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Preimplantation genetic testing: the different options explained

Genetic counsellor Kelly Loggenberg explains what preimplantation genetic testing is, the different types and who might be offered it.

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Preimplantation genetic testing (PGT) means testing a small number of cells taken from an embryo, usually at blastocyst stage, before transfer. There are separate forms with separate purposes. PGT-A looks at whether an embryo has the expected number of chromosomes. PGT-M is used when a specific single-gene condition runs in a family. PGT-SR is used when a parent carries a structural chromosome rearrangement such as a translocation. These are different tests answering different questions, and none of them is a general health screen. PGT does not create better embryos and does not guarantee pregnancy or a healthy baby: results can be inconclusive, a biopsy adds cost and a small handling risk, and most people having IVF in South Africa do not need it. Testing is normally discussed with a genetic counsellor first, and for PGT-M or PGT-SR the family's genetic condition has to be characterised before a test can be designed.

Recorded in 2022. The purposes of PGT-A, PGT-M and PGT-SR still hold in 2026, but reporting terminology (including how mosaic results are described) and clinic practice have moved on — ask your clinic and genetic counsellor how they report results now.

Key takeaways

  • PGT is not one test: PGT-A counts chromosomes, PGT-M looks for a known single-gene condition and PGT-SR is for structural rearrangements.
  • It is offered for specific reasons, not routinely — most people having IVF do not need it.
  • PGT cannot guarantee a pregnancy or a healthy baby, and results can be inconclusive.
  • Genetic counselling before testing is part of the process, especially for a known family condition.

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References

  • Fertility Show Africa Expert Talks — https://www.youtube.com/watch?v=dmXai14u-dM

This video was produced by Fertility Show Africa Expert Talks (programme curated with IFAASA and SASREG) and is shared for education only. It is not medical advice and does not replace guidance from your own doctor or fertility clinic. Naming an organisation does not imply a partnership with Antega.