Understanding PGT-M and PGT-A
If you and your partner carry a known genetic condition, you may be exploring IVF with preimplantation genetic testing (PGT). Two common types are PGT-M (for monogenic disorders) and PGT-A (for aneuploidy). While both involve testing embryos before transfer, they answer different questions. PGT-M looks for a specific inherited condition, while PGT-A checks for the correct number of chromosomes. This article explains the difference in purpose, process, and prerequisites, and why PGT-M is not a substitute for PGT-A.
At a Glance
- PGT-M: Tests for a specific single-gene disorder (e.g., cystic fibrosis, thalassemia). Requires prior genetic workup.
- PGT-A: Screens for chromosomal abnormalities (aneuploidy) that can affect implantation or lead to miscarriage.
- PGT-SR: For structural rearrangements like translocations; sometimes grouped with PGT-A.
- Not interchangeable: PGT-M does not replace PGT-A, and vice versa.
What Is PGT-M?
PGT-M (preimplantation genetic testing for monogenic disorders) is used when one or both partners carry a known genetic mutation for a single-gene condition. The test identifies embryos that have inherited the disorder, allowing transfer of unaffected embryos. It is a targeted test: it looks for the specific mutation(s) you carry.
Prerequisites for PGT-M
PGT-M requires a prior genetic workup. This typically includes genetic testing of the parents to identify the exact mutation, and often testing of other family members to establish a genetic link. The IVF clinic and genetic laboratory need this information to design a personalized test for your embryos. Without this workup, PGT-M cannot be performed.
What Is PGT-A?
PGT-A (preimplantation genetic testing for aneuploidy) screens embryos for the correct number of chromosomes. Aneuploidy—having too many or too few chromosomes—is a common cause of implantation failure and miscarriage. PGT-A is not targeted to a specific disease; it is a general screen for chromosomal abnormalities.
When Is PGT-A Used?
PGT-A is often recommended for women of advanced maternal age, couples with recurrent miscarriage, or previous failed IVF cycles. However, it can be used in any IVF cycle. It does not require prior genetic testing of the parents.
Key Differences at a Glance
| Aspect | PGT-M | PGT-A |
|---|---|---|
| Purpose | Detect a specific single-gene disorder | Screen for chromosomal abnormalities |
| Target | Specific mutation(s) in the family | All chromosomes (or a subset) |
| Prerequisite | Prior genetic workup of parents | None (but may be combined with PGT-M) |
| Result | Embryo affected/unaffected for the condition | Embryo euploid/aneuploid |
| Use | Couples with known genetic conditions | General screening, often for age-related risk |
Why PGT-M Is Not a Substitute for PGT-A
PGT-M and PGT-A are complementary, not interchangeable. PGT-M only looks at the specific mutation you carry; it does not check for other chromosomal abnormalities. An embryo that is unaffected for your genetic condition could still have aneuploidy, which may lead to implantation failure or miscarriage. Conversely, PGT-A does not tell you whether an embryo carries a specific genetic disorder. Some couples may choose to have both tests performed on the same embryo biopsy.
What About PGT-SR?
PGT-SR (preimplantation genetic testing for structural rearrangements) is used when a parent has a chromosomal rearrangement, such as a translocation. It identifies embryos with unbalanced chromosomes. In some classifications, PGT-SR is grouped under PGT-A, but it is a distinct test. If you have a known translocation, your clinic may recommend PGT-SR.
Process Overview
Both PGT-M and PGT-A involve the same basic IVF steps: ovarian stimulation, egg retrieval, fertilization, embryo culture, and biopsy. The biopsy is typically performed on day 5 or day 6 embryos (blastocyst stage), removing a few cells from the trophectoderm (future placenta). The cells are then sent to a genetic laboratory for analysis. The main difference is the type of genetic test performed on the biopsied cells.
Limitations and Considerations
No genetic test can guarantee a healthy baby. PGT-M and PGT-A are screening tools that reduce the risk of transferring an affected embryo, but they have limitations:
- Mosaicism: Embryos may have a mix of normal and abnormal cells, which can complicate results.
- Technical errors: Although rare, laboratory errors can occur.
- Not all conditions: PGT-M is only available for specific single-gene disorders; it cannot test for all genetic conditions.
- Cost and time: PGT adds cost and time to an IVF cycle, and not all clinics offer the same testing platforms.
It is important to discuss the limitations with your clinic and genetic counselor.
Questions to Ask Your Clinic
- What type of PGT do you recommend for our situation, and why?
- Do you offer PGT-M and PGT-A, and can they be combined?
- What genetic workup is required before PGT-M?
- How long does the testing take, and how does it affect the IVF timeline?
- What are the costs for PGT-M and PGT-A, and are they separate?
- How are mosaic embryos handled?
Next Steps
- Confirm your genetic diagnosis and whether PGT-M is applicable.
- Consult with an IVF clinic in Thailand that offers PGT services.
- Undergo the required genetic workup with a qualified genetic counselor.
- Discuss whether PGT-A should be added to your cycle.
- Review the clinic’s laboratory accreditation and success rates (ask for their own data).
For more information, see our PGT in Thailand guide, explore our guides, or check the FAQ.
Frequently asked questions
Can PGT-M and PGT-A be done at the same time?
Yes, in many cases both tests can be performed on the same embryo biopsy. The biopsied cells are split, and separate analyses are run for the specific mutation (PGT-M) and chromosomal status (PGT-A). However, this depends on the laboratory's capabilities and the quality of the biopsy. Discuss with your clinic whether combined testing is available.
Do I need genetic testing before PGT-M?
Yes, PGT-M requires prior genetic testing of the parents to identify the exact mutation. This is often done through a blood or saliva sample. The laboratory needs this information to design a personalized test for your embryos. Without this workup, PGT-M cannot be performed.
Is PGT-M more expensive than PGT-A?
PGT-M is generally more expensive than PGT-A because it requires a personalized test design and often involves additional workup. However, costs vary by clinic and the specific genetic condition. You should ask your clinic for a detailed breakdown of costs for each test.
Does PGT-M guarantee a baby without the genetic condition?
No, PGT-M is highly accurate but not 100% guaranteed. There is a small risk of misdiagnosis due to technical limitations or mosaicism. It is important to discuss the accuracy and limitations with your clinic and consider confirmatory prenatal testing if desired.
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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.