METHOD FOR NON-INVASIVE PRENATAL DIAGNOSTICS OF FETAL CHROMOSOMAL ANEUPLOIDY FROM MATERNAL BLOOD Russian patent published in 2021 - IPC C12Q1/68 

FIELD: biotechnology.

SUBSTANCE: invention relates to biotechnology. Disclosed is a method for screening of aneuploidies. The method comprises four main stages: 1) obtaining and treating samples of maternal blood, 2) obtaining a DNA sample and a DNA library, 3) sequencing and 4) processing the sequence data to obtain a value that has a predictive significance. The essential part of the method is preparation and processing of verification data, i.e. processing of the set of euploid samples that are processed in the same way as test samples. The result obtained when processing verification samples serves as reference data at the stage 4). The present invention provides alternative and reliable method that is applicable at least to the practice of non-invasive prenatal screening for aneuploidiesm such as trisomies ore monosomies, preferably for trisomy of chromosome 13, 18 or 21.

EFFECT: due to novel and inventive approach this method provides an alternative z-score method that enables better distinction between euploid and aneuploid samples, i.e. improves reliability of the test; besides, the method requires relatively low amount of sequencing data and therefore such a method is relatively cheap and would be affordable even for small healthcare institutions.

10 cl, 4 tbl, 3 ex, 2 dwg