In the journey towards parenthood, modern science has gifted us with remarkable tools to navigate the complexities of genetic inheritance and ensure the health and well-being of future generations. One such groundbreaking technology is Preimplantation Genetic Testing for Monogenic Disorders (PGT-M), a service pioneered by Reproductive Genetic Innovations (RGI). Let’s delve into the PGT-M process at RGI and explore how it empowers individuals and families to make informed decisions about their genetic futures.
Understanding PGT-M:
PGT-M is a genetic testing technique designed to identify if there is a single-gene disorder(s) in embryos created through in vitro fertilization (IVF). These disorders, which include conditions such as cystic fibrosis, sickle cell anemia, and Huntington’s disease, are usually caused by mutations in a single gene. By testing embryos for these genetic abnormalities before implantation, couples can select and transfer only those embryos that are free from the targeted disorder (genetic variant), avoiding the risk of passing it on to their children.
The PGT-M Process at RGI:
At Reproductive Genetic Innovations, we are committed to providing the highest standard of care in preimplantation genetic testing. Our PGT-M process is meticulously designed to deliver reliable results while prioritizing the well-being of our patients.
- Initial Inquiry: The journey begins with a requisition form (physician’s order) completed by your fertility specialist. A simple email to our team asking about testing for your specific needs will also work to get started. Genetic reports (such as carrier screening results or single-gene disorder testing) are required to confirm the need for PGT and should be submitted at the time of your initial inquiry or with your requisition form. This initial step ensures that we have all the necessary information to evaluate your case accurately.
- Case Review: Our experts will review your physician’s order along with the submitted genetic reports to determine feasibility of your case for PGT-M. During this stage, we may reach out to you with additional questions. Be sure to check your e-mail and voicemail to avoid delays in the process.
- Genetic Consultation: The next step is a comprehensive consultation with one of our certified genetic counselors. During this pre-test phone consultation, you will receive detailed information about the advantages and limitations of testing. Our team works closely with you and your doctor to develop a personalized testing plan.
- Consent: Following your consultation with a Genetic Counselor, we will e-mail you consent forms outlining your testing plan and financial responsibility. These consent forms confirm your decision to pursue PGT-M and the financial responsibility associated with PGT for your case.
- Test Setup: Once a testing plan is established and confirmed, a testing workup or setup must be created before testing can start. This “setup” is unique to each patient. We will send out a DNA collection kit to you and sometimes your family members. This step must be completed prior to starting an IVF cycle and can take several weeks or months to create. Your Genetic Counselor will explain the DNA collection process to you in step 3 of the process.
- Testing: The IVF cycle begins, and embryos are created using IVF assisted reproductive technologies chosen by your fertility clinic. At the appropriate stage of embryo development, most often the blastocyst stage (Day 5 or 6), a few cells (3-5) are carefully removed from the trophectoderm via biopsy for genetic analysis. Trophectoderm cells later develop into the placenta. These biopsied cells or DNA from the embryo biopsy are then sent to RGI and analyzed to identify the presence or absence of the targeted genetic mutation(s).
- Results: Following genetic analysis, our team will provide your referring fertility provider(s) with a detailed report describing the genetic status of each embryo. Results are delivered with up to 98% accuracy.
Embryo Selection:
Armed with your PGT results, you and your fertility team can make informed decisions about which embryo is best for transfer and implantation.
Once an embryo has been selected, it is transferred to the uterus using standard IVF procedures. Your fertility provider will closely monitor this process. By selecting an embryo free from the targeted genetic disease, patients can significantly reduce the risk of passing on the genetic disorder to their future children.
Why Choose RGI for PGT-M?
Reproductive Genetic Innovations (RGI) is a leader in the field of preimplantation genetic testing. Since 1990 our experience includes 42,000 PGT cycles for over 795 disorders and counting. Our team of dedicated professionals is here to support you throughout your PGT journey.
Can I Combine PGT?
PGT-M is most often requested in combination with PGT-A (Preimplantation Genetic Testing for Aneuploidy). PGT-A detects chromosomal abnormalities such as missing or extra copies of chromosomes and can increase the pregnancy rate in an IVF cycle. RGI will have enough DNA from the initial biopsy to perform additional testing as requested by your fertility doctor. Learn more about our PGT offerings here.
How Do I Know if RGI Works with my Fertility Doctor?
Just ask us! We are happy to work with the fertility specialist of your choice. Simply request RGI as your PGT laboratory and we’ll handle the rest.
Conclusion:
The PGT-M process at Reproductive Genetic Innovations offers hope for individuals and families facing genetic disorders. With technology, personalized care, and unwavering dedication to patient satisfaction, we are proud to offer our patients the chance to build families free from the burden of genetic disease.
We invite you to learn more about our services and discover how we can help you on your path to parenthood. Contact us today or speak to your fertility specialist to schedule a consultation and take the first step towards a healthier future for your family.
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