PGT-M Preparation Checklist for a Known Single-Gene Condition

If you are considering PGT-M (preimplantation genetic testing for monogenic disorders) for a known single-gene condition, preparation involves more than just booking an appointment. You will need to gather medical records, understand how the testing works, and ask the right questions to determine if PGT-M is feasible for your situation. This checklist will guide you through the key steps, but remember that every case is unique—your clinic will provide specific instructions based on your genetic results and treatment plan.

At a Glance

• Collect genetic reports and family history details.
• Confirm the genetic diagnosis and the specific gene/mutation.
• Ask about the need for a probe or test development.
• Understand the IVF cycle and biopsy process.
• Discuss timelines, costs, and legal considerations with your clinic.

Step 1: Gather Your Genetic Records

Your clinic will need detailed information about the genetic condition. Start by collecting:

• The genetic test report that identified the condition in you or your partner.
• Any carrier screening results.
• Family history details, including affected and unaffected relatives.
• If available, genetic test results from affected family members.

These records help the lab understand the specific mutation and design the PGT-M test. If you have not had genetic testing, your clinic can refer you to a genetic counselor or specialist.

Step 2: Confirm the Genetic Diagnosis

Before proceeding, ensure that the genetic condition is clearly identified. You should know:

• The exact gene involved.
• The specific mutation or variant.
• The inheritance pattern (autosomal dominant, recessive, X-linked, etc.).

If this information is unclear, ask your genetic counselor or doctor to explain it. PGT-M requires a precise genetic target to test embryos accurately.

Step 3: Understand Lab Feasibility

Not all genetic conditions are equally amenable to PGT-M. The lab will need to develop a customized test, which may require:

• Blood samples from you and your partner.
• Sometimes samples from other family members (e.g., an affected child or parent).
• Time to design and validate the test before your IVF cycle begins.

Ask your clinic about their laboratory’s experience with your specific condition. They can tell you if a test is feasible and how long it will take to prepare.

Step 4: Plan Your IVF Cycle

PGT-M is performed in conjunction with IVF. You will need to undergo ovarian stimulation, egg retrieval, and fertilization. After embryos develop, a few cells are biopsied and sent for genetic testing. Consider:

• Your overall health and fertility status.
• Any previous IVF experience.
• The number of embryos you hope to test.

Your clinic will provide a personalized treatment plan, including medication protocols and timing.

Step 5: Ask Key Questions

Prepare a list of questions for your clinic. Here are some to consider:

• How long will it take to develop the PGT-M test for our specific mutation?
• What samples are needed from us and our family members?
• What is the success rate for embryo biopsy and testing at your lab?
• How many embryos typically reach the biopsy stage?
• What are the costs for PGT-M testing, and what does that include?
• Are there any legal or ethical considerations we should be aware of?
• How will results be communicated, and what support is available?

Step 6: Consider Logistics and Support

If you are traveling for treatment, plan for:

• Time off work and travel arrangements.
• Accommodation near the clinic.
• Translation services if needed.
• Emotional support, such as counseling or support groups.

PGT-M can be emotionally challenging. It is important to have a support system in place.

Next Steps

After you have gathered your records and asked your questions, you can decide whether to proceed. Your clinic will guide you through the next steps, which may include:

• Genetic counseling sessions.
• Blood tests and sample collection.
• IVF cycle scheduling.
• Embryo transfer planning.

Remember, PGT-M is a complex process, but with careful preparation, you can make informed decisions.

Frequently asked questions

What is PGT-M?

PGT-M is a genetic test performed on embryos created through IVF to identify whether they carry a specific single-gene disorder. It helps families at risk of passing on a known genetic condition to select embryos that are unaffected.

How long does PGT-M testing take?

The timeline varies. Developing a customized test for your specific mutation can take several weeks to months. After embryo biopsy, results are typically available within a few days to a couple of weeks. Your clinic will provide a specific timeline.

Do we need to provide samples from family members?

Often, yes. The lab may need samples from you and your partner, and sometimes from an affected child or other relatives, to design an accurate test. Your clinic will advise on exactly what is needed.

Is PGT-M legal in Thailand?

The legal status of PGT-M can vary and may be subject to regulations. It is essential to confirm with your clinic and relevant authorities about the current legal framework and any restrictions that may apply.

What are the risks of PGT-M?

PGT-M involves embryo biopsy, which carries a small risk of damage to the embryo. There is also a small chance of misdiagnosis. Your clinic will explain the risks and limitations in detail.

Continue your research

• PGT in Thailand overview
• Patient resources
• Prepare a private case review

Medical information notice: This article is educational and does not replace individual assessment, diagnosis, genetic counselling or treatment advice from a licensed clinician. Provider services, availability, fees and policies should be verified directly before booking.