×

Rare cell analysis using sample splitting and DNA tags

  • US 8,372,584 B2
  • Filed: 06/14/2007
  • Issued: 02/12/2013
  • Est. Priority Date: 06/14/2006
  • Status: Active Grant
First Claim
Patent Images

1. A method of determining a presence or absence of a fetal aneuploidy in a fetus by analysis of a maternal blood sample obtained from a pregnant woman comprising a mixture of fetal and maternal cells, the method comprising:

  • (a) enriching a mixture of fetal and maternal cells of a maternal blood sample for fetal cells to obtain a mixed cell preparation enriched for fetal cells;

    (b) splitting the mixed cell preparation of step (a) into at least 100 discrete portions and directing the discrete portions to different locations;

    (c) identifying at least one location that contains a single fetal cell and obtaining genomic DNA from the single fetal cell at the at least one identified location;

    (d) amplifying fetal genomic DNA obtained from the single fetal cell at the at least one identified location;

    (e) sequencing the fetal genomic DNA of step (d) to generate sequence data; and

    (f) determining the presence or absence of a fetal aneuploidy from the sequence data of step (e), wherein said determining comprises analyzing the sequence data using computer executable logic recorded on a computer readable medium.

View all claims
  • 17 Assignments
Timeline View
Assignment View
    ×
    ×