Patent ID: 9181586
Filing Date: 2015-11-10
Classification: C12Q,Y10T

Abstract:
1. A method for determining whether a fetus has a trisomy, said method comprising: obtaining fetal and maternal cell-free DNA from maternal blood; using a computer implementation of a mathematical algorithm, designing primers to amplify target sequences comprising tandem SNPs on selected chromosomes in the fetal and maternal cell-free DNA; using the designed primers, amplifying the target sequences comprising tandem SNPs to produce amplicons from the cell-free DNA from maternal blood; sequencing the amplicons using high-throughput sequencing; identifying the tandem SNPs by comparing the sequenced amplicons to a reference sequence; determining heterozygosity of the tandem SNPs for each of the selected chromosomes; identifying target sequences exhibiting three haploytpes of at least one tandem SNP, wherein at least one of said haplotypes is not present in the maternal DNA; comparing the three haplotypes by determining the relative copy number of each of the haplotypes; and determining that the fetus has a trisomy based on the relative copy number of the three haplotypes.