please can you share,if you were in similar situ, I had a good 12 weeks scan for PGTed embryo, but the blood test arrives with high risk of Down syndrome 1:88. I was shocked to say the least. My appointment with the doctor is scheduled next week.
how this can be possible? The doctor claims the risk was calculated as the result of my age (43) because other parameters are excellent and she said I need to reply on PGT and scan rather than blood test. . But still this was quite scary to find out that the euploid embryo after PGT may still be abnormal.
Has anyone ever dealt with such situation? I would appreciate your experiences.
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Diana1981
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I can't relate in exactly the same way as my embryos weren't tested, but I got a 1:14 chance of the baby having downs syndrome after having the quad test (baby was already too big for them to do it by looking at the scan) but they base it on several different factors, and it's not an exact science at all. and 1:88 chance is still super low even though it's classed as high chance, it's really not. If 88 pregnant people were in a room together, only one would have a baby with downs, and with it not being totally accurate, it's probably an even lower chance than that.
I know its a stressful time being in the unknown waiting period, but while I was waiting a couple of weeks for my results I had mentally come to terms with the fact that the baby might have DS, and did loads of research, found some Facebook groups that offer support to women in my situation, and that really calmed me down a lot. PADS (positive about downs syndrome) was particularly helpful and helped me see that it really wouldn't be the end of the world, they may just need a bit more medical help at the start.
I did the NIPT which came back low chance. My partner and I had also already decided that if that came back high chance then we wouldn't do the invasive tests, as it wouldn't have changed anything for us anyway so it felt like a big risk to the baby doing the invasive test x
I am 39 (38 when pregnant) and my test came back 1:150, I was shocked as didn’t expect it to be as low. When I spoke to the hospital they said that my age & the fact that I had low Papp-a reduced the numbers greatly. As soon as you put age into the mix you’re knackered 😂 it’s all done on algorithm, so the fact that you had PGT testing done should be all you need to know everything is well. If you are still concerned opt for an NIPT which I did for peace of mind - wishing you a healthy pregnancy x
Thanks a lot. I’m going to discuss the NIPT and do it asap. My first child (conceived naturally 10 years ago when I was 33) has autism and I know what it is to raise a kid with special needs.
Hi. not in the same situation as you because my pregnancy was spontaneous, but my story could be helpful to you. I was told at my 12 week scan that my baby has a high risk of Down syndrome, 1/10. I am 41 years old. I refused all further testing, except for scans, as I knew my baby just wanted to come into this world regardless. On 03/01/25, I gave birth to our healthy and perfect baby girl. She is simply amazing. Don't take everything doctors say to heart and trust your own intuition. Good luck.
When I had my first son naturally age 27 my results were 1 in something ridiculously high that I wouldn’t have been dreamed of worrying and so knowing for this pregnancy that I was going into the test (both blood and scan) with a PGTA tested embryo I expected the chance to be the same; these had already been ruled out because the embryo was chromosonally normal . But, the result was significantly lower 1:5000 if I recall. I kinda just put it down to the NHS sending the results out on generic markers and less science.
All scans etc since have gone perfectly - at 39 weeks just waiting for him to arrive ⏰
Hi, I had the exact same thing. My PGT-A tested embryo came back high risk for Downs after a good scan. I was later told by he hospital that PGT-A testing is far more superior and I shouldn’t have had the screening test done in the first place it was always going to show high risk because of my age (39). After this I opted for NIPT to put my own mind at ease- it is very accurate for Down syndrome- but again it wasn’t necessary just something I wanted to do to make sure- came back low risk. I’m sure you will have the same if you decide to go ahead with it. X
Thank you Reka. My doctor has mentioned that the high risk is related to age and that I meet to rely on PGTA. But I’m still worried and going to do NIPT.
Exact same thing happened to me. I was 41 at the time the egg was frozen and tested. My son was born healthy 6 months ago.
The midwife wt the NIPT test explained to me that the blood test for downs etc is based on an algorithm rather than anything to do with the blood test itself and that it would have been calculated based solely on my age.
Which made me go from blind panic to rage.
My fertility clinic doctor ended up putting in a complaint about it because he said that woman who had undergone fertility treatment and had their embryos tested should never get the blood screening as the PGT is more reliable than that test so it is unnecessary and causes undue stress for mum.
I hope that puts your mind at ease and good luck with the rest of your pregnancy x
hey I had 1:144 chance as I am 42 and my HCG was high. Everything else was fine. I thought it was anything under 1:150 that was high risk? Ie you aren’t high risk? Anyways might be different in different council areas but we then did the NIPT at the hospital and that all came back low risk so would recommend doing that next but the age factor does greatly push up the odds for us older ladies whether the embryo is tested or not it’s just an algorithm that doesn’t account for anything to do with IVF or PGTA. What it does mean is a free NIPT on the nhs though if they put you at high risk from the algorithm so that should set your mind at ease hopefully as it’s much much more accurate and based on the babies DNA in your blood, rather than just a computer prediction, especially as you’ve had PGTA testing too. I had a nervous week or so waiting for the 2nd set of blood results so I feel for you but I’m glad I had the additional testing now actually 💜 xx
Yeah I wasnt going to have the invasive one as their is a risk to the baby and even if it had downs I was likely keeping it but the accuracy of the NIPT is really high and I also had a private scan where they checked the nasal bone, heart chambers and femur length for me due to the high risk original algorithm while I was waiting in the NIPT results and as these were all normal together with the baby neck measurements it really put my mind at ease! With low risk on the NIPT my health board wouldn’t consider invasive testing anyways so I would have been going against their advice for that hopefully NIPT all good and you can move forