PGS results are not reliable, word of caution (own experience+literature)

liljoy-2 · April 2017

Hi ladies,
I feel compelled to share my experience with you because I think it has so many ethical and emotional implications. Of course, it is ONLY my experience and it may not extrapolate, but I still think it is very relevant. I had a bunch of blastocysts and did PGS because I wanted to avoid m/c or Down's (over 35). Only a couple returned normal, but the results had a few things that puzzled me, and since the alternative was to discard the embryos, I decided to retest instead, with a different lab (after also reading articles about abnormal embryos being implanted in Europe and developing normally or retested with different results). Guess what?? More returned normal, PLUS the rest of abnormal ones had totally different abnormality profiles.

So I'm sitting here thinking, how many normal embryos are killed each day after PGS results? How many women who can only produce one embryo that turns out abnormal end up unsuccessful just because of throwing away the embryo? This technology is only experimental, the labs either make awful mistakes OR the embryos are mosaic and good cells may exist that can then lead to self-correction in the embryos. Playing God is awful and heartbreaking. I still don't know what to do with my "abnormal" embryos in this case because I definitely don't trust the results anymore..

Ash_SE · April 2017

Which labs did you use? What results were bad that turned good?

funkykey · April 2017

@liljoy - thank you for posting - this is great advice, and thought-provoking.

I'm also sorry you're in this position. The second lab, even though more were returned normal, did it confirm the normalcy of the ones that had been deemed normal with the first round of testing? I guess I'd start with those, and then (if they didn't take) work my way through all the "abnormal" ones.

The other day, I was reading about Louise Brown and the team who developed IVF (Roberts and Steptoe). Apparently, they tried 100 times before she was born. I think often about couples trying to conceive 40 or 50 years ago - before they new how to isolate an ovum, before the IVF technology was developed. Reading about them, I thought about the women who volunteered to give Roberts and Steptoe their eggs, in the hopes of conceiving, who never managed to conceive. I am so grateful to those women for their sacrifices, and so grateful that we live in a time where we can turn to IVF.

That said, with PGS, we are not so different than those women, 50 years ago - with a lot of IF, actually. It's crazy to think how little they know, and how much there is to learn, and that we are actively paying for (largely) experimental treatments.

QsMadd · April 2017

This is very interesting to me. Now that we have had one round of IVF and it was somewhat of a success (**TW no heartbeat has been detected and I'm 8.5 weeks tomorrow, d&c scheduled for friday**end TW), my doctor has been heavily suggesting pgs testing for our next cycle. I'm only 33 and my AMH is normal, so my husband and I have been trying to decide if we really need it. We will be doing chromosomes *TW on the d&c **end TW, so I guess that will also play a factor in our decision.

But this is something I will definitely look into more. It makes me wonder how precise these tests are....especially for how expensive they are. Thank you for sharing this.

liljoy-2 · April 2017

@Ash_SE The bad results that turned good were trisomies (with 96% certitude). Other differences were monosomies instead of trisomies, etc. Very different. Both labs are top notch and in-network with insurance, one on West Coast and one on the East Coast..

2legbaby · April 2017

@liljoy I asked my RE about this as we had two cycles of ivf with my own eggs and had no normal embryos with PGS. The mosaics and self correction are from embryos tested in day 3 when there are very few cells...in theory (per my RE) once you get to a 5 day blastocyst (when our embryos were tested) the cells are what they are and there won't be any autocorrection. That being said, most tests are not 100% accurate so there is definitely a chance that sampling could produce false positive or false negative results with PGS at 5 days too

What did your RE say about the discrepancy between the two labs?

liljoy-2 · April 2017

@2legbaby My RE is puzzled and said they were either mosaic or the lab methods differed.

Some REs still believe day 5 can be mosaic (interesting to also read his replies in the comments):
https://drgeoffreysherivf.com/pgs-in-ivf-are-some-chromosomally-abnormal-embryos-capable-of-resulting-in-normal-babies-and-being-wrongly-discarded/

This paper also insists day 5 biopsies are not relevant because cells are from what will develop into the placenta (thus the exterior), and abnormal cells at the exterior don't count: https://www.centerforhumanreprod.com/fertility/possibility-selectively-transferring-embryos-preimplantation-genetic-diagnosis-pgdpgs-determined-chromosomally-abnormal/

This also supports the same argument ("Dr. Vidali (and his wife), personally, experienced an IVF cycle in which all embryos were declared aneuploid, only to learn upon repeat analysis that 40% were found to be chromosomally normal (euploid)." https://www.24-7pressrelease.com/press-release/transferring-allegedly-chromosomally-abnormal-embryos-comments-on-todays-article-in-the-new-york-times-by-kira-peikoff-422079.php

Here are cases about successful abnormal embryos (more cases are from Europe and Israel in the above link) : https://www.preventmiscarriage.com/documents/Live-births-of-3-normal-neonates.pdf

Either way, it is clear mine were either mosaic or the labs made mistakes.

