Understanding PGT-A and PGT-P
If you are exploring IVF with genetic testing, you may have come across terms like PGT-A and PGT-P. While both are types of preimplantation genetic testing, they serve different purposes. PGT-A (preimplantation genetic testing for aneuploidy) checks embryos for the correct number of chromosomes, while PGT-P (preimplantation genetic testing for polygenic risk scoring) estimates the likelihood of developing certain common conditions influenced by multiple genes. This article explains the key differences, the experimental status of PGT-P, and important considerations for patients.
At a Glance
- PGT-A: Screens for chromosomal abnormalities (aneuploidy) to select embryos with the correct chromosome number.
- PGT-P: Estimates polygenic risk for conditions like diabetes, heart disease, or certain cancers, based on many genetic variants.
- Status: PGT-A is widely used; PGT-P is considered experimental and not widely offered.
- Limitations: Both tests have limitations and cannot guarantee a healthy baby.
What Is PGT-A?
PGT-A, previously known as preimplantation genetic screening (PGS), is a test performed on embryos created through IVF. It checks for aneuploidy—an abnormal number of chromosomes. Most embryos with aneuploidy fail to implant or result in miscarriage. By selecting embryos with the correct chromosome number, PGT-A may improve the chances of a successful pregnancy, especially for women of advanced maternal age or those with recurrent pregnancy loss.
PGT-A is a well-established procedure in many fertility clinics. However, it is not a guarantee of pregnancy or a healthy baby. Some embryos with normal chromosomes may still fail to implant, and other factors such as uterine health and embryo quality play a role.
What Is PGT-P?
PGT-P is a newer, experimental test that aims to assess the risk of developing polygenic conditions—those influenced by multiple genes and environmental factors. Examples include type 2 diabetes, coronary artery disease, certain cancers, and autoimmune disorders. PGT-P uses a polygenic risk score (PRS), which aggregates the effects of many genetic variants to estimate an individual’s likelihood of developing a condition.
Unlike PGT-A, which looks at chromosome number, PGT-P analyzes specific genetic markers associated with common diseases. The idea is to select embryos with lower polygenic risk scores, potentially reducing the chance of these conditions in offspring. However, PGT-P is not widely available and is considered experimental by many professional organizations.
Key Differences Between PGT-A and PGT-P
| Aspect | PGT-A | PGT-P |
|---|---|---|
| Purpose | Detect chromosomal abnormalities (aneuploidy) | Estimate polygenic risk for common conditions |
| What it analyzes | Chromosome number (23 pairs) | Multiple genetic variants associated with specific diseases |
| Clinical status | Widely used in IVF | Experimental, not widely offered |
| Conditions targeted | Chromosomal disorders like Down syndrome | Polygenic conditions like diabetes, heart disease |
| Result interpretation | Normal or abnormal chromosome count | Risk score (low, medium, high) for each condition |
| Limitations | Cannot detect all genetic abnormalities; not a guarantee | Limited predictive power; ethical concerns; not clinically validated |
How PGT-P Works
PGT-P involves several steps. After embryos are created through IVF, a few cells are biopsied from each embryo. The DNA is then analyzed for thousands of genetic variants known to influence polygenic conditions. A polygenic risk score is calculated for each embryo, and embryos with lower risk scores may be prioritized for transfer.
However, the science behind PGT-P is still evolving. The predictive accuracy of polygenic risk scores varies by condition and population. For many conditions, the scores explain only a small fraction of the overall risk, which is also influenced by lifestyle and environment. This means that a low-risk embryo could still develop the condition, and a high-risk embryo might not.
Limitations and Ethical Considerations
Both PGT-A and PGT-P have limitations. PGT-A cannot detect all genetic abnormalities, such as single-gene disorders or structural rearrangements. It also cannot predict the severity of a condition if a chromosomal abnormality is present.
PGT-P has additional limitations. It is not clinically validated, meaning its ability to predict disease risk is not well-established. There are also ethical concerns about selecting embryos based on polygenic risk, including the potential for discrimination and the psychological impact on families. Some experts worry that PGT-P may give a false sense of control, as many polygenic conditions are preventable or manageable through lifestyle changes.
Professional organizations, such as the American Society for Reproductive Medicine (ASRM), have expressed caution about PGT-P, noting that it should be offered only in research settings until more evidence is available.
Should You Consider PGT-P?
If you are considering PGT-P, it is important to understand that it is not a standard part of IVF. Most clinics do not offer it, and those that do may have specific criteria. Before deciding, ask your clinic about the following:
- Is PGT-P available at your clinic? If so, what is the process?
- What conditions does the test screen for?
- How accurate are the risk scores for your ethnic background?
- What are the costs, and are they covered by insurance?
- What are the limitations and potential risks?
It is also crucial to consider the emotional and ethical implications. PGT-P results may cause anxiety or lead to difficult decisions. Genetic counseling is strongly recommended to help you understand the results and make informed choices.
Questions to Ask Your Clinic
When discussing PGT-A or PGT-P with your fertility specialist, consider asking:
- Why do you recommend this test for my situation?
- What are the risks of the biopsy procedure?
- How long does it take to get results?
- What are the success rates with and without this testing?
- Are there alternative tests or approaches?
Next Steps
If you are exploring genetic testing as part of your IVF journey, start by researching reputable clinics and scheduling consultations. Ask about their experience with PGT-A and whether they offer PGT-P. Remember that no test can guarantee a healthy baby, and all decisions should be made in consultation with your medical team.
For more information on PGT in Thailand, visit our PGT in Thailand page. You can also explore our guides and FAQ sections for additional resources.
Frequently asked questions
Is PGT-P the same as PGT-A?
No, they are different tests. PGT-A checks for chromosomal abnormalities (aneuploidy), while PGT-P estimates polygenic risk for common conditions like diabetes or heart disease. PGT-P is experimental and not widely offered.
What is a polygenic risk score?
A polygenic risk score (PRS) is a calculation based on many genetic variants that together influence the likelihood of developing a particular condition. It is used in PGT-P to estimate an embryo's risk for polygenic diseases.
Is PGT-P available in Thailand?
PGT-P is not widely available anywhere, including Thailand. It is considered experimental, and most clinics do not offer it. If you are interested, you should ask your clinic directly about availability and whether they participate in research studies.
Can PGT-P guarantee that my child won't develop a disease?
No, PGT-P cannot guarantee that a child will not develop a polygenic condition. It only provides a risk estimate, and many factors, including lifestyle and environment, play a significant role. The predictive power of polygenic risk scores is limited.
What are the ethical concerns with PGT-P?
Ethical concerns include the potential for discrimination based on genetic risk, the psychological impact on families, and the risk of giving a false sense of control. Some experts worry about the lack of clinical validation and the possibility of selecting embryos for non-medical traits.
Continue your research
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.