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Direct Molecular Diagnosis of Fetal Aneuploidy

  • US 20110151442A1
  • Filed: 12/22/2009
  • Published: 06/23/2011
  • Est. Priority Date: 12/22/2009
  • Status: Active Grant
First Claim
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1. A method for detecting a fetal chromosomal aneuploidy of a target chromosome, comprising the steps of:

  • (a) obtaining a fetal sample containing genomic DNA including a target chromosome sequence and a reference chromosome sequence;

    (b) distributing said fetal sample into a plurality of reaction areas, each reaction area containing on average not more than one target chromosome sequence and not more than one reference chromosome sequence;

    (c) detecting whether said target chromosome sequence is present in said plurality of reaction areas, said detecting comprising the step of detecting an invariant sequence, to produce a target count;

    (d) detecting whether said reference chromosome sequence is present in said plurality of reaction areas, said detecting comprising the step of detecting an invariant sequence, to produce a reference count;

    (e) obtaining sufficient numbers in said target count and said reference count to achieve statistical significance; and

    (f) comparing said target count to said reference count, whereby an abnormal difference between said target count and said reference count indicates fetal chromosomal aneuploidy in the target chromosome.

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