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Genetic Testing


Mackenziebaby1

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Mackenziebaby1

Hello. My partner and I have just done our first egg collection and are now deciding on whether or not to do the genetic testing. We have two good grade eggs and are leaning towards getting genetic testing done on both because we think this will potentially rule out any eggs that are unlikely to carry to full term. We feel that we would rather not try to carry an egg that has a high likelyhood of not surviving. I do appreciate it's no guarantee. We would be so grateful to hear of other women's perspectives on genetic testing, if it was right for you and what the results meant for your journey. TIA

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sunstarmoon

Hi MB. I’ve done genetic testing with mine. My reasoning were;

1. Transfers cost so much, I don’t want to spend $3k+ to transfer an embryo that won’t even stick/will miscarry

2. I don’t want to get to 12w of excitement and be faced with a decision I do not want to have to make!

3. Wanted to check that genetic issues weren’t causing our infertility

4. Lost time through transferring embryos that had no chance


We got very lucky and had great/very unusually good results from our testing. Of 12 embryos that made it freezing quality,9 were perfect, 1 inconclusive and 1 was a hybrid and 1 was not compatible with life.


Another story, but my really good friend didn’t test (she was 30 at egg collection, so her fertility specialist and husband thought it unnecessary). Transferred 1.5 years ago and discovered at the 11w NIPT she had trisomy 13, so had the stress of tests etc which confirmed. She then made a heartbreaking decision. She’s had to see genetic counsellor, and psychologists. She only just got over it to try again and has been a mess is this new pregnancy, worrying if it will happen again

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It wasn’t an option for us in our first rounds which eventually resulted in ds1. Lots of failed transfers etc


When trying for #2, we did a few failed rounds without pgd testing then decided to do it the next round. The first embryo from the pgd tested batch was successful and resulted in dd1.


For me it felt like a chicken v egg decision. There was no guarantee, it was expensive, but theoretically would minimise transferring embryos which might not have been viable anyway. The emotional toll every time a transfer failed was exhausting. I felt like we were investing in a more positive outcome.


There are no guarantees. But for us, when we finally decided, we were successful. I’m glad we did it.

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Everyone’s experience is different, but personally I wouldn’t PGS unless I had had miscarriages, or repeated implantation failure. Age would probably influence my decision too, and also how many embryos I was able to get.


Preg mentioned


We never tested because I have been under 35 for all cycles, and also because we get fuck all embryos due to repeated fertilisation failure - out of 5 stim cycles, roughly 6-10 eggs each time, we only ever got 4 embryos fertilised - #1 resulted in DD, #2 BFN, #3 Chemical, #4 currently 31 weeks pregnant.


Thing is the baby I’m currently pregnant with would likely have been rejected at PGS - I had a case of confined placental mosaicism, which basically means the fetus came back as positive for trisomy 11 at NIPT, further diagnostic testing showed a genetically normal fetus. Cells in the outer part of the embryo that become the placenta were the only cells affected. This is rare, but there are definitely experts who don’t recommend PGS off the bat.


It also depends on the cost I guess, I was public so only paying around $800 for a transfer (most of mine were fresh transfers anyway). If I had 10 frosties, I’d probably test. But if I only had a couple, was relatively young, no history of miscarriage or repeated implantation failure, I probably wouldn’t bother.


Good luck with whatever you decide ♥️

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I’m not sure of the details but I read that in the budget there is going to be coverage of PGS on Medicare. Which is excellent news!!!


I had PGS to screen for a genetic mutation my husband carried and we also did a general screen. Out of our 7 embryos, 4 were found to be aneuploid and not recommended for transfer (all had different trisonomies) Of the 3 left, 2 carried my husbands mutation and that left us with 1 to transfer. Unfortunately I miscarried and they are testing the fetal tissue to see if there were any chromosomal abnormality that they missed.


I suppose with testing is that you need to get your embryos to day 5 as the first hurdle before you can then test them. The attrition involved is very mentally difficult to handle. I started with 21 day-1 embryos and to end up with only 1 that could be transferred was really hard.


My husband and I are going to try to conceive naturally for awhile because we have decided that we can deal with it if we end up conceiving a child that has the mutation.

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nomviv, you would likely be covered.


But the new funding is for the screening test, and if anything is found they assistance with IVF.


Most of us wont get the funding.

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I think I am also scared that if I test there is a lot of pressure on me when a 'perfect' embryo is transferred.


Seriously after 8 surely one of them was PGS normal but still didnt stick?

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Hi there


I have a slightly opposing view to others. But noting I had no history of miscarriage and small egg numbers (as in one).


