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    Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M)

    Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M), formerly known as Preimplantation Genetic Diagnosis (PGD), is a laboratory procedure used alongside In Vitro Fertilization (IVF) to identify embryos carrying specific genetic mutations responsible for single gene disorders.

    Purpose

    The primary goal of PGT-M is to prevent the transmission of inherited monogenic disorders from parents to their children by identifying and selecting embryos that do not carry the specific genetic mutation for implantation.

    Procedure

    IVF Process: Eggs are retrieved from the ovaries and fertilized with sperm in the laboratory, leading to embryo formation.
    Embryo Biopsy: Typically, on the fifth or sixth day of embryo development (blastocyst stage), a few cells are carefully removed from each embryo.
    Genetic Analysis: The biopsied cells are analyzed for the presence of specific genetic mutations associated with the known monogenic disorder.
    Embryo Transfer: Embryos not carrying the genetic mutation are prioritized for transfer to the uterus.

    Clinical Implications

    Prevention of Genetic Disorders: PGT-M can significantly reduce the risk of having a child with a known inherited monogenic disorder.
    Informed Decision Making: PGT-M offers couples the information needed to make decisions regarding which embryos to transfer, potentially avoiding the difficult choice of terminating an affected pregnancy or preparing for a child with a genetic disorder.
    Reduced Need for Prenatal Testing: Since PGT-M identifies embryos without the genetic mutation before implantation, there might be less need for invasive prenatal testing (like amniocentesis) later on.

    Considerations

    Accuracy: While PGT-M is highly accurate, no test is 100% foolproof. There's a minimal chance of misdiagnosis.
    Cost: PGT-M adds to the overall cost of IVF.
    Ethical Concerns: Some individuals and groups have ethical concerns about selecting embryos based on genetic testing and potential discarding of embryos with mutations.
    Emotional Impact: The procedure can be emotionally taxing, especially if few or no embryos are found to be free of the mutation.

    Who Might Benefit from PGT-A?

    Known Genetic Disorders: Couples where one or both partners are known carriers or affected by a single gene disorder.
    Previous Affected Pregnancy: Couples who've had a previous pregnancy affected by a genetic disorder.
    Family History: Individuals with a strong family history of a specific genetic disorder.

    Conclusion

    PGT-M offers a proactive approach for couples at risk of transmitting single gene disorders to their offspring. By identifying and selecting embryos free from specific genetic mutations, PGT-M provides an opportunity for these couples to have unaffected children. As with all reproductive decisions, it’s essential to weigh the benefits, risks, and ethical considerations. A consultation with a fertility specialist and genetic counselor can provide valuable insights and guidance.

    Onco-Genomics is the first in-house DNA & oncological testing Centre in West Africa. We specialize in advanced genetic testing across various life stages, ensuring your family’s health and well-being are always at the forefront.

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