METHOD OF PRENATAL DIAGNOSTICS OF FETAL CHROMOSOMAL ANEUPLOIDY

摘要

The invention relates to a method for determining fetal chromosomal aneuploidy during analysis of a biological sample taken from a pregnant woman. Nucleic acid molecules of a biological sample are sequenced and the corresponding amounts of a clinically relevant chromosome and background chromosomes are determined. One or more threshold values are selected to determine whether there are changes when compared to the reference amount, for example, in the ratio of the amounts of two chromosomal regions.