Four Misconceptions about PGT-A (Genetic Testing for Aneuploidy on Embryos)
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- Опубликовано: 4 июл 2024
- Check out Katie Lee's website and fertility/miscarriage related digital downloads: www.katieleecgc.com/shop
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 RUclips 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.
What questions do you have about PGT-A?
I have 4 embryos frozen, can I still get them tested ? What are the possibilities of them surviving ?
Can a embryo correct itself?
@@dianafarber1665 Thanks for your question! Evidence suggests that embryos that are mosaic (with some normal cells and some abnormal cells) can "self-correct." The chromosomally abnormal cells are thought to die and the normals cells keep splitting and dividing. However abnormal embryos still have a significantly lower chance of working and higher risk for miscarriage, not to mention other possible risks! Be sure to have a long discussion with your doctor if you have an abnormal embryo.
Hi Katie, thanks for your informative video! My embryo PGT-A result came back as didn’t pass QA and non-conclusive. My clinic is suggesting us to thaw the embryo and do another PGT-A test, I’m concerned it may damage the embryo. What’s your thought on this? Will do a 2nd PGT-A damage the embryo and is it worth going through it again? Thanks!!
Hi Dr, me and my partner are at very initial stage of our IVF cycle, signing of the consenting form, then PGT comes in, I’m lost in the whole thing. I called my Dr. And she said it totally optional. The price is huge, would really appreciate if indeed it needed. I’m 39 and my husband is 48. Help much needed. Thanks
Thanks Katie. This is well explained.
Thanks so much for watching Vanessa.
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). 💔💔💔
Which pgta results you implanted?
@@jasminethomas8615 None of them. Because they are all aneuploid (abnormal).
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
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.
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!
You're not being dumb- these are all great questions. I would encourage you to ask your RE all of these questions and ask how strongly they recommend PGTA. You will hear vastly different opinions regarding the utility of PGT-A depending on the doctor/clinic you see. I think it should be a personal choice and I am glad you are looking into it and considering it carefully. Certainly, age group is a big factor- the older the egg source, the more PGT-A can improve live birth rates. I am glad your clinic gave you some nice specific percentages. In my opinion, a 15% improvment in livebirth rate (and I would expect a significant reduction of miscarriage risk) by transferring a euploid over an untested embryo does drastically improve odds. There are only so many factors we can control for in IVF and there is still a lot left to understand, so if this test can improve live birth rates by 15% that is great. Now, if you are a patient who is only going to make one or two embryos, maybe you want to talk to your doctor about transferring without testing, but if you are expecting a good number of blastocyst embryos, perhaps this ranking tool of PGT-A would help you and get to that liveborn baby faster and reduce the risk of miscarriage which costs time and takes an emotional, physical, and financial toll. I would assume 54% is the average chance for success following euploid transfer at your clinic, but depending on the grade of the embryo (how it looked under the microscope) that the success could go up or down a bit. Most clinics tend to quote a success rate between 50-70% for euploid embryo transfers, but each clinic may stack their numbers a bit differently, so it can be very challenging to compare. You are asking all of the right questions. I would circle back with your doctor and determined whether that 15% improvement of success your clinic provided is significant enough to justify the cost of PGT-A and any perceived risks.
Thanks for your response. Yes, that's what we were thinking. We've only got 2 embryos in total from 3 retrievals, so it does seem a bit pointless. However, our clinic charges PGS in packages, so we paid for up to 8 embryos testing in total, so it's not really a financial cost issue, as we've already paid for another 6 biopsies. What we really are trying to figure out is the real potential for error. Of our 2 tested embryos, 1 was normal, 1 was abnormal. If it's truly a 2% error rate, then probably that's acceptable. However, our clinic mentioned 5%, and I've read a paper from Richard Paulson suggesting anywhere from 0 - 50% margin for error. The reason I mentioned the 39% to 54% difference from our labs stats, is that it suggests that Richard Paulson's figure could be right. I mean, if PGS has filtered out more than half of the embryos (abnormals), why is the success rate with a euploid only 15% higher than with an untested? Now, this may be a totally stupid way of looking at it, but as I see it. We had 2 embryos (untested). Our odds are 39% for each embryo if we don't test, so 78% odds that ONE of them will succeed. If we do PGS, we expect 1 of them (roughly 50% aneuploidy rate) to be normal, the other abnormal. So, our expected odds are now 54% if we do PGS. Our expected odds without PGS are 78%! It seems like PGS is actually worsening our overall odds significantly!
