Non-invasive fetal genetic screening by digital analysis

CAFC
  • US 7,888,017 B2
  • Filed: 02/02/2007
  • Issued: 02/15/2011
  • Est. Priority Date: 02/02/2006
  • Status: Active Grant
First Claim
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1. A method of determining a fetal aneuploidy by determining the number of copies of maternal and fetal target chromosomes, having target sequences in a mixture of maternal and fetal genetic material, comprising the steps of:

  • a) obtaining maternal tissue containing both maternal and fetal genetic material;

    b) obtaining a mixture of maternal and fetal genetic material from said maternal tissue;

    c) distributing the genetic material obtained in step b) into a plurality of reaction samples, to randomly provide individual reaction samples that contain a target sequence from a target chromosome and individual reaction samples that do not contain a target sequence from a target chromosome;

    d) 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 in the reaction samples and a second number of binary results representing presence or absence of a presumably aneuploid fetal chromosome in the reaction samples,e) determining the presence or absence of a fetal aneuploidy by comparing said first number of step (d) with said second number of step (d), wherein a differential between the first number and the second number indicates the presence of a fetal aneuploidy.

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