From everything I've read and heard, the technology is not perfect AND most importantly, there has been evidence of mistakes at even large, reputable clinics. My friend was involved and the clinic contacted her to tell her they had incorrectly diagnosed and disposed normal embryos...


But more importantly, if you only a handful of embryos, I would transfer. Because the cost of doing a new cycle because your embryos were damaged (either growing to day 5 or during the testing) or incorrectly classified is much more than the cost of transferring them. I'd think differently if I had 10 embryos ... maybe.


See link below for the class action -


https://www.google.com/amp/s/amp.abc.net.au/article/13010682

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Hi there


I have a slightly opposing view to others. But noting I had no history of miscarriage and small egg numbers (as in one).


From everything I've read and heard, the technology is not perfect AND most importantly, there has been evidence of mistakes at even large, reputable clinics. My friend was involved and the clinic contacted her to tell her they had incorrectly diagnosed and disposed normal embryos...


But more importantly, if you only a handful of embryos, I would transfer. Because the cost of doing a new cycle because your embryos were damaged (either growing to day 5 or during the testing) or incorrectly classified is much more than the cost of transferring them. I'd think differently if I had 10 embryos ... maybe.


See link below for the class action -


https://www.google.com/amp/s/amp.abc.net.au/article/13010682

 

That testing (as part of the class action) is completely different to the testing OP is considering.


Not heard of many issues with biopsy testing.

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We did end up doing PGT, but that was after 4 mc and 4 negative transfers. It wasn't mentioned and I probably wouldn't have done it early on, we were in our 2os when we started IVF.


The reason we did it was to see if the embryos were the reason we hadn't had a successful pregnancy, or if it was my body. Similar to a PP we had an amazing result, 11 blasts to test. 8 were perfect, 2 inconclusive and 1 had a chromosomal abnormality. My best round before that I had 4 blasts. Because the embryos weren't the problem we then went for immune protocol, and the next transfer was DD1. I had 3 babies from that batch.


My FS advised against the non-invasive testing which was in the news for being problematic, even though I was at that clinic (she has since moved). Day 5/6 biopsy isn't as risky to the embryo as the earlier days as well because there are thousands of cells by then and they take some after the embryo has hatched.

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I did embryo screening. I was doing IVF because of recurrent miscarriage and age.


We considered it for ages and then had a long chat to the fertility special plus a number of embryologists to make sure it was the right decision for us. My research showed it doesn't improve the overall chances of having a successful pregnancy but does reduce the number of transfers it could take (by preventing transfers of embryos that would never be successful). Given we had been through so many miscarriages and that time was definitely not on our side, this seemed like the best option for us. It added quite a bit of cost on to the process when we did it plus a month of waiting for our results (but this was over Chrismas so took longer).


We did embryo banking and ended up with 3 "normal" embryos. We had 2 abnormal and 2 which didn't get a result. So we potentially saved ourselves the pain of 2-4 failed transfers or miscarriages by doing the testing.


Having said that, our first transfer did end in a chemical pregnancy. Our second was successful though and we have an 18 month old from that transfer.


It is obviously a personal decision, but I am very pleased we did the screening.

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humblebumble

I'm not really up on the genetic testing side of IVF & had we done it & our syndrome was picked up (we didnt know about it until after our last baby was born) we would never had had children as all where the only surviving embryos that made it to transfer & whilst they have a very tough life with multiple life threatening issues they are the most amazing brave little souls ever & I couldn't imagine them not being here & we have learnt so much from their journeys so far! but we do talk about it now had we known would we have gone through it all.


Does anyone know if theres a comprehensive list somewhere of what is tested? If my kids do decide to have their own children they will be seeking guidance from our geneticists but thats a long way away yet & no doubt by then hopefully they have a lot more knowledge about our particular syndrome. I'm interested if it is on the list of what they look for.

x

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I'm not really up on the genetic testing side of IVF & had we done it & our syndrome was picked up (we didnt know about it until after our last baby was born) we would never had had children as all where the only surviving embryos that made it to transfer & whilst they have a very tough life with multiple life threatening issues they are the most amazing brave little souls ever & I couldn't imagine them not being here & we have learnt so much from their journeys so far! but we do talk about it now had we known would we have gone through it all.


Does anyone know if theres a comprehensive list somewhere of what is tested? If my kids do decide to have their own children they will be seeking guidance from our geneticists but thats a long way away yet & no doubt by then hopefully they have a lot more knowledge about our particular syndrome. I'm interested if it is on the list of what they look for.

x

 

have a read here - https://www.genea.com.au/assisted-conception/genetic-testing/pgd-genetic-test


You children would need to have PGD, for known genetic make up.


