Patent · US Active

Methods for prenatal diagnosis of chromosomal abnormalities

US7785798B2 · kind B2 · utility

58Cited by
10References
7Claims
0Family size

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Key dates

Filing dateSep 3, 2009
Grant dateAug 31, 2010
Priority date—
Expiry dateSep 3, 2029

Classification

  • Technology area (CPC C)Chemistry; Metallurgy
  • CPC primaryC12Q2600/166
  • WIPO fieldBiotechnology
  • WIPO sectorChemistry

Abstract

Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.