2legbaby · April 2017

I think it is good to factor this in before deciding whether to do PGS for others doing ivf , but sorry that you now have to deal with the confusing results @liljoy ... nothing can just be straight forward in this process!

rainbowwishes5 · April 2017

This is very interesting. Thank you

[Deleted User] · April 2017

I was wondering about the same thing. Very interesting to hear about your differing results, and fx for better things to come! It also may empower me to do that too (i.e. retesting with a different lab), depending on our hypothetical results. :) so thank you!

Hopeful_mom · April 2017

liljoy this has got me thinking alot thanks for sharing!!! I actually called my DR to make sure they didn't discard my abnormal embryos just yet. I'm not saying they were all wrong but apart of me still thinks one was normal. I've always been torn on PGS and this makes it more so. I wonder about the blasts that make it to blast but not the stage that it can be frozen. Since I'm doing the testing am I losing normal embabies.

I'm wondering if part of the problem is that my embryos do better in the womb then outside. For example, if I wanted to do a transfer with an embryo that couldn't make it to the necessary stage needed to be frozen, could that embryo make for a viable pregnancy. Some things I've read say that the blastocyst has to get to a later stage to be frozen because an early stage blastocyst won't freeze. Am I losing normal embryos that might be able to thrive if placed in my uterus and just aren't strong enough to freeze. I had a normal embryo before so its frustrating to think I cant get one again!

QsMadd so very sorry to hear of your loss!! Hoping you can get some answers. Wishing your heart, body and soul heal quickly.

liljoy-2 · April 2017

@Hopeful_mom The day 2/3 vs day 5 is another separate question, and I also know from experience RE's opinions differ on this too....So, it's still up in the air and probably impossible to get a definitive answer. Unlike the PGS testing, which in time I'm sure will perfect. But now, it seems to be too experimental to fully trust it. I think the reasonable compromise, at least in some cases, is to still PGS test and then decide what to do. This way, you can avoid clearly risky embryos such as Down's and Edwards'.
It also depends on the reason one opts for PGS. Is it to try to rule out m/c (in which case avoiding anything abnormal makes sense)? Is it to rule out Down's? Is it because one has too many embryos and wants to decide on the best? Etc.

tahini · August 2017

I am considering retesting and was wondering if you could share specifically which test(s) you used and if the re-testing was using the same test only different equipment? We used NGS through reprogenetics and I'm just trying to discern what would be a good second choice. Thank you for sharing your experience, is is very helpful.

liljoy-2 · August 2017

@tahini Hi, yes, both were NGS PGS tests on 5-day blasts. The retest was with Igenomix.

tahini · August 2017

Thank you, that's very helpful!

cseley321 · August 2017

Thanks for posting this. My doctor has been pushing for PGS as well and I wouldn't have even thought to question the results

liljoy-2 · November 2017

Here's news about what I've been saying. Now Doctors in US start speaking up that PGS testing is NOT accurate and can lead to so many healthy embryos being discarded.
https://www.endonews.com/efa.mc.2017.the-abnormal-embryos-that-arenttens-of-thousands-of-women-thought-they-couldnt-have-babies-but-what-if-they-could.dr.-norbert-gleicher-dr.-monica-halem?utm_content=bufferfe87d&utm_medium=social&utm_source=facebook.com&utm_campaign=buffer

dragonette505 · November 2017

liljoy-2 said:

Hi ladies,
I feel compelled to share my experience with you because I think it has so many ethical and emotional implications. Of course, it is ONLY my experience and it may not extrapolate, but I still think it is very relevant. I had a bunch of blastocysts and did PGS because I wanted to avoid m/c or Down's (over 35). Only a couple returned normal, but the results had a few things that puzzled me, and since the alternative was to discard the embryos, I decided to retest instead, with a different lab (after also reading articles about abnormal embryos being implanted in Europe and developing normally or retested with different results). Guess what?? More returned normal, PLUS the rest of abnormal ones had totally different abnormality profiles.

So I'm sitting here thinking, how many normal embryos are killed each day after PGS results? How many women who can only produce one embryo that turns out abnormal end up unsuccessful just because of throwing away the embryo? This technology is only experimental, the labs either make awful mistakes OR the embryos are mosaic and good cells may exist that can then lead to self-correction in the embryos. Playing God is awful and heartbreaking. I still don't know what to do with my "abnormal" embryos in this case because I definitely don't trust the results anymore..

