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Sequenom Presents Findings On Methylation Markers And RNA-SNP Markers At SMFM

Sequenom, Inc. has presented new data showing the discovery of DNA methylation markers for Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) and identification of chromosome RNA-SNP markers for early detection of Trisomies 18 and 13. The data was presented at the 29th annual meeting of the Society for Maternal-Fetal Medicine (SMFM). Mathias Ehrich, M.D., Scientific Group Leader of Sequenom, in an oral session presented at the SMFM meeting, highlighted the discovery of DNA methylation markers for prenatal aneuploidy testing. The presentation was entitled “Discovery of DNA Methylation Markers for Prenatal Aneuploidy.” The genome-wide methylation analysis identified more than 3,000 differentially methylated regions with approximately 90% confirmation; study results showed proof-of-concept for the sensitive detection of aneuploidies. The utilization of exon array to compare gene expression profiles and identify SNPs using matched placenta and maternal PBMC RNA samples were presented in a poster session at the SMFM meeting entitled “Identification of RNA-SNP Markers for Noninvasive Prenatal Diagnosis (NIPD) of T18 and T13.” All SNP candidates were then screened using 100 human diversity genomic DNA samples of various ethnicities to measure the heterozygote rate (HR) for each SNP. SNPs with an HR of 4 percent or greater were retested using placental RNA samples. Four SNPs from one C13 gene and three C18 genes were selected for assay development based on positive placental RNA results and additional SNPs within these genes will be validated to expand population coverage for T13 and T18 screening using the RNA-based method.