@Katie Lee, CGC Talks Miscarriage and Fertility
@@dwightshowmanI think one thing you completely missed is that if you don’t test there’s a chance you could have a live birth of a child with Down syndrome.
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
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.
We have an aneuploid -4 and complex aneuploid -16, -18. Is there any chance of a successful pregnancy if we transfer them? Our fertility specialist says no.
We also have a low mosaic aneuploid +8, which she is willing to transfer. What are the chances of this succeeding?
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”)?
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?
Yo T-Sizzle. This is a great comment. I am planning on doing a video on non-invasive testing utilize culture media. I think it's awesome that tech is improving and that non-invasive testing (which is less expensive and eliminates the risks associated with biopsy) is becoming available. However, we still have a lot to learn as a community about how accurate the non invasive testing is- how much more or less accurate is it than testing on the trophectoderm cells from the embryo biopsy...we are yet to find out! Non-invasive PGT-A is a test I might think about for myself if I ever needed IVF, but this is based on my age and other factors unique to me.
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
Hi there, what happened, did you implant? All the best x
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
Please are you pregnant with the 6AA ?
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?
Do you still recommend PGT-A testing? My wife and I only had one embryo that passed out of 5. Dr. from RUclips 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.
I am so sorry to hear that your transfer worked but didn't result in an ongoing pregnancy. PGT-A isn't for everyone. I would definitely talk with your doctor about the benefits and risks of PGT-A. There is evidence that if mosaicism is observed in an embryo sample, there is a chance that the embryo could result in a healthy-appearing newborn. Unfortunately, mosaic embryos also have a significantly lower chance of implanting and a higher risk for miscarriage compared to chromosomally normal (euploid) embryos. Completely abnormal resulted embryos probably have a very low chance of resulting in a healthy ongoing pregnancy, based on data so far, but there is definitely still more to learn.
I’m struggling so bad with the decision to do PGT-A testing once we start IVF. I have been researching and watching videos such as yours. And I understand it’s not completely accurate but I’m not worried as much with autism or Down syndrome or anything like those things. I’m worried about miscarriages. It just seems so irresponsible to go through IVF without doing it. It’s feel financially irresponsible and emotionally irresponsible. I am nearly 33 and have been trying to convince with my husband for 3 1/2 years. No miscarriages. Doctor has advised against the testing. I’m so torn!!!!! But also doesn’t help that it’s $4,500 urghh
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!
This is happening to me now. Did you get a good result after the embryo was biopsied the second time? Thank you
Don’t do it!
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
What is a blighted ovum pregnancy?
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?
Hi, did you get any input on this?
I just realized I always assumed PGT-A and PGS were different for some reason. Whoops!
Soooo many acronyms that just keep changing, it is hard to keep track! Thanks for watching!
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.
Hi there! Igenomix has lots of genetic counselors on staff to talk about your results in detail for no charge. Go to igenomix.com and schedule your genetic counseling consult.
Is there any studies on PGTA kids when they get older I’m wondering if the biopsy does any harm?
The biopsy is from the outside. Not the clump of cells in the middle (which is what later forms the baby).
I’m confused, is genetic testing separate from pgt? Am I okay to only get pgt or do need to do a separate genetic test
Hi Validyk- there are hundreds of different types of genetic tests available, but PGT-A is a type of genetic tests, specifically a test that looks for large chromosome errors in embryos that are created with IVF. There are also other types of genetic testing that patients do using their own blood rather than testing embryos- things like carrier screening and karyotype. I definitely suggest you talk to your doctor about your specific fertility situation and which tests they recommend. For example, I have not done IVF, so PGT-A is not an option for me, but both me and my sperm source have done genetic testing on our bloods in the form of carrier screening and karyotypes.
What is the difference between PGT - M vs PGT-A ? And what is better
PGT-A is the standard form of genetic testing in embryos available to anyone utilizing IVF. PGT-A tests for missing and extra chromosomes which frequently occur in embryos. PGT-M is available when a reproductive couple has a significantly increased risk to have a child with a single gene disease/monogenic disease. This may be known if the egg source or sperm source has a genetic disease and they want to reduce the chance to pass it on or if the egg source and sperm source are carriers of the same recessive disease. One test is not better than the other. They are tests that look for different things.
