| abstract |
The present invention relates to na method for determining the presence or absence of a chromosome aneuploidy, microduplication, e.g. CNV, or microdeletion in a fetus or in a subject, optionally suffering from cancer, comprising: n n(a) normalizing counts of nucleotide sequence reads mapped to portions of a reference genome, which sequence reads are 1) reads of circulating cell-free nucleic acid from a test sample from a pregnant female bearing a fetus and 2) reads from nucleic acid fragments having lengths less than or equal to a selected fragment length, thereby providing normalized counts; and n(b) determining the presence or absence of a chromosome aneuploidy, microduplication or microdeletion according to the normalized counts. |