Methods for prenatal diagnosis of chromosomal abnormalities
US7655399B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Oct 8, 2004 |
| Grant date | Feb 2, 2010 |
| Priority date | — |
| Expiry date | Oct 8, 2024 |
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.