Patent Document ID: 9228234
Application ID: 14080656
Patent Status: 1

Claim One:
1. A method for determining the number of copies of a chromosome or chromosome segment of interest in the genome of a gestating fetus, the method comprising: measuring genetic data at a plurality of loci on at least one chromosome that is expected to be disomic in both the mother and the fetus in a mixed sample of DNA comprising fetal DNA and maternal DNA; determining a ratio of fetal to maternal DNA in the mixed sample from the measured genetic data at the plurality of loci on the at least one chromosome that is expected to be disomic in both the mother and the fetus; measuring genetic data at a plurality of loci on a chromosome or chromosome segment of interest in the mixed sample of DNA; creating one or more hypotheses specifying the number of copies of the chromosome or chromosome segment of interest in the genome of the fetus; determining, on a computer, the probability of each of the hypotheses using the measured genetic data for the chromosome or chromosome segment of interest and the ratio of fetal to maternal DNA; and selecting the hypothesis with the greatest probability, thereby determining the number of copies of the chromosome or chromosome segment of interest in the genome of the fetus.