Patent ID: 8825412
Filing Date: 2014-09-02
Classification: C12Q,G16B,G16H

Abstract:
1. A method of determining a fetal aneuploidy by determining the number of copies of a target chromosome or chromosome segment, having target sequences in a mixture of maternal and fetal genetic material, comprising the steps of: distributing a mixture of maternal and fetal genetic material into a plurality of reaction samples, to randomly provide individual reaction samples that contain a target sequence from a target chromosome or chromosome segment and individual reaction samples that do not contain a target sequence from a target chromosome or chromosome segment; analyzing the target sequences of genetic material present or absent in said individual reaction samples to provide a first number of binary results representing presence or absence of a presumably euploid fetal chromosome or chromosome segment in the reaction samples and a second number of binary results representing presence or absence of a possibly aneuploid fetal chromosome or chromosome segment in the reaction samples; calculating an expected distribution of a number of binary results for a presumably euploid fetal chromosome or chromosome segment in the reaction samples using the first number; calculating an expected distribution of a number of binary results for a presumably aneuploid fetal chromosome or chromosome segment in the reaction samples using the first number and an estimated fraction of fetal DNA found in the mixture of maternal and fetal genetic material; and using a maximum likelihood approach to determine whether the second number indicates the presence of a fetal aneuploidy.