http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-1689884-A2

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assignee http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_11d05e40924c78e685d633fda269401b
classificationCPCAdditional http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-154
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classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6827
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filingDate 2004-10-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3f1da29adb5ac3065651f7d719a6ff36
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b793063094ea30045f129b093a4583b1
publicationDate 2006-08-16-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-1689884-A2
titleOfInvention Methods for prenatal diagnosis of chromosomal abnormalities
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.
priorityDate 2003-10-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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