METHOD NONINVASIVE prenatal diagnosis of aneuploidy FETUS

摘要

1. A method for non-invasive prenatal diagnosis of fetal aneuploidy, comprising: a. isolation of extracellular DNA from blood sample obtained from a pregnant woman; b. preparing genomic libraries using the selected at step a) Extracellular DNA; c. enriching the genomic library of DNA fragments from a set of regions of the genome characterized by chromatin opening between the placenta and the maternal blood cells, characterized by at least 20%; d. determining the nucleotide sequence (sequencing) of the obtained genomic library; e. mapping the obtained readings to the reference genome, or part of the genome - a person to determine their origin; f. determining coverage values ​​for each region of the genome of the set; g. correction value obtained coating for each region of the genome of a set of the total coverage of the genome, and comparing the corrected value of the coating with coatings values ​​or distributions obtained for the training sample of blood samples of pregnant women with euploidii and aneuploidy fetus and determining the affiliation of the test specimen to one of the data groups on which concludes that there is aneuploidy ploda.2. The method of claim. 1, characterized in that the selection of regions of the genome to enrich the genomic library is performed from a database of candidate genomic region covers the blood samples of pregnant women with euploidiey and wherein aneuploidy is calculated importance coating differences between samples with and eu- aneuploidy for each a candidate region, characterized by the p-value a value adjusted for the total coating sample, and is selected from the candidate D