| We’ve been out of the game for awhile. Currently 38, had our first successful IVF cycle at 31 (after 3 failed IUIs & 2 failed IVFs). Then had a ‘surprise’ 3 years later. We’re finally looking at transferring our last frozen embryo. It was frozen when DH & I were 29. We’re trying to decide if PGS is worth the extra cost - we didn’t do it in the past, but our IVF son does have a brain malformation and a genetic duplication of unknown significance (that apparently cannot be found even with testing). Doing it would potentially minimize having 2 children with special needs, or possibly not since so much can happen in utero. Everything is out of pocket this time around, so weighing the cost of testing as well. Any thoughts? |
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you should talk to a genetic counselor - the brain malformation may not have a genetic component and the duplication may also not be picked up by PGS. They may recommend you do karyotyping instead.
Since the embryo was frozen when you were way younger it has a better chance of being PGS normal - that does not mean totally normal however and that's why a genetic counselor consult is so important. |
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Agree with the PP to talk to a genetic counselor and also consider the sequence of thaw-test-refreeze and how that impacts the embryo quality.
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OP here. We’ve done genetic counseling. The brain malformation occurs during utero, no known genetic marker. The duplication will not be picked up with any testing they can do. We would just be looking for other abnormalities to minimize the chance of having more than one child with special needs. |
Do you just mean that it might not survive the process, or could it be damaged from all of that? |
NP. Unfortunately I think the answer is both. |
Right. We did PGS a few years ago (with fresh, unfrozen embryos) and I can’t recall all the details but I remember being educated about and signing paperwork explaining the potential risk of the PGS biopsy and freezing process. There was a chance it would damage the embryos perhaps irreparably so. What OP would be doing is more intense since the embryo would have to survive an initial thaw for biopsy/testing, then a re-freeze and second thaw for transfer (assuming testing results are okay). |
Another NP. We thawed and tested 6 embryos a few years ago. I was 36 at the time the embryos were created. 3 of them did not survive the process. The others survived and were PGS normal, but all the transfers failed, and I often wonder if the freeze-thaw-test-freeze-thaw-transfer process didn't cause an issue there. We were told at the time that we were just incredibly unlucky that half of our embryos didn't survive. Maybe that's true (I know plenty of women who have not lost embryos during a thaw for testing), but it was a pretty bitter pill to swallow, to say the least. |
PP back to add that we did have one live birth from the initial cycle when I was 36. The very first transfer worked. |
| If you only have one embryo to work with, I would 100% transfer it without testing. Good luck. |
| I don't think so. It's a risk to the embryo and you only have 1. Also, I think the price is the same for up to 8 embryos and generally they are testing for chromosomal abnormalities, not the full panel of genetic disorders (although you can ask them to test for specific known genetic disorders). You can always do the genetic testing at 10 weeks, which is covered by insurance more often than PGS. |
Are you sure the genetic deletion couldn't be picked up with PGD? That is different from PGS/PGT-A in that it looks for a specific mutation when there is a family history of a genetic mutation, typically. But in your case, I don't know if it's worth it for one embryo. I would let the genetic counselor advise on odds and decide from there. |
If it were me, I would transfer the one embryo you have and then plan on an amnio later. I believe amnios pick up more issues than cell-free DNA tests. But I would be willing to have an abortion if I found out I was carrying a fetus with a serious abnormality. When I did IVF, I definitely lost some embryos during the PGS process, but I can't remember the numbers. |