Four Misconceptions about PGT-A (Genetic Testing for Aneuploidy on Embryos)

Katie Lee is a certified genetic counselor with over five years of practice in reproductive medicine. She has worked for one of the most well-known IVF clinics in the United States and a genetic testing laboratory that offers fertility related genetic testing. She is currently employed by one of the largest sperm banks in the US. Katie started this YouTube channel to support people going through fertility treatment and miscarriages. On this channel Katie discusses topics in fertility/preconception genetic counseling and her own personal experience with unexplained recurrent pregnancy loss.

Today Katie is starting a series on preimplantation genetic testing for aneuploidy (PGT-A), which is also known as preimplantation genetic screening or PGS. During this video she briefly describes PGT-A and explains four common patient misconceptions about PGT-A that she frequently hears while counseling patients.

Here are misconceptions she covers in this video:
1) PGT-A is 100% accurate. Nope- it is a very good screening tool to large chromosome imbalances in an embryo and most labs quote around a 98% accuracy, but it is not perfect and there is a chance for misdiagnosis of an embryo.
2) Transfering an embryo tested by PGT-A eliminates the risk for genetic diseases, autism, and birth defects in the baby. No- There is no genetic test on embryos or pregnancies that can eliminate the risk for all diseases. PGT-A only tests for large chromosome imbalances. Transferring a chromosomally normal (euploid) embryo does not reduce the risk for single gene diseases, birth defects, or multifactorial conditions like autism, autoimmune diseases, or allergies.
3) All PGT-A labs are the same. False. Different labs may use a slightly different methodology, report results differently, and quote different accuracies and limitations.
4) PGT-A provides a result on each embryo. Not quite- PGT-A provides results on embryo samples, or biopsies taken from embryos, but is technically possible that the biopsy that is sent off and studied by the lab is different from the embryo frozen at your clinic. This is a limitation of PGT-A. Currently, there is no way to test the whole embryo without destroying it.

This content is for educational and informational purposes only. This video is not a substitute for professional medical advice. Please contact your doctor or other qualified healthcare provider with any questions you may have regarding medical advice, your condition or treatment.

Chapters:
0:00 Intro
0:37 What is PGT-A?
3:36 PGT-A is not 100% accurate.
4:32 PGT-A does not look for all genetic diseases.
6:42 All PGT-A labs are not the same.
7:38 PGT-A is not a result on the whole embryo.

[katieleecgctalksmiscarriage]

What questions do you have about PGT-A?

[dwightshowman]

If PGT-A is 98% accurate, I don't understand why the success rates aren't much higher compared to untested embryos. For example, our clinic shows 39% Live Births for untested transfer, compared to 54% for tested (euploid) transfers, for our age group, 35-37, yet they also say that aneuploid/ euploid rate is roughly 45% Aneuploid, 45% Euploid and 10% Mosaic. If so, why wouldn't the success rate be much higher for euploid transfers? It's only 15% higher. If euploidy is the most important predictor of success, shouldn't the success rate be more like 70 - 75%? Maybe I'm being a bit dumb here, but I feel like there's something missing!

[itsmericci]

My dr said it wasn't necessary since were both healthy and in our early 30s.. also read that the embryos can self correct themselves

[veruzkatorres]

My husband and I did genetic testing through blood and it all came back normal. Is it still required for me to do PGT-A?

[rossugiarto]

If both parents already went through genetic testing should we test our embryos? I am 39 and from 2 rounds of ivf we only have 2 embryos 1 good and 1 mosaic.

