PGT-SR for Balanced Translocation Carriers: What to Ask and Consider

Understanding PGT-SR and Balanced Translocations

If you or your partner carry a balanced translocation, you may have been told that PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) could help during IVF. This test is designed to identify embryos that have a normal or balanced set of chromosomes, avoiding those with an unbalanced rearrangement that could lead to miscarriage or a child with health problems.

PGT-SR is not a guarantee of a successful pregnancy or a healthy baby. It is one option to consider, and it requires careful discussion with your fertility team and a genetic counselor.

At a Glance

• PGT-SR is a genetic test performed on embryos created through IVF.
• It aims to detect embryos with unbalanced chromosome rearrangements.
• It does not test for all genetic conditions or guarantee a live birth.
• Your clinic will need to confirm the exact testing platform and its limitations.

What Is a Balanced Translocation?

A balanced translocation is a chromosomal rearrangement where pieces of chromosomes have swapped places, but the total amount of genetic material is normal. Carriers usually have no health problems themselves, but they may produce eggs or sperm with unbalanced chromosomes, which can lead to miscarriage or a child with disabilities.

PGT-SR is specifically designed for this situation, but it is not the only option. Some carriers may consider prenatal testing after natural conception, or they may choose not to test at all. The right choice depends on your personal, medical, and ethical considerations.

How PGT-SR Works

PGT-SR is performed as part of an IVF cycle. After eggs are fertilized, embryos are cultured for several days. A few cells are then biopsied from each embryo and sent for genetic analysis. The test looks for the specific translocation you carry, aiming to identify embryos with a normal or balanced chromosome pattern.

The process involves several steps, and your clinic will guide you through each one. It is important to understand that the test is not 100% accurate, and there is a small risk of misdiagnosis. Your clinic should explain the laboratory methods they use and the quality controls in place.

What PGT-SR Can and Cannot Tell You

PGT-SR can identify embryos that appear to have a normal or balanced chromosome set for the translocation in question. However, it cannot guarantee that an embryo is completely free of all genetic or chromosomal issues. It also does not test for single-gene disorders or other chromosomal abnormalities unrelated to the translocation.

Furthermore, PGT-SR does not guarantee implantation, pregnancy, or a live birth. Embryo quality, uterine factors, and other medical issues also play a role. The test is a screening tool, not a cure.

Alternatives to PGT-SR

If you are a balanced translocation carrier, you may have other options:

• Natural conception with prenatal testing: You could conceive naturally and undergo chorionic villus sampling (CVS) or amniocentesis during pregnancy to check the baby’s chromosomes.
• IVF without PGT-SR: You could have IVF and transfer embryos without genetic testing, accepting the risk of an unbalanced embryo.
• Using donor eggs or sperm: Some carriers choose to use a donor to avoid passing on the translocation.
• Not testing: You may decide not to pursue any testing and accept the natural risks.

Each option has its own benefits and drawbacks. A genetic counselor can help you weigh them based on your specific translocation and personal values.

Questions to Ask Your Clinic

Before deciding on PGT-SR, consider asking your fertility clinic and genetic counselor the following questions:

• What specific testing method will be used for PGT-SR, and what are its accuracy and limitations?
• How many embryos typically reach the biopsy stage in cases like mine?
• What is the expected turnaround time for results, and how does that affect the IVF cycle?
• Are there any additional tests recommended, such as PGT-A for other chromosomes?
• What are the costs involved, and are there any financial risks if no embryos are suitable for transfer?
• What is the policy on transferring embryos with uncertain results?
• How will the embryos be frozen and stored if needed?

These questions can help you understand what to expect and make an informed decision.

Next Steps and Considerations

If you are considering PGT-SR, here is a simple checklist to guide you:

1. Confirm your translocation diagnosis with a genetic counselor.
2. Discuss your reproductive options, including PGT-SR, prenatal testing, and alternatives.
3. Choose an IVF clinic with experience in PGT-SR and ask about their laboratory protocols.
4. Understand the costs, timelines, and potential outcomes before starting.
5. Consider the emotional and ethical aspects of embryo testing.

Remember, PGT-SR is a personal choice. Take the time you need to gather information and support.

Learn More

For more information about PGT in Thailand, visit our PGT in Thailand page. You can also explore our guides and FAQ for additional insights.

Frequently asked questions

Is PGT-SR the same as PGT-A?

No. PGT-A (Preimplantation Genetic Testing for Aneuploidy) screens embryos for any abnormal number of chromosomes, while PGT-SR is specifically designed to detect unbalanced rearrangements caused by a known structural rearrangement like a balanced translocation. Some clinics may combine both tests, but they are different.

Can PGT-SR guarantee a healthy baby?

No. PGT-SR can reduce the risk of transferring an embryo with an unbalanced translocation, but it cannot guarantee a successful pregnancy or a baby without health issues. Other genetic conditions and factors are not covered by this test.

What happens if no embryos are suitable for transfer after PGT-SR?

If no embryos have a normal or balanced result, you may need to consider another IVF cycle, use donor gametes, or explore other family-building options. Your clinic will discuss the possibilities based on your individual situation.

Does PGT-SR require IVF?

Yes, PGT-SR is performed on embryos created through IVF. It cannot be done with natural conception. If you prefer not to use IVF, prenatal testing is an alternative to consider.

Continue your research

• PGT in Thailand overview
• PGT and IVF guides
• Frequently asked questions

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.