METHOD FOR NON-INVASIVE PRENATAL DIAGNOSTICS OF TRISOMY AND A SET FOR IT Russian patent published in 2020 - IPC C12Q1/68 

FIELD: biotechnology.

SUBSTANCE: invention refers to biotechnology, particularly to clinical-laboratory diagnostics in the field of prenatal non-invasive diagnostics, and can be used for detection of trisomy on 21st chromosome in the early pregnancy (starting from 8th obstetric week of gestation).

EFFECT: technical result of the proposed method is non-invasive diagnosis of trisomy on 21st chromosome of the fetus, having high sensitivity (possibility of quantitative analysis at low concentrations of fetal DNA, starting from 6th week – not less than 0_7 copies/mcl); absence of risk of pregnancy termination due to absence of invasive contact with fetal tissues; simple application and interpretation of results in clinical diagnostic laboratories due to the absence of need for bioinformatic analysis; self-monitoring system both at the ssDNA restriction step, and at the stage of direct comparison of levels of 21st and the reference chromosomes.

5 cl, 9 dwg, 3 tbl, 2 ex