Patent ID: 6979541

Claim:
A method for identifying chromosomal aneuploidy in a biological sample, comprising the steps of: a) providing a biological sample from an embryo or a fetus containing heterozygous alleles having a single nucleotide polymorphism (SNP) and heterozygous alleles acting as a hybridization quantification internal control; b) selecting a panel of at least 3 different target SNPs each having a heterozygocity index of greater than about 30% and having loci sufficiently distributed throughout chromosome 21 to allow detection of chromosomal trisomy, partial trisomy, and chromosomal breakpoint locations; c) hybridizing target SNPs contained in the heterozygous alleles with fluorescent hybridization probes; d) measuring hybridization as a function of fluorescence and temperature; and e) quantifying hybridization as a ratio of heterozygous alleles present in the biological sample and categorizing each ratio as indicative of either trisomic or non-trisomic alleles.