Patent Document ID: 10017812
Application ID: 13300235
Patent Flag: 1

Claim One:
1. A method of detecting a trisomy of at least one chromosome or chromosome segment of interest in the genome of a fetus, the method comprising: performing a multiplex amplification to amplify at least 1,000 polymorphic loci from free floating maternal and fetal DNA in a maternal blood, plasma, or serum sample using a plurality of primers in one reaction mixture to obtain amplified products, wherein the polymorphic loci comprise single nucleotide polymorphisms (SNPs); obtaining genetic data from amplified products; generating a set of one or more hypotheses specifying the number of copies of one or more of the chromosomes or chromosome segments of interest present in the genome of the fetus; wherein one of the hypotheses specifies that one or more of the chromosomes or chromosome segments of interest are trisomic; calculating expected genetic data of the fetus for each of the hypotheses; determining the probability of the hypotheses according to a data fit between the obtained genetic data of the fetus and the expected genetic data of the fetus using a technique selected from the group consisting of maximum a- posteriori estimation and maximum likelihood estimation; wherein the probability of the hypothesis is determined without genetic data from a reference chromosome; and outputting the hypothesis with the greatest probability as an indication that there is a trisomy in the genome of the fetus.