Methods and processes for non-invasive assessment of genetic variations

• US 9,605,313 B2
• Filed: 03/01/2013
• Issued: 03/28/2017
• Est. Priority Date: 03/02/2012
• Status: Active Grant

• Current Assignee: Sequenom Incorporated (Laboratory Corporation Of America Holdings)
• Original Assignee: Sequenom Incorporated (Laboratory Corporation Of America Holdings)
• Inventors: Cantor, Charles R., DeSantis, Grace, Mueller, Reinhold, Ehrich, Mathias
• Primary Examiner(s): Wilder, Cynthia B
• Application Number:
  US13/782,901
• Publication Number:
  US 20130230858A1
• Time in Patent Office: 1,488 Days
• Field of Search: 435/91.2
• US Class Current: 1/1
• CPC Class Codes: C07K 16/18 against material from animals or humans
• CPC Class Codes: C12Q 1/6804 Nucleic acid analysis using immunogens immunoassay G01N33/53
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2522/101 Single or double stranded nucleic acid binding proteins

Abstract

Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

Claims

1. A method for enriching fetal nucleic acid in sample nucleic acid that includes fetal nucleic acid and maternal nucleic acid, comprising:

(a) obtaining cell-free circulating sample nucleic acid from a biological sample from a pregnant female; and

(b) separating some or substantially all of the fetal nucleic acid from the maternal nucleic acid by contacting the sample nucleic acid with a H1M-specific antibody or H1FOO-specific antibody, thereby generating a separation product enriched for fetal nucleic acid relative to fetal nucleic acid in the sample nucleic acid.

2. The method of claim 1, wherein the sample nucleic acid is from blood plasma.

3. The method of claim 1, wherein obtaining the sample nucleic acid comprises subjecting the biological sample to an in vitro process that isolates the sample nucleic acid from other sample components.

4. The method of claim 3, wherein the in vitro process comprises centrifugation.

5. The method of claim 1, wherein the separation product comprises about 50% or greater fetal nucleic acid.

6. The method of claim 1, further comprising sequencing the nucleic acid in the separation product using a nucleotide sequencing process, thereby generating nucleotide sequence reads.

7. The method of claim 6, further comprising detecting the presence or absence of a genetic variation according to the nucleotide sequence reads wherein the genetic variation is a chromosome aneuploidy.

8. The method of claim 7, wherein the chromosome aneuploidy is a chromosome 21 aneuploidy.