METHOD FOR IDENTIFYING FETAL ANEUPLOIDY IN A BLOOD SAMPLE OF THE PREGNANT WOMAN Russian patent published in 2022 - IPC G01N33/48 

FIELD: medicine.

SUBSTANCE: invention relates to the field of medicine, namely, to non-invasive prenatal diagnosis of fetal aneuploidies by extracellular DNA of the mother's blood, and can be used to identify genetic fetal anomalies, aneuploidies, including monosomies and trisomies, during the first trimester of pregnancy by non-invasive methods, safe both for the child and for the mother. Method for prenatal diagnosis of aneuploidies by fetal cfDNA in the blood of the mother includes preparing genomic libraries, determining the nucleotide sequence of fragments of the genomic library, consisting in conducting digital analysis of the cfDNA by sequencing. The resulting short reads of the DNA sequences undergo statistical analysis including the stage of removing PCR duplicates, followed by determining the probabilities of belonging of the studied sample to the group with fetal euploidy and to the group with fetal aneuploidy. The method includes an improved stage associated with the selection of target genomic regions from candidate regions and a stage related to the analysis of the studied sample of the cfDNA of the pregnant woman simultaneously with the analysis of the cfDNA samples of other pregnant women, providing a possibility of correcting the systematic deviations in the laboratory preparation of the studied cfDNA samples and thereby increasing the accuracy of diagnosis of fetal aneuploidy.

EFFECT: possibility of increasing the accuracy of diagnosis of fetal aneuploidy by non-invasive prenatal diagnosis.

7 cl, 2 tbl, 2 ex