NON-INVASIVE DETECTION OF GENETIC FOETAL ABNORMALITY

摘要

FIELD: medicine.;SUBSTANCE: invention discloses method, computer-readable medium and system for determination of genetic foetal anomaly, which is aneuploidy. Peripheral blood of pregnant woman is obtained sequence of multiple polynucleotide fragments are matched with chromosomes by comparing with reference genomic sequence of human, depth of coating and GC content chromosomes and chromosome coating depth is compared with approximated depth coating, where difference between them indicates aneuploidy.;EFFECT: presented group of inventions provides effective agents and methods for non-invasive detection of foetal aneuploidy.;13 cl, 21 dwg, 1 tbl, 1 ex