Hi, We have gone through a couple of IVF cycle in the past and with our recent IVF cycle, we got our PGT-A testing done and here are the results.
1. Aneuploid : del(9)(pter-p 12),+13,del(20) (q11.21-qter) : Complex Abnormal
2. Mosaic : +17 [mos] : High Level Mosaic
3. No Result : Quality Insufficient for Interpretation
4. Aneuplaid : del(1)(q32.3-qter) : Abnormal
Please suggest if we should take a chance of getting any of these embryos transferred which can be converted into a healthy baby.
Thanks
Please talk to your doctor. You have an increased risk of miscarriage or chromosomal disorders (e.g. Down Syndrome, Edwards Syndrome, Patau Syndrome)
Hi did you implant one?
aneuploid -11, -19... should we implant?
Thanks for watching and for asking! While this question might seem simple, there are many factors to consider and different individuals will come to different conclusions? Some things I would ask my RE regarding this results are-
1) Did the lab that ran the PGTA assess for mosaicism?
2) Are both the -11 (monosomy 11) and -19 (monosomy 19) full aneuploid on PGT-A or are either or both mosaic?
3) If the result is mosaic, what are the chances it results in a healthy live birth? If the embryo result is completely aneuploid (with no normal cells identified) what are the chances it results in a healthy live birth?
4) Can I undergo additional retrievals in hopes of chromosomal normal embryos? If so what are my chances of getting a normal embryo? If I can't undergo additional retrievals on my own or with a donor, how risk-averse am I?
5) What are my options for testing during pregnancy if I conceive with this embryo following transfer? What would I do if testing in pregnancy showed the pregnancy was abnormal?
There is a lot to consider here and it definitely warrants a long consult with your provider.
Thank you for asking this question. 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). 💔💔💔
Does PGT-A pick up SMA? If it does, can it be removed for successful pregancy?
PGT-A can only detect large chromosome losses and gains. It cannot read through individual genes to look for errors. Therefore PGT-A cannot detect spinal muscular atrophy (SMA). If there is an increased chance for a patient to have a child/embryo with SMA, there is a test called PGT-M that can be used to look for SMA mutations that run in the family! There is no technology that can remove a disease from an embryo. Rather the testing is used to determine which embryos have the lowest risk for disease and those are transferred preferentially.
Well we transferred a healthy normal pgt tested embryo and when he turned 16 months, found out he actually has 47 chromosomes. He has a rare genetic disorder. I can’t find anyone else this has happened to. How could this happen? 😐
Never mind. You answered my question
Please talk to your embryologist who test the embroy might he can help you to find out your question.
This just happened to us too
@@mimenteestaenblanco really? Is it a rare genetic disorder?
So sorry, I guess nothing is 190% guaranteed... Hope you and your family are OK? x
In pgt-a treatment can we know the gender of embryos
Yes, PGT-A can determine whether there are two X chromosomes, suggesting female sex or an X and a Y chromosome, which would suggest male sex. Discuss with your doctor if you have a desire to have this information included on the results report. Determining sex is somewhat controversial and a minority of IVF clinics ask that labs withhold the sex information from the results report.
@@katieleecgctalksmiscarriage hi hope you get back my messege. Is it fine to transfer low level mosaic embryo? I had failed for my 1st cycle transfer which is euploid,they said that is good quality to transfer then why it failed to implant. Thank you.
Do u suggest these tests?
Im 28 years old. My clinic didnt recommend it.
Hey there! Thanks for watching. It definitely depends on your circumstances- history of chromosome imbalances in previous pregnancies, history of miscarriages, chromosome rearrangements in you or your sperm source, your ovarian reserve, what you would do with information from PGT-A. There is no right or wrong answer. It is a personal preference, but you may want to ask your doctor about why they didn't recommend it to learn more and better understand. I will say that many young patients are not offered/recommended PGT-A because for most young patients the risk for genetic chromosome problems is lower, compared to patients over the age of 35.
I wish we had not done PGTA
Why please? I'm considering it as I'm up in years and want to avoid miscarrying....
@joyA828 why?
