PGT-mt Atlas

An open database of published embryo heteroplasmy values from preimplantation genetic testing for mitochondrial DNA variants (PGT-mt). Each value is linked to its source.

For patients

What heteroplasmy means, what PGT-mt can offer, and why a percentage in a test report is not a diagnosis.

PGT-mt fundamentals

A six-chapter course on mtDNA inheritance and the interpretation of PGT-mt results, for clinicians, embryologists and students.

For specialists

Interactive charts, a source-linked data table, and an explanation of the methods and limitations.

The scientific database

what is inside

The Atlas presents published heteroplasmy levels and explains how to interpret these values.

187
embryo heteroplasmy values
40
blastocysts in which a biopsy sample was compared with other parts of the same embryo (including the inner cell mass in 20)
30
comparisons between embryo and tissue samples from 16 foetuses and children; the variant was not detected in either sample for 12 foetuses and children
22
publications (21 with a DOI)

Sections of the Atlas

from biopsy to data

  1. Between different embryos

    Heteroplasmy levels in embryos, by mtDNA variant and source

    Observed data
  2. Within individual embryos

    Agreement in heteroplasmy levels between different parts of the same embryo

    Observed data
  3. Embryo, foetus and child

    Heteroplasmy in embryo biopsies and prenatal or postnatal samples

    Observed data
  4. PGT-mt × PGT-A model

    Scenarios for joint selection using PGT-mt and preimplantation genetic testing for aneuploidy (PGT-A), and sensitivity to model assumptions

    Model calculation
Trophectoderm (TE) biopsy: a sample of a few TE cells in which PGT-mt measures the proportion of mtDNA carrying a pathogenic variant.

Published values only

Every value in the Atlas is linked to its primary source. These sources also underpin the mathematical model.