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Noninvasive diagnosis of fetal aneuploidy by sequencing

  • US 10,669,585 B2
  • Filed: 06/28/2016
  • Issued: 06/02/2020
  • Est. Priority Date: 09/20/2008
  • Status: Active Grant
First Claim
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1. A method of testing for a fetal aneuploidy in a mixed sample of normally and abnormally distributed chromosome portions obtained from a subject, comprising:

  • (a) sequencing DNA from the mixed sample to obtain sequences from multiple chromosome portions, wherein said sequences comprise a number of sequence tags of about 20-100 bp, to be assigned to a chromosome location within a genome;

    (b) aligning the sequence tags to corresponding chromosome portions including at least the specified chromosome;

    (c) counting a number of sequence tags mapping to chromosome portions by counting sequence tags within a number of windows of defined length within chromosome portions presumed to be normally distributed to obtain a first value and within chromosome portions that are possibly abnormally distributed to obtain a second value therefrom; and

    (d) using the values from step (c) to calculate a differential between the first value and the second value, wherein a statistically significant differential as determined by a t-test and as represented by a t statistic outside −

    3.09 to 3.09 indicates that an abnormal distribution of a specified chromosome portion exists, thereby identifying a fetal aneuploidy.

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