in said mixture of fetal and genomic DNA, thereby determining the presence or absence of said fetal aneuploidy.