NONINVASIVE DIAGNOSTIC DNA TEST FOR ANEUPLOIDY DETECTION Russian patent published in 2017 - IPC C12Q1/68 

FIELD: medicine.

SUBSTANCE: method for detection of fetal chromosomal aneuploidy in a pregnant woman is proposed. The method includes reception of a free floating DNA from a biological sample, amplification of the selected set of target DNA sequences in quantitative multiplex PCR, where the amplified nucleotide DNA sequence contains SNP, according to which the woman is heterozygous, sequencing of amplified target DNA sequences, and calculation of the total number of reads for all amplified sequences belonging to a potentially aneuploid DNA chromosome, quantity rationing based on the aggregate number of reads for all amplified DNA sequences of the reference euploid chromosome for definition using the Z-parameter statistical analysis and/or determination of the relationship of informative SNP alleles. At that, the Z-index and the disturbed ratio of alleles allow to judge the presence of chromosomal aneuploidy in the fetus.

EFFECT: shortened time of result obtaining, a possibility of detection of the presence of aneuploidy at earlier stages of pregnancy, and in samples containing a lower percentage of fetal DNA.

10 cl, 6 dwg, 1 tbl, 2 ex