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Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing

  • US 8,972,202 B2
  • Filed: 07/18/2014
  • Issued: 03/03/2015
  • Est. Priority Date: 07/23/2007
  • Status: Active Grant
First Claim
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1. A method for determining the presence or absence of fetal aneuploidy from a plasma or serum sample from a pregnant female subject, wherein the sample comprises cell-free nucleic acid molecules from the genome of both the female subject and a fetus, comprising:

  • (a) performing random massively parallel DNA sequencing on at least a portion of the cell-free nucleic acid molecules to generate random sequenced tags;

    (b) aligning at least a portion of the sequenced tags obtained in step (a) to a reference genome;

    (c) using alignment data obtained in step (b) to determine a first amount of sequenced tags originating from a first chromosome and a second amount of sequenced tags originating from at least one second chromosome;

    (d) determining a parameter based on the first amount and second amount, wherein the parameter is a frequency of sequenced tags originating from the first chromosome that is normalized based on the relative size of the first chromosome; and

    (e) comparing the parameter to a cutoff value to determine whether a fetal chromosomal aneuploidy exists for the first chromosome.

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