FIELD: medicine.
SUBSTANCE: method for non-invasive prenatal diagnosis of fetal aneuploidy is proposed, which includes extraction of extracellular DNA (ecDNA) from a blood sample of a pregnant woman, selection of genome regions for amplification, preparation of genomic libraries, mapping of the resulting sequences to a reference genome or part of the human genome with coordinates determination, determination of the coverage value for each genome region, characterized by the openness of chromatin between the placenta and mother's blood cells, differing not less than 20%, and obtaining genome regions with the indicated openness of chromatin, after which a conclusion is made about the presence of fetal aneuploidy. A method is proposed to obtain genome regions for carrying out the above noninvasive prenatal diagnosis of fetal aneuploidy.
EFFECT: simple and economical way of prenatal diagnosis of fetal aneuploidy in the early stages of pregnancy.
7 cl, 3 dwg, 3 tbl, 5 ex
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