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Updated: Dec 17, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Mitochondrial DNA quantity as a biomarker for blastocyst implantation potential
1Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital; and CooperGenomics, Institute of Reproductive Sciences, Oxford, United Kingdom.
Abstract:
Of all the factors currently available for the evaluation of embryonic potential, chromosomal status appears to be the most definitive. The debate around this hotly contested issue does not focus on the question of whether aneuploidy is detrimental to development, but on whether current preimplantation genetic testing for aneuploidy methods are capable of accurately determining whether an embryo is chromosomally normal, aneuploid or a mixture of normal and abnormal cells (i.e., mosaic). Despite the importance of aneuploidy, it is clear that this is only one factor amongst many of relevance to embryo viability, as evidenced by the fact that even the transfer of a chromosomally normal embryo cannot guarantee a pregnancy. Mounting evidence supports the hypothesis that blastocysts having unusually high levels of mitochondrial DNA detected in the trophectoderm have greatly reduced implantation potential, but there remain significant areas where further validation is necessary and where our understanding is currently inadequate. This should provide fertile ground for future research and is likely to yield some fascinating insights in the coming years.

