Abstract: The current invention is directed to methods for noninvasive detection of fetal genetic abnormalities by large-scale sequencing of nucleotides from maternal biological sample. Further provided are methods to remove GC bias from the sequencing results according to the difference in GC content of a chromosome. The current invention not only makes the detection much more accurate but also represents a comprehensive method for fetal aneuploidy detection including sex chromosome disorders such as XO, XXX, XXY, and XYY, etc.

Abstract: Disclosed is a method for determining the chromosome aneuploidy of a single cell and a system for determining the chromosome aneuploidy of a single cell. Among them, the method for determining the chromosome aneuploidy of a single cell according to the embodiments of the present invention comprises: the whole genome of the single cell is sequenced to obtain a first sequencing result; the total number of sequencing data from the first sequencing result is counted, obtaining a value L; the number of sequencing data of a first chromosome from the first sequencing result is counted, obtaining a value M; a first parameter is determined based on the value L and the value M; and it is determined whether or not the single cell has aneuploidy in respect of the first chromosome based on the difference between the first parameter and a predetermined control parameter.