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Noninvasive diagnosis of fetal aneuploidy by sequencing

  • US 9,353,414 B2
  • Filed: 01/30/2014
  • Issued: 05/31/2016
  • Est. Priority Date: 09/20/2008
  • Status: Active Grant
First Claim
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1. A method of determining the presence or absence of a fetal chromosomal abnormality in a maternal serum or plasma sample comprising a mixture of fetal and maternal DNA, comprising the steps of:

  • a) obtaining maternal and fetal DNA from said sample;

    b) sequencing a plurality of specific predefined subchromosomal sequences of the maternal and fetal DNA from step a) to obtain a plurality of sequence tags aligning to the subchromosomal sequences, wherein said subchromosomal sequences are from a first chromosome being tested for the fetal chromosomal abnormality and from at least one second chromosome that is euploid, said at least one second chromosome being different than from said first chromosome; and

    wherein said plurality of subchromosomal sequences cover only a portion of said first chromosome and only a portion of said at least one second chromosome;

    c) assigning the plurality of sequence tags to their corresponding predefined subchromosomal sequences;

    d) determining a number of sequence tags aligning to the predefined subchromosomal sequences of said first chromosome and a number of sequence tags aligning to the predefined subchromosomal sequences of said at least one second chromosome while accounting for variations in G/C content of the preselected subchromosomal sequences; and

    e) comparing the numbers from step d) to determine the presence of absence of said fetal chromosomal abnormality.

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