METHOD FOR DETERMINING FOETAL KARYOTYPE OF PREGNANT WOMAN BASED ON SEQUENCING HYBRID READINGS CONSISTING OF SHORT FRAGMENTS OF EXTRACELLULAR DNA

摘要

FIELD: biotechnology.;SUBSTANCE: invention relates to biotechnology and describes a method for non-invasive diagnosis of foetal aneuploidy by analysing extracellular DNA from the blood of a pregnant woman by mass parallel DNA sequencing. Described method is characterized by a new method for sample preparation of extracellular DNA from blood samples. This method can be used in clinical diagnostic laboratories of medical institutions.;EFFECT: technical result of the present invention is an increase in the efficiency of the process of determining foetal aneuploidy, which is achieved by the fact that per reading of the formed DNA libraries potentially obtaining information on several different chromosomes and using this information to determine foetal aneuploidy.;4 cl, 9 dwg, 1 tbl, 1 ex