Patent Document ID: 10174369
Application ID: 15917383
Patent Flag: 1

Claim One:
1. A method for determining the probability of trisomy of a chromosome or chromosome segment of interest in the genome of a fetus, the method comprising: performing a multiplex amplification for at least 1000 loci in a single reaction, wherein the reaction comprises cell free DNA derived from maternal blood, maternal serum, or maternal plasma, and wherein the amplification comprises ligating oligonucleotides that hybridize to target sequences and amplifying the ligated oligonucleotides using PCR; performing microarray analysis to measure a quantity of DNA for each locus at a plurality of amplified loci on the chromosome or chromosome segment of interest; performing microarray analysis to measure a quantity of DNA for each allele at a plurality of amplified SNP loci on one or more chromosomes or chromosome segments expected to be disomic in the mother and the fetus, where the SNP loci comprise an allele present in the fetus but not the mother; estimating an amount of fetal DNA in the maternal blood, maternal serum, or maternal plasma using the quantity of each allele at the SNP loci and an expected quantity of each allele at the SNP loci for different fetal fractions; and determining the probability of trisomy of the chromosome or chromosome segment of interest using the quantity of the amplified DNA at the plurality of loci on the chromosome or chromosome segment of interest and the amount of fetal DNA in the maternal blood, maternal serum, or maternal plasma.