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Fetal cell analysis using sample splitting

  • US 8,168,389 B2
  • Filed: 09/02/2008
  • Issued: 05/01/2012
  • Est. Priority Date: 06/14/2006
  • Status: Active Grant
First Claim
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1. A method for performing prenatal diagnosis of a fetal aneuploidy in a blood sample from a human suspected of being pregnant, who is pregnant, or who has been pregnant, the method comprising:

  • obtaining a mixture of fetal and maternal cells from a blood sample obtained from a human suspected of being pregnant, who is pregnant, or who has been pregnant;

    enriching the mixture of cells for fetal cells to obtain a mixed cell preparation enriched for fetal cells;

    distributing the enriched mixed cell population into individual reaction samples at discrete addressable locations such that a portion of the reaction samples contain single fetal cells;

    identifying reaction samples containing a single fetal cell;

    obtaining nucleic acids from the single fetal cells;

    sequencing the nucleic acids to produce partial or complete genome sequences;

    based on the sequences, quantifying DNA regions from a chromosome suspected of being aneuploid in the fetus; and

    determining the presence or absence of a fetal aneuploidy from the quantitation of the chromosomal DNA regions.

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