@@lah1667 my apologies I didn’t see your question. First round of IVF in 2019 we had to do it for PGT M (known genetic disorder) and the PGTA was included. we found out we had 2 euploid, 2 Mosaic, and 1 positive for the disorder that runs in my family. We were told to discard the 2 mosaics because they would lead to miscarriage or a baby with a disorder. Well just a few months after we were told to destroy the embryos the instructions were changed, no one ever updated us on the change in language.
We transferred one of the euploid and had a beautiful baby girl, we transferred the next euploid and became pregnant with a boy, we ran an amnio for the single gene disorder in my family because there was about a 10% chance they could have missed the error. we were deprioritized for a microarray on the amnio fluid because of the euploid PGTA results. Our baby died on his scheduled due date. Turned out he had a chromosomal disorder that did not show up in the 5 cells that were biopsied from him as a embryo. We then found out that PGTA does not improve the chances of avoiding a baby being born with a chromosomal disorder. The same percentage of babies are born with disorders whether PGTA was used or not. The biopsy is only from the part of the embryo that forms the placenta, not the baby. Then we found out the 2 mosaics that were discarded in 2022 could have actually resulted in a healthy live baby. They sat in storage for 2 1/2 years after the recommendations for mosaics had changed, no one updated us at any time. We would have kept them had we known. We were devastated at the loss of our son and traumatized by the misinformation. Now here we are again, another round of IVF, no choice but to do PGTM, 2 affected embryos and one with a segmental duplication. We were given genetic counseling that again would lead to the destruction of our one unaffected embryo. We turned to a 3rd party non affiliated genetic counselor. Turns out, the one with the segmental has an 85% chance that the duplication doesn’t exist in the rest of the embryo, so only a 15% chance it does. It is the only embryo we can use. So all PGTA has done is traumatize us all over again. We chose to transfer our embryo and hope for the best, but be prepared for the worst. It was a long fight but we are hoping this little embryo defies the PGTA results and becomes a healthy baby.
@@Iamreeze my apologies I didn’t see your question. First round of IVF in 2019 we had to do it for PGT M (known genetic disorder) and the PGTA was included. we found out we had 2 euploid, 2 Mosaic, and 1 positive for the disorder that runs in my family. We were told to discard the 2 mosaics because they would lead to miscarriage or a baby with a disorder. Well just a few months after we were told to destroy the embryos the instructions were changed, no one ever updated us on the change in language.
We transferred one of the euploid and had a beautiful baby girl, we transferred the next euploid and became pregnant with a boy, we ran an amnio for the single gene disorder in my family because there was about a 10% chance they could have missed the error. we were deprioritized for a microarray on the amnio fluid because of the euploid PGTA results. Our baby died on his scheduled due date. Turned out he had a chromosomal disorder that did not show up in the 5 cells that were biopsied from him as a embryo. We then found out that PGTA does not improve the chances of avoiding a baby being born with a chromosomal disorder. The same percentage of babies are born with disorders whether PGTA was used or not. The biopsy is only from the part of the embryo that forms the placenta, not the baby. Then we found out the 2 mosaics that were discarded in 2022 could have actually resulted in a healthy live baby. They sat in storage for 2 1/2 years after the recommendations for mosaics had changed, no one updated us at any time. We would have kept them had we known. We were devastated at the loss of our son and traumatized by the misinformation. Now here we are again, another round of IVF, no choice but to do PGTM, 2 affected embryos and one with a segmental duplication. We were given genetic counseling that again would lead to the destruction of our one unaffected embryo. We turned to a 3rd party non affiliated genetic counselor. Turns out, the one with the segmental has an 85% chance that the duplication doesn’t exist in the rest of the embryo, so only a 15% chance it does. It is the only embryo we can use. So all PGTA has done is traumatize us all over again. We chose to transfer our embryo and hope for the best, but be prepared for the worst. It was a long fight but we are hoping this little embryo defies the PGTA results and becomes a healthy baby.
You pay bunch of money to find out the chromosomes and that even Dosnt matter for healthy pregnancy
'Phil and alex' apparently implanted a number of embryos that resulted in miscarriage. The last one that they pgat tested implanted and they had a baby. I don't like the invasive nature of the test but it could help you avoid multiple miscarriage and waste time by directly transfering only embryos that pass the test.