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    Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)

    Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) is a specialized form of genetic testing used in conjunction with In Vitro Fertilization (IVF). It’s designed to identify embryos affected by chromosomal structural rearrangements, such as translocations or inversions, that can be carried by one or both parents.

    Purpose

    The main goal of PGT-SR is to detect and select embryos with a normal or balanced chromosomal arrangement to improve the chances of a successful and healthy pregnancy. This is especially valuable for couples where one partner is known to carry a structural chromosomal rearrangement, which can increase the risk of miscarriage or the birth of a child with a chromosomal disorder.

    Procedure

    IVF Process: Eggs are retrieved from the ovaries and fertilized with sperm in the laboratory to produce embryos.
    Embryo Biopsy: On the fifth or sixth day of embryo development (blastocyst stage), several cells are carefully extracted from each embryo.
    Genetic Analysis: The biopsied cells are examined to detect imbalances caused by the chromosomal rearrangement.
    Embryo Transfer: Embryos with a normal or balanced chromosomal arrangement are prioritized for transfer to the uterus.

    Clinical Implications

    Increased IVF Success Rates: By selecting embryos with a balanced or normal chromosomal makeup, PGT-SR can enhance the likelihood of implantation and ongoing pregnancy.
    Reduction in Miscarriages: Structural chromosomal rearrangements are a common cause of recurrent miscarriages. PGT-SR can reduce the risk by ensuring the transfer of chromosomally balanced embryos.
    Prevention of Chromosomal Disorders: PGT-SR can prevent the birth of children affected by specific chromosomal disorders linked to the parent's structural rearrangement.

    Considerations

    Not a Guarantee: While PGT-SR improves the chances of a successful pregnancy, it does not guarantee a healthy baby. Other factors might still impact the pregnancy.
    Cost: PGT-SR adds to the overall expense of IVF.
    Ethical Concerns: There may be ethical dilemmas regarding the selection and potential discarding of embryos based on genetic findings.
    Emotional Impact: It can be emotionally challenging, especially if few or no chromosomally balanced embryos are identified.

    Who Might Benefit from PGT-SR?

    Known Carriers: Couples where one partner has a diagnosed chromosomal structural rearrangement.
    Recurrent Miscarriages: Couples who've experienced multiple unexplained miscarriages.
    Previous Affected Offspring: Those who've had a child with a chromosomal disorder linked to a structural rearrangement.

    Conclusion

    PGT-SR offers a solution for couples at risk of passing on chromosomal imbalances to their offspring due to structural rearrangements. By identifying and prioritizing embryos with balanced or normal chromosomal arrangements, PGT-SR can increase the chances of a healthy, successful pregnancy. Like other forms of genetic testing, it’s crucial to approach PGT-SR with a full understanding of its benefits, limitations, and potential ethical considerations. Consulting with both a fertility specialist and genetic counselor is advisable.

    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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