http://rdf.ncbi.nlm.nih.gov/pubchem/patent/ES-2623156-T3

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filingDate 2011-01-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2017-07-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_62221bfbdaa0c079a915e5b4b2c89911
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_46a312838368da29e6bd8d8d3599eee0
publicationDate 2017-07-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber ES-2623156-T3
titleOfInvention Methods and compositions for the non-invasive prenatal diagnosis of fetal aneuploidies
abstract A method for prenatal diagnosis of trisomy 21 using a maternal blood sample, the method comprising: a) enriching for methylated DNA in a maternal blood sample containing a mixture of fetal and maternal DNA by methylation DNA immunoprecipitation (MeDIP ) to obtain a sample enriched for methylated DNA; b) determining the level of methylation of the chromosomal DNA regions shown in SEQ ID NO: 36, SEQ ID NO: 37, SEQ ID NO: 38, SEQ ID NO: 39, SEQ ID NO: 40, SEQ ID NO: 42, SEQ ID NO: 43 and SEQ ID NO: 44; c) comparing the methylation value of the regions of step (b) with a standardized reference methylation value for said regions, wherein the standardized reference methylation value is (i) a value for a DNA sample of a woman carrying a fetus without trisomy 21; or (ii) a value for a DNA sample from a woman carrying a fetus with trisomy 21; d) diagnosing trisomy 21 based on said comparison, wherein trisomy 21 is diagnosed if the methylation value of the sample is (i) greater than the standardized reference methylation value of a woman carrying a fetus without trisomy 21 ; or (ii) comparable to the standardized reference methylation value of a woman carrying a fetus with trisomy 21.
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