[siancross]

Thank you for making these videos. We had all 7 of our Day 5 blastocysts tested with NGS and we had 1 Chaotic, 1 Complex aneuploid +15, +20, . Aneuploid+19, Aneuploid -16, Aneuploid -16, Aneuploid -18, and Aneuploid -22. We have yet to have our follow up appointment with the IVF Dr which will hopefully be tomorrow. It's our first cycle, I'm 36 (nearly 37 - this month). It's quite a shock for us. We have written out a load of questions but are sort of expecting them not to be able to answer them really. From what I've read it seems like it's probably my eggs that are the problem but I don't understand as we had so many fertilise (13 fert out of 15 mature out of 25 retrieved). 💔💔💔

[rubyzhang]

Hi Katie, thanks for an informative video! My embryo’s PGT-A result came back as didn’t pass QA and non-conclusive. My clinic is suggesting us to thaw the embryo to get biopsy for another PGT-A test. I’m very concerned about this process damaging the embryo. Do you know if it will cause damage to the embryo/how much damage it will cause? Should we proceed with another PGT-A test? Thanks!

[chandranibarai]

Hi Katie,
I have only one embryo frozen, which pgta result shows Monosomy 22. Can this self correct itself? Chances of successfull pregnancy with this?

[sheilagiese]

Hi, I am searching information about PGT because I had my egg retrieval last month, 6 retrieved, only 1 normally fertilized. They did the biopsy for PGT and it came inconclusive result. So they asked me if I want re-biopsy and send again for testing. They offered to instead do another IVF cycle right away. Maybe Im stubburn but I really want to try to transfer this only embryo. And if it doesn't work, I do another round (I know emotionally is not going to be good). I just feel scared of the embryo to be damaged with the thawing process and re-biopsy. Im 39, low AMH. That Embryo was graded 6BB. Could you give me your thoughts? Thank you

[tsizzle]

What about new advances to PGT-A testing such as NGS or NICS testing, and Metabolomics testing on the culture medium of the embryos. Some of these methods are “non-invasive” as they don’t require biopsy of the embryos?

[eshraqsalahuddin]

Hi, my wife had miscarriage ever though the embryo was PGT A tested normal form Igenomix. Form your experience what might have went wrong. Thank you in advance.

[drebg]

Is there any studies on PGTA kids when they get older I’m wondering if the biopsy does any harm?

[criselisabeta]

Hello Katie! We have received the result for Embrace- embryo priority transfer test and it was non informative. It was for an embryo of 2BB quality. I m 40. The rate for euploidy was 32% and this rate was given taking into consideration my age. So, I m confused about this result.Thank you in advance.

[toniasolomon]

I had 6 embyos PGT-A tested.Tranfered 2 got pregnant in 1st cycle found out at 7weeks that it was a blighted ovum pregnancy..I thought that because I got them tested I could avoid this but I guess I was wrong

[happybeesbabyboutique]

Hello, would you recommend transferring a low mosaic -16 ? It's from an AB embryo. I'm 36, 5th IVF, 3 early miscarriages (no sac at 1st scan). Rarely manage to go up to blastocyst stage... I read and was told low mosaic is good but associated with monosomy 16 is too risky

[kitkatthekandybar]

I just realized I always assumed PGT-A and PGS were different for some reason. Whoops!

[llwil]

Beyond miscarriage risk and a faulty chromosome 21 ( Down’s syndrome) is there a danger implanting a mosiac embryo with trisomy or monosomy chromosomes (i.e. disabled child or a child with a “syndrome”)?

[silverliner]

Do you still recommend PGT-A testing? My wife and I only had one embryo that passed out of 5. Dr. from Youtube channel, Center for Human Reproduction, says chromosomes can fix themselves as they grow and says there's little evidence on testing being beneficial. Our embryo that passed did implant, but hcg levels didn't rise fast enough. We are now planning to go through another round of IVF.

[ruthmiriti]

Can one transfer one own egg and donor egg the same time

[gandhiboss]

Hi I had three miscarriages, so I was planned for IVF with pgta..I had 6blastocyst..but unfortunately what happened was ..when biopsy is done the embryo is getting collapsed..now it can't be sent for pgta...my eggs are kept for freezing..I don't know wether the 6 embryos are good or not