IVF/PGT but risk of Edwards

[Chunk23]

Hello
this is my first time posting here so hopefully I’m doing it right. I just wanted to know if anybody had any similar experience they could share, as my case seems to be incredibly complicated and unlucky.
I had a ‘euploid’ embryo transfered in may. I’m now 16 weeks pregnant. Our 12 week can flagged a high NT. We were then referred to fetal medicine. Our scan yesterday showed the NT has resolved and currently there are no other markers that could indicate a problem.
After speaking with my fertility clinic yesterday we were informed that the embryo infact had a ‘partial duplication’ of chromosome 18. But this wasn’t apparent on all cells tested. We were then told it was a ‘mosaic’ embryo. Had we been informed and given the choice, we wouldn’t have transferred a mosaic embryo, but I haven’t been given additional information on whether this means the baby is definitely affected. My amnio is on Monday. And that’s the only way to know for sure. I just thought I’d post here as I feel like the only person on earth to have had a pgt tested embryo with a potential to give me a baby with Edwards syndrome. Is there any hope? Is there a chance it corrected itself? Sorry for long post, just feeling lost 😞

Hey, no experience but I didn't want to read and run. We went through IVF but without embryo testing, so I don't know much about the ins and outs. Regardless of the outcome, if you feel your fertility clinic did not give you accurate information about the embryo you transferred, I would encourage you to report it to HFEA so that others are not put in the same position as you.

It seems a very unique case, so I do hope you can get some clarity after your amnio

Hey, Thankyou for your reply. My mind is absolutely blown as to how any of this was allowed to happen, behind our backs. We have been completely mislead as far as we are concerned. Obviously we need the amnio for confirmation, but I will certainly be reporting this. X

I'm sorry you've been put in this position. I also can't understand how/why they wouldn't have been clearer about the potential risk of Edwards syndrome in your embryo. Hoping you get some answers soon

I'm sorry you've been thrown into this uncertainty - I hope the amnio gives you the all the clear!

And there is a good chance it will, because pgt only takes very very few cells of the part that will become the placenta, and there's always a chance that they don't represent the fetus well at all or that things self-correct as the embryo develops. In short, the whole thing is definitely not an exact science! For example, my clinic only gives an accuracy of 90% for pgt, and 99% for pgd, and they consider an embryo to be euploid if at least 80% of the sample has normal chromosomes. Different clinics may well have different cutoffs for what's normal v mosaic v unacceptable.

But, they definitely should have been up front with you about these things and given you all the information before transfer.

It is a controversial area, and there were accusations that “normal” pregnancies were being unnecessarily stopped due to decisions not to transfer.
there is a thing called “confined placental mosaicism” where the embryo is normal, but it is difficult to identify.
i am guessing that this was the “best” embryo available for transfer as they would have chosen an alternative if possible.
i had a similar situation, and chose to transfer the possibly abnormal embryo as it was the only one I had. Despite getting pregnant and seeing a heart beat, then miscarried at 8 weeks. (40 at the time, poor reeerve)
information at Mosaic embryos

I had a mosaic embryo transferred, because i had no others left. Amnio test was stressful, but everything came back clear. According to new studies, mosaic embryos have exactly the same chance of a healthy baby/pregnancy as an normal embryo as they self-correct. Of course it can go either way, but don't let this discourage you. They transfer mosaic embryos all the time (with parents' consent of course). We have had an extensive genetic counselling explaining the risks to us prior to the transfer.

As far as I understand, partial segment duplication/deletion ranks embryos as low-mosaic (what we had). So chances of it self-correcting should be quite good.

Thanks all for your replies! Unfortunately we weren’t given any additional information on our embryos other than that they were both ‘euploid’ the genetics report from cooper states at the bottom that they don’t disclose mosaic embryos, and anything under 40% is still classed as euploid, although when my clinic rang me they informed me it was a high level mosaic. Nobody told us this prior to transfer, and had we known, we may not have had it transferred. And to add insult to injury, the clinic went on to tell us that the other embryo we currently have in storage had 100% normal cells but they didn’t know this until they asked the lab in London 🤦🏻‍♀️
just seems like we’ve been lead down the garden path and are now facing further testing.
its encouraging to know they can self correct, and can only be subjected to the placenta, hopefully this still applies to such a major trisomy like Edwards ?
im touched by everyone’s support here Thankyou X

this is outrageous actually, i would definitely complain to the clinic and demand a refund of sorts..... things like that most definitely require a patient's informed consent.... i would question this clinic's professionalism for sure....

just focus on the positive for now! if something was terribly wrong with the embryo, it would self-abort by now most likely. if its going well so far, means most likely everything is fine.

i would request a full array of genetic testing for your amnio test. they can test for that specific chromosome and they can also do a full array (testing all chromosomes). takes a week longer but you will have a full picture. hope all goes well for you!! <3

It looks like we will have to wait for amnio results for any further information, we are being passed from clinic to lab, and nobody will show us the genetics report. We absolutely would not have given consent to transfer this embryo but were never given the choice.
holding onto the fact that the baby has stuck around this long and other than the previous raised nuchal, he does appear normal so far. This is a very long journey x

Hey everyone just thought I’d update here - my results came back today and they are all clear 🙏🏻 just need to get through the echocardiogram in a couple of weeks 🙏🏻

@Chunk23 glad your results came back as clear. That must be a huge sigh of relief.

That’s great everything came back ok x