DIAGNOSIS OF FETAL ABNORMALITIES USING POLYMORPHISMS INCLUDING SHORT TANDEM REPEATS

• US 20090280492A1
• Filed: 03/27/2009
• Published: 11/12/2009
• Est. Priority Date: 06/14/2006
• Status: Abandoned Application

• Current Assignee: Barb Ariel Cohen, Ravi Kapoor, Roland Stoughton
• Original Assignee: Barb Ariel Cohen, Ravi Kapoor, Roland Stoughton
• Inventors: Stoughton, Roland, Cohen, Barb Ariel, Kapur, Ravi
• Application Number:
  US12/413,485
• Publication Number:
  US 20090280492A1
• Time in Patent Office: Days
• US Class Current: 435/6
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: C12Q 2600/158 Expression markers
• CPC Class Codes: C12Q 2600/16 Primer sets for multiplex assays
• CPC Class Codes: G01N 1/30 Staining; Impregnating ; Fixation; Dehydration; Multistep processes for preparing samples of tissue, cell or nucleic acid material and the like for analysis
• CPC Class Codes: G16B 20/00 ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
• CPC Class Codes: G16B 20/10 Ploidy or copy number detection
• CPC Class Codes: G16B 20/20 Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection

Abstract

The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, i.e. aneuploidy. In addition, the present invention provides methods to determine when there are insufficient fetal cells for a determination and report a non-informative case. The present invention involves quantifying regions of genomic DNA from a mixed sample. More particularly the invention involves quantifying DNA polymorphisms from the mixed sample.

Claims

1. A method for diagnosing a fetal abnormality comprising:

obtaining a maternal blood sample,

enriching one or more fetal cells from said sample using size-based separation,

analyzing one or more regions of genomic DNA from said fetal cells for STRs, and

determining a fetal abnormality based on the STR analysis.