PGS is what the OP is asking about. they scan for known chromosomal issues.


EFS

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humblebumble

I'm not really up on the genetic testing side of IVF & had we done it & our syndrome was picked up (we didnt know about it until after our last baby was born) we would never had had children as all where the only surviving embryos that made it to transfer & whilst they have a very tough life with multiple life threatening issues they are the most amazing brave little souls ever & I couldn't imagine them not being here & we have learnt so much from their journeys so far! but we do talk about it now had we known would we have gone through it all.


Does anyone know if theres a comprehensive list somewhere of what is tested? If my kids do decide to have their own children they will be seeking guidance from our geneticists but thats a long way away yet & no doubt by then hopefully they have a lot more knowledge about our particular syndrome. I'm interested if it is on the list of what they look for.

x

 

have a read here - https://www.genea.com.au/assisted-conception/genetic-testing/pgd-genetic-test


You children would need to have PGD, for known genetic male up.


PGS is what the OP is asking about. they scan for known chromosomal issues.

 

hehe thank you, as you can see I have NFI but no doubt we'll learn. :P

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Genetic testing was a must and whilst it took a very long time to be completely (going back over a decade now) finalised. I would not not have it done


I should have added that my kids will need to know for the future as CDH can be hereditary

Edited by Pip
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I had so few embryos that I didn’t bother. I wasn’t wasting too much time transferring and then just waiting and seeing. If I had a lot it might have been a different decision.

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  • 2 weeks later...

We were doing IVF because of a genetic recessive we both carry.


A double recessive of this is always fatal.


We had five embryos make it to five day frozen blastocyst but 3 of them had the fatal double - statistically that never should have happened (it's meant to be 1 in 4 chance) but yeah. Two of the ones with the fatal double had additional chromosomal issues that would have meant likely miscarriage. The "just" fatal double means the pregnancy goes fine but losing them around 2-3 years old and I could not do that again.


Different for us though - genetic testing is the entire reason for our IVF. We had our son unassisted before we knew.

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Ilovethebeach

I only had 2 embryos that made it to day 5/6. First one frozen untestrd at day 5 as id been overstimmed and looked like getting zero. Second one made it to day 6, tested clear and miscarried next cycle. Chose to use our untested day 5 she's now a very healthy 4 year old. We also have a strong family history on one side of male high functioning autism, dh, ds and others. We had genetic testing me & dh no identifiable gene. Ivf doc advised us to go to medical board & would get approval to implant only female embryos. Decided against that. I wouldnt swap ds for the world. Good luck.

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  • 6 months later...

Im annoyed at myself for testing recently. And wont my next cycle. 

My frostie had a chromosome deletion. I think I would have been okay to do TFMR if it had of present in NIPT. 

And I wish I had of thought to ask to transfer. But I think it is illegal in Australia? 

 

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8 hours ago, Ozgirl said:

Im annoyed at myself for testing recently. And wont my next cycle. 

My frostie had a chromosome deletion. I think I would have been okay to do TFMR if it had of present in NIPT. 

And I wish I had of thought to ask to transfer. But I think it is illegal in Australia? 

 

That’s the thing that confused me about the article - I thought the PGS and the NIPT were essentially testing the same thing - the placenta DNA /placenta to be DNA? So I was surprised her NIPT came back clear? In any case the only diagnostic testing is amnio at minimum 15 weeks, or sono findings may hint at something earlier. 
 

Not sure if you use reddit but there’s a heap of good reading on the r/NIPT thread! The IVF threads usually get heated when someone asks about PGS vs no PGS. 

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Ah no haven’t looked on reddit. 
 

but the point of the article is that the chromosome issues can correct. 
 

but

she didn’t have NIPT she had CVS testing. 

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We did PGD. We were screening for a particular disease but also did the general screening as there was no point transferring an embryo that was not viable. 

I had 12 day 5/6 embryos tested from one stim round. From memory 6 had the genetic condition, some of those were also abnormal and would not gave been viable, one was abnormal but didn't have the condition and the remaining 5 were free of the disease and normal.

I was 28 when they were collected and they said usually approx 30% would be abnormal for my age. I remember it was about spot on. Same with the genetic disease was a 50% hit rate. 

Of course even PGD normal embryos may not take. 

Transfers 1 and 3 didn't take for me but transfers 2 and 4 are my girls. 

Happy to answer any questions. 

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