In this episode of The Egg Whisperer Show, I explain Preimplantation Genetic Testing for Aneuploidy (PGTA) and provide crucial insights for those considering it.
I outline seven key steps for optimizing the use of PGTA to help you make the most informed fertility decisions. This episode offers practical advice for anyone navigating genetic testing and embryo selection during their fertility journey.
In this episode, we cover the 7 key steps to understand about PGTA:
- Step 1: Plan for multiple retrievals if needed
- Step 2: Understand that embryo quality matters
- Step 3: Prepare for inconclusive test results
- Step 4: Get clarity on mosaic and segmental embryos
- Step 5: Review embryo disposition consent forms carefully before starting
- Step 6: Know that PGTA only screens for chromosomes, not all genetic issues
- Step 7: Be aware of potential abnormal pregnancies
Resources:
NEW PGT-A Test Shows that Nearly All Blastocysts and Fetal Tissue are Mosaic with Meaghan Doyle
Why You Need to do PGT (or do you?) with guest Dr. Geoffrey Sher
What Patients Need to Know About Mosaic Embryos and PGT-A with Katie Herrero
Find Dr. Aimee’s Fertility Essentials & Supplements
Transcript:
Welcome back to The Egg Whisperer Show.
I’m Dr. Aimee, your fertility expert and biggest cheerleader on your journey to parenthood. Today we’re diving into a hot topic. PGTA or what I call “PGT-Ambiguous.” The A actually stands for aneuploidy, which means chromosomal abnormalities. And if you’re considering testing your embryos before transfer, you’ll want to stick around because I’m sharing key insights to help you make the most informed decisions.
Let’s get started.
Number One, plan for multiple retrievals if needed. Even with PGTA, you may need more embryos to increase your chances of a successful pregnancy, because not every “normal” embryo actually will work because all we’re testing are the chromosomes.
Step Two, make sure that you know that quality does matter. Just because an embryo is genetically normal doesn’t mean it’s ideal. Working with a specialist to evaluate embryo grading alongside genetic results is also really important. I talk about embryos as if they’re diamonds. They get quality scores, and the appearance of an embryo has everything to do with how likely it is to stick and grow.
Step Three, prepare for inconclusive results. Sometimes PGTA results come back as “ No DNA detected.” Discuss a backup plan with your doctor to avoid delays. If an embryo is really strong, sometimes we talk about doing a double biopsy on it, but only if the quality is good. Doing a double biopsy may decrease the implantation rate of that embryo.
Step Four, get clarity on mosaic and segmental embryos. Don’t allow anyone to destroy your abnormal embryos until you’ve reviewed the results with a fertility geneticist.
This way, you’ll ensure you understand the full report before making decisions. Remember, I call PGTA ambiguous because it’s not a hundred percent accurate. I use it as a way to prioritize embryos and select the most likely embryos that will be successful. But there are embryos, even if they’re reported as abnormal, that can turn into perfectly healthy babies.
Step Five: review your embryo disposition consent forms carefully before you even start your journey. When you sign those IVF consents, please sign that you will not discard any abnormal embryos. This will protect you.
Make sure you fully understand the status of each embryo before making permanent decisions. How can you decide to discard embryos if you don’t even know the report yet?
Also, ask your clinic their policy on masking mosaic data, and make sure as part of your vetting of a clinic, that you ask your doctor what their policy and procedures are for transferring mosaics.
Step Six: Know that PGTA only screens for chromosomes, not all genetic issues, your embryo isn’t going to be a hundred percent normal just because you screen the chromosomes. There are more advanced genetic testing companies out there that do whole genome sequencing. Ask your doctor if they work with them. I do in my clinic. Embryo testing cannot rule out autism. Embryo testing cannot rule out birth defects.
Embryo testing cannot rule out rare syndromes. You have to keep realistic expectations and consider additional screening when needed.
Step seven. Be aware of potential abnormal pregnancies. Even PGTA tested embryos can result in miscarriages. Stay informed on what to watch out for and what steps to take.
I also offer my patients. The NIPTs, non-invasive prenatal diagnostic tests, the Vistara test, and the Panorama test at nine weeks of pregnancy.
I hope this short episode gave you clarity on PGTA and what it means for your fertility journey. If you go through these steps, you’ll hopefully not be making some of the mistakes that other patients can make.
Genetic testing can be a helpful tool. It is important to remember that it’s not a guarantee, and making the right plan with your doctor is key. If you want to learn more, I’ll put some other links to other episodes I’ve done about PGTA in the show notes, and you can always find more at draimee.org. Until next time, stay strong, stay informed, and keep believing in your dreams and see you soon.
