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Epigenetic Biomarkers for the Minimally Invasive Diagnosis of Fetal Genetic Disease

详细技术说明

None

*Abstract

The inventors describe the use of a novel microarray-based approach for the high-throughput discovery of epigenetic biomarkers for use in the minimally invasive detection of fetal genetic disease. It involves a combination 215,060-probe custom oligonucleotide microarray,a novel library preparation method and novel statistical tools to compare DNA methylation patterns in a panel of choronic villus samples (CVS) with a panel of gestational age-matched maternal blood cell (MBC) samples. To enrich the results for biomarkers that have diagnostic utility for common human aneuploidies the custommicroarray was designed to provide high-resolution coverage across human chromosomes 13, 18 and 21. This is the first high-resolution analysis of DNA methylation patterns in the human placenta during the first trimester of pregnancy and the first study that employs and unbiased approach to epigenetic biomarker discovery for fetal genetic disease on chromosomes 13, 18 and 21.Application1) Identify potential biomarkers for the diagnosis of fetal genetic diseaseAdvantages1) Minimally invasive2) Less risky than amniocentesisProvisional Patent Application filed

*Principal Investigation

Name: David Peters, Assistant Professor

Department: Med-OB-Gyn & Reproductive Science

国家/地区

美国