Determination of fetal aneuploidies by massively parallel DNA sequencing

CAFC
  • US 8,008,018 B2
  • Filed: 02/26/2009
  • Issued: 08/30/2011
  • Est. Priority Date: 02/02/2006
  • Status: Active Grant
First Claim
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1. A method for determining presence or absence of fetal aneuploidy in a maternal tissue sample comprising fetal and maternal genomic DNA, wherein the method comprises:

  • a. obtaining a mixture of fetal and maternal genomic DNA from said maternal tissue sample;

    b. conducting massively parallel DNA sequencing of DNA fragments randomly selected from the mixture of fetal and maternal genomic DNA of step a) to determine the sequence of said DNA fragments;

    c. identifying chromosomes to which the sequences obtained in step b) belong;

    d. using the data of step c) to compare an amount of at least one first chromosome in said mixture of maternal and fetal genomic DNA to an amount of at least one second chromosome in said mixture of maternal and fetal genomic DNA, wherein said at least one first chromosome is presumed to be euploid in the fetus, wherein said at least one second chromosome is suspected to be aneuploid in the fetus, thereby determining the presence or absence of said fetal aneuploidy.

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