This sort of thing is one of the reasons Ive decided to take my chances... I posted these articles on my infertility insta because I feel like its important for people to know who is the appropriate group for testing: IE If you have a TON of embies, you are better off testing...even if you get some false negatives, you will likely have sufficient positives. But with women with fewer embies, we could be chucking out our only chances for a baby with your own eggs...I know it may still not work for me, but I'm giving my eggs a chance
https://www.thecut.com/2017/09/ivf-abnormal-embryos-new-last-chance.html
https://www.centerforhumanreprod.com/fertility/transferring-supposedly-chromosomally-abnormal-embryos-ivf-cycle/

liljoy-2 · November 2017

@dragonette505 Yep, that's very wise and important. See, we are our own advocates and sometimes it pays off. My RE said she "learnt something new" with my experience. I'll give all my 3 "normal" embryos a chance one way or the other, but won't want to discard the "abnormal" ones either. I think I might want to keep them just in case in the future the science will clarify their status. I'd rather donate them than throw them away.

safire3 · November 2017

All of this is why I declined PGS testing. With my DOR we were not expecting many eggs already and I couldn’t bear the idea of throwing any away if the science behind it is questionable. My RE pushed for it initially then when I told him my concerns he agreed with me that we did not need to do it. This is one of the articles I saved on it.
https://ovarianresearch.biomedcentral.com/articles/10.1186/s13048-017-0318-3

dragonette505 · November 2017

@liljoy-2 @safire3 it amazes me how much scientific legwork we have to do for ourselves!

Ellee.DPT · September 2018

Would you mind sharing who the other lab was. We had our testing through cooper genomics. Only one "normal" embryo which turned into a blighted ovum pregnancy (genetic abnormality). So I am now really questioning the results. I am waiting to hear if my other embryos have been discarded. The more I'm reading the more I am thinking this is all psuedoscience. If they haven't been discarded, I'm not sure if I should retest or just see if we can give them a try.

ladyp0tter · July 2019

I'm bringing this thread back to life because of what I am going through right now. I think it is important for women who are being told to do this test should be informed. I am NOT saying that my results are wrong, as at my age, likely most if not all my eggs aren't great....but I truly thought I would have at least 1 good one. I am hoping my indeterminate one is, but I am just not willing to risk it by retesting (thaw, rebiopsy, refreeze, thaw, fet).

I will take my chances this time around. If I do another IVF, I will do PGS again just because of my age, but I won't be as one-sided in the results.

sarahroses · November 2019

Hi, just came across this clinical trial at Stanford. They are implanting aneuploid and mosaic embryos. It's really interesting https://clinicaltrials.gov/ct2/show/NCT04109846

ladyp0tter · November 2019

@sarahroses - yes! I just did that in my last round. My doctor agreed after I had genetic counseling, so I put in one abnormal one (Trisomy 11) and one indeterminate one. Unfortunately, neither stuck, but it was worth a shot out of 7 embryos tested, not 1 was "normal"...

suzycupcake · November 2019

Chiming in here... all of our 7 embies tested aneuploid by CG in October 2018. I chose the first A grade from the list and transferred on 11/30. He was tested as XYY. We have a healthy 12 week old who is thriving. Some could argue he only had an extra sex chromosome. Okay but thousands of people would’ve made the decision to discard him and my story amazed the shit out of a leading fertility specialist.

Someone inboxed me here awhile ago to ask about it but I missed it not logging in here in quite some time. She asked if I tested again during pregnancy. I did not because I knew it would not change my mind or change the course of my decision making in pregnancy. He passed the AS with flying colors.

Next time, I will choose the next grade A from the list (mosaic trisomy 13) and transfer without abandon. The thing I most want to impress upon you ladies is that PGS testing is not pseudoscience. What they are doing is biopsying a few cells out of hundreds and from the part that only becomes the placenta. They cannot biopsy from any part that becomes the actual baby and even if they could, abnormalities can still correct themselves in utero.

For 30 years, we’ve know that we can place the placenta under a microscope and find islands of chromosome abnormalities having nothing to do with the baby that was just born. And so it makes sense that different labs result differently.

It was an extremely difficult decision and caused great anxiety for us. I will never regret making it even if it had not worked, but at the same time, I know that I wouldn’t be saying the same thing had it not worked. My heart goes out to anyone in the same shoes.

31magnolia · November 2019

@suzycupcake Thanks for sharing!!

suzycupcake · December 2019

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PGS results are not reliable, word of caution (own experience+literature)

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