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US 9,944,987 B2Granted
Assessment of risk of aneuploidy
AssigneeBluegnome Limited
InventorAlan Handyside
Life of this patent
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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), fertilized eggs or embryos developed therefrom in the context of in vitro fertilization.
Claims21
A method of assessing centromeric heterozygosity of maternal meiotic origin in a human egg, the method comprising:
- obtaining a first polar body (PB1) from said human egg, said first polar body comprising one or more PB1 chromosomes;
- performing a nucleic acid detection assay to interrogate at least 25 biallelic SNPs flanking the centromeres of said one or more PB1 chromosomes, said SNPs located within 5 to 10 Mb of the centromere;
- and
- based on the results of the nucleic acid detection assay, assessing the presence or degree of centromeric heterozygosity (CH) for said one or more PB1 chromosomes.
1 more element
Dependencies are inferred from the claim text.