Assessment of risk of aneuploidy
AssigneeBluegnome Limited
InventorAlan Handyside
Life of this patent
Estimating the term…
Abstract
The present disclosure relates generally to methods and materials for use in detecting abnormalities of the number of whole chromosomes or chromosome regions (aneuploidy). It has particular utility for assessing the risk of aneuploidy of eggs (i.e., oocytes), fertilised eggs or embryos developed therefrom in the context of in vitro fertilisation.
Claims18
A system for selecting a human egg for transfer in an in vitro fertility procedure, the human egg comprising a first polar body (PB1), the first polar body comprising one or more PB1 chromosomes, the system comprising:
- an oligonucleotide microarray configured to perform a nucleic acid detection assay to interrogate genotype data of at least 25 biallelic SNPs flanking the centromeres of said one or more PB1 chromosomes, said SNPs in a region located within 5 to 10 Mb of the centromere, and
- a computer readable medium having stored thereon non-transitory computer-readable instructions for:
- a) accessing a database comprising genotype data obtained from said microarray,
- b) quantifying said biallelic SNPs that are heterozygous relative to a total number of SNPs in the region, to obtain a proportion of heterozygous SNPs,
- c) comparing the proportion of heterozygous SNPs to one or more threshold values associated with high levels of centromeric heterozygosity;
- and
- d) classifying the one or more PB1 chromosomes as having (i) a high degree of centromeric heterozyosity (CH) or (ii) a low degree of centromeric heterozygosity, based on the comparison of the proportion of heterozygous SNPs to the one or more threshold values;
- and
- e) outputting, to a display device. instructions to selectively transfer said human egg ahead of other eggs when said human egg is classified as having a low degree of centromeric heterozygosity.
A system for selecting a human egg for transfer in an in vitro fertility procedure, the human egg comprising a first polar body (PB1), the first polar body comprising one or more PB1 chromosomes, the system comprising:
- a next generation sequencing platform configured to interrogate genotype data of at least 25 biallelic SNPs flanking the centromeres of said one or more PB1 chromosomes, said SNPs in a region located within 5 to 10 Mb of the centromere, and
- a computer readable medium having stored thereon non-transitory computer-readable instructions for:
- a) accessing a database comprising genotype data obtained from said sequencing platform;
- b) quantifying said biallelic SINN that are heterozygous relative to a total number of SNPs in the region, to obtain a proportion of heterozygous SNPs,
- c) comparing the proportion of heterozygous SNPs to one or more threshold values associated with high levels of centromeric heterozygosity;
- and
- d) classifying the one or more PB1 chromosomes as having (i) a high degree of centromeric heterozyosity (CH) or (ii) a low degree of centromeric heterozygosity, based on the comparison of the proportion of heterozygous SNPs to the one or more threshold values;
- and
- e) outputting, to a display device, instructions to selectively transfer said human egg ahead of other eggs when said human egg is classified as having a low degree of centromeric heterozygosity.
Dependencies are inferred from the claim text.