PGT-M

Genetic testing for Monogenic Disorders

Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) is a remarkable advancement in the field of assisted reproductive technology, offering couples with known genetic conditions the opportunity to conceive a healthy child.

  • PGT-M may be suitable for you if:

    • You and your partner both carry the same autosomal recessive condition such as Cystic Fibrosis, Sickle Cell Disease, or Beta Thalassemia.

    • You are a carrier of an X-linked condition like Duchenne Muscular Dystrophy.

    • You or your partner have an autosomal dominant condition like Huntington disease, Marfan Syndrome, or Myotonic Dystrophy.

    • You or your partner have a mutation associated with a hereditary cancer syndrome, for instance, BRCA1 & 2 or Lynch Syndrome.

    • You have experienced a previous pregnancy or have a child diagnosed with a single gene disorder.

  • PGT-M tests are customized for each family, and they can be performed for nearly any single gene disorder, given that the specific familial mutation has been identified and appropriate family members are available for necessary test preparation. In cases where you are the first person in your family to be diagnosed with the condition, it might still be possible to develop a unique PGT-M test. Each case is thoroughly evaluated upon referral.

By utilizing PGT-M, you have the opportunity to identify and avoid known monogenic diseases, ensuring that your baby starts life on a healthy note. PGT-M is among the most effective techniques available for achieving this goal.

THE PROS & CONS

    1. Genetic Disease Prevention: PGT-M enables prospective parents with known monogenic disorders to select embryos unaffected by the specific genetic condition, reducing the risk of passing it on to future generations.

    2. Enhanced Pregnancy Success Rates: By transferring embryos free from the targeted genetic disorder, the chances of achieving a successful pregnancy are significantly improved.

    3. Emotional Relief: PGT-M provides peace of mind and relief from the anxiety associated with the risk of passing on a genetic disorder to one's children.

    1. False Negative or Positive Results: PGT-M, like any genetic testing method, carries a small risk of inaccurate results. False negative results may occur due to limited cell sampling during embryo biopsy, while false positive results can lead to the inadvertent discarding of healthy embryos.

    2. Limited Scope: PGT-M focuses solely on specific monogenic disorders and does not provide comprehensive screening for all genetic conditions or chromosomal abnormalities.

    3. Ethical Considerations: PGT-M raises ethical dilemmas related to the selection and disposal of embryos based on genetic traits, warranting careful consideration and discussions with healthcare professionals.

THE PROCESS

  • PGT-M is typically performed in conjunction with in vitro fertilization (IVF) treatment. The patient undergoes ovarian stimulation to produce multiple eggs, which are then retrieved for fertilization.

  • The retrieved eggs are fertilized with the partner's or a donor's sperm in the laboratory, resulting in the formation of embryos.

  • A few cells are carefully removed from each embryo for genetic analysis, ensuring minimal disruption to the embryo's development.

  • The extracted cells undergo sophisticated genetic analysis to determine if the embryos carry the targeted monogenic disorder.

  • Only unaffected embryos are selected for transfer, increasing the chances of a successful pregnancy.

  • PGT-M is highly accurate when performed by skilled professionals, but there is a small margin of error associated with the genetic testing process.

  • Today, PGT-M can be conducted for nearly all single gene disorders where a specific mutation has been identified and suitable family members are available for testing. Our aim is to provide comprehensive options for individuals seeking PGT-M, ensuring that we can address a wide range of genetic disorders and offer the best possible solutions.

  • PGT-M is specifically designed for monogenic disorders caused by single gene mutations. It is not applicable to complex genetic conditions or chromosomal abnormalities.

  • Embryo biopsy is a delicate procedure, but in the hands of experienced embryologists, the risk of harm to the embryo is minimal.

PGT-M represents a significant breakthrough in helping couples with known monogenic disorders conceive healthy children and prevent the transmission of genetic diseases. The benefits of PGT-M, including disease prevention and improved pregnancy success rates, make it a valuable option for family planning. Understanding the risks, limitations, and procedural aspects of PGT-M is crucial for individuals or couples considering this advanced reproductive technology. Consulting with Dr Kleanthis and a genetic counselor can provide personalized guidance and support throughout the process.

Book your non-obligatory discovery call today to find out if PGT-M is suitable for you, to ensure the best possible chance of achieving your dream of having a healthy family.