Patent ID: 9652585
Date: 2017-05-16
CPC Classifications: C12Q,G16B

Claim:
1. A method for screening a preimplantation human embryo for implantation, the method comprising: a) labeling a first sample genomic DNA from a first test sample obtained from a preimplantation human embryo, or an amplification product thereof, thereby forming a labeled first test DNA, the preimplantation human embryo having been generated by in-vitro fertilization, the first sample genomic DNA comprising DNA sequences from a plurality of different human chromosomes, said first sample genomic DNA or said amplification product thereof being labeled by attaching labels that are capable of producing detectable signals to a plurality of different DNA sequences from one or more human chromosomes in the first sample genomic DNA; b) hybridizing the labeled first test DNA to a first hybridization array that is configured to hybridize to a plurality of different DNA sequences from X and Y chromosomes and a specific human chromosome at different respective predefined locations of the first hybridization array; c) labeling a first reference genomic DNA from a first reference sample obtained from a male human having two copies of the specific human chromosome, or an amplification product thereof, thereby forming a labeled first reference DNA, said first reference genomic DNA or said amplification product thereof being labeled by attaching the labels to a plurality of different DNA sequences from one or more human chromosomes in the first reference genomic DNA; d) hybridizing the labeled first reference DNA to a second hybridization array that is identical to the first hybridization array and that is configured to enable a copy number estimate of the number of copies of the specific human chromosome in the first sample genomic DNA based on a comparison of scanning results from scanning the different respective predefined locations of the first hybridization array to scanning results from scanning the corresponding different respective predefined locations of the second hybridization array; e) labeling a second reference genomic DNA from a second reference sample obtained from a female human having two copies of the specific human chromosome, or an amplification product thereof, thereby forming a labeled second reference DNA, said second reference genomic DNA or said amplification product thereof being labeled by attaching the labels to a plurality of different DNA sequences from one or more human chromosomes in the second reference genomic DNA; f) hybridizing the labeled second reference DNA to a third hybridization array that is identical to the first hybridization array and that is configured to enable a copy number estimate of the number of copies of the specific human chromosome in the first sample genomic DNA based on a comparison of scanning results from scanning the different respective predefined locations of the first hybridization array to scanning results from scanning the corresponding different respective predefined locations of the third hybridization array; g) scanning the first hybridization array after the hybridization of the labeled first test DNA to the first hybridization array and determining signal intensities produced by the hybridization of the labeled first test DNA to the first hybridization array at the different respective predefined locations of the first hybridization array; h) scanning the second hybridization array after the hybridization of the labeled first reference DNA to the second hybridization array and determining signal intensities produced by the hybridization of the labeled first reference DNA to the second hybridization array at the corresponding different respective predefined locations of the second hybridization array; i) scanning the third hybridization array after the hybridization of the labeled second reference DNA to the third hybridization array and determining signal intensities produced by the hybridization of the labeled second reference DNA to the third hybridization array at the corresponding different respective predefined locations of the third hybridization array; J) determining the sex of the preimplantation human embryo by comparing the signal intensities at the different respective predefined locations of the first hybridization array with the signal intensities at the corresponding different respective predefined locations of the second hybridization array and the third hybridization array; k) selecting a sex-matched hybridization array from the second hybridization array and the third hybridization array by determining, based on results obtained from step j), which one of the first reference genomic DNA and the second reference genomic DNA is sex-matched with the first sample genomic DNA; l) estimating a copy number of the specific human chromosome in the first sample genomic DNA by comparing the signal intensities at the different respective predefined locations of the first hybridization array to the signal intensities at the corresponding different respective predefined locations of at least the sex-matched hybridization array; m) determining the presence or absence of a copy number imbalance of the specific human chromosome in the first sample genomic DNA of the first test sample based on results obtained in step l); and n) screening the preimplantation human embryo for implantation based on results obtained from step m).