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Direct molecular diagnosis of fetal aneuploidy

  • US 9,719,140 B2
  • Filed: 11/04/2013
  • Issued: 08/01/2017
  • Est. Priority Date: 12/22/2009
  • Status: Active Grant
First Claim
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1. A method for detecting an abnormal copy number of a target fetal chromosome, comprising the steps of:

  • (a) obtaining a fetal sample containing genomic DNA including a target chromosome sequence and a reference chromosome sequence, said fetal sample being at least one of amniotic fluid, uncultured amniocytes and chorionic villus tissue;

    (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 each of said plurality of reaction areas by;

    (1) using primers to amplify a first ultraconserved element unique to said target chromosome sequence;

    (2) binding a first detection probe to said amplified first ultraconserved element; and

    (3) counting the number of reaction areas containing a bound first detection probe, to produce a target count;

    (d) detecting whether said reference chromosome sequence is present in each of said plurality of reaction areas by;

    (1) using primers to amplify a second ultraconserved element unique to said reference chromosome sequence;

    (2) binding a second detection probe to said amplified second ultraconserved element; and

    (3) counting the number of reaction areas containing a bound second detection probe, to produce a reference count; and

    (e) obtaining sufficient numbers in said target count and said reference count to achieve statistical significance, wherein a statistically significant difference between said target count and said reference count indicates an abnormal number of the target fetal chromosome.

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