Scientific background and education
PGT-mt fundamentals
A six-chapter course covering mitochondrial genetics, heteroplasmy, the genetic bottleneck, embryo development and biopsy, PGT-mt methods and interpretation of results. Scientific statements are linked to primary publications.
Each chapter offers two levels: “Essentials” explains the key concepts in accessible language; “Advanced” examines mechanisms, methodological limitations and primary sources. Both levels share the same diagrams and models.
Contents
six chapters
- Mitochondrial DNA and maternal inheritance
The mitochondrial genome, copy number, homoplasmy and heteroplasmy, maternal transmission
- Heteroplasmy and threshold effects
Measuring heteroplasmy, tissue variability, thresholds and analytical error
- The mitochondrial genetic bottleneck
Why one woman’s oocytes differ: drift, replication, selection
- Embryo development and biopsy
Preimplantation stages, blastomere and trophectoderm biopsy, how representative a biopsy is
- How PGT-mt works
The clinical and laboratory pathway, from identifying a familial variant to follow-up after birth
- Interpreting results and understanding limitations
Ranking, the 18% and 30% reference points, aneuploidy, gaps in the evidence
Interactive models
illustrations of concepts
The three educational models use no experimental data and do not predict individual outcomes. Published observations are presented in the scientific sections of the Atlas.
- Heteroplasmy in a cell — Chapter 1
- Genetic bottleneck simulator — Chapter 3
- Explore the blastocyst and biopsy sample — Chapter 4
Bibliography
sources cited throughout this section
Publications cited in the chapters of this section
Educational material, not a clinical protocol.