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DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING MASSIVELY PARALLEL GENOMIC SEQUENCING

  • US 20090029377A1
  • Filed: 07/23/2008
  • Published: 01/29/2009
  • Est. Priority Date: 07/23/2007
  • Status: Active Grant
First Claim
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1. A method for performing prenatal diagnosis of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant female subject, wherein the biological sample includes nucleic acid molecules, the method comprising:

  • receiving the biological sample;

    sequencing at least a portion of a plurality of the nucleic acid molecules contained in the biological sample, wherein the sequenced portion represents a fraction of the human genome;

    based on the sequencing;

    determining a first amount of a first chromosome from sequences identified as originating from the first chromosome;

    determining a second amount of one or more second chromosomes from sequences identified as originating from one of the second chromosomes;

    determining a parameter from the first amount and the second amount;

    comparing the parameter to one or more cutoff values; and

    based on the comparison, determining a classification of whether a fetal chromosomal aneuploidy exists for the first chromosome.

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