METHOD, SYSTEM, AND COMPUTER READABLE MEDIUM FOR DETERMINING WHETHER FETUS HAS ABNORMAL NUMBER OF SEX CHROMOSOMES

摘要

Provided are a method, a system, and a computer readable medium for determining whether a fetus has an abnormal number of sex chromosomes. The method for determining whether a fetus has an abnormal number of sex chromosomes comprises: performing nucleic acid sequencing on a sample of a pregnant woman comprising fetal nucleotide acids, to obtain multiple pieces of sequencing data; comparing the sequencing data with a reference genomic sequence of humans, to obtain a comparison sequencing data set; determining the number Q of pieces of comparison sequencing data comprised in the comparison sequencing data set; determining the number Ni of pieces of sequencing data, deriving from an ith chromosome, in the comparison sequencing data set, i representing a number of a chromosome, and the ith chromosome at least comprising a Y chromosome and any X chromosome; determining a gender of a fetus based on the number Ny of pieces of sequencing data deriving from the Y chromosome; and determining whether the fetus has an abnormal number of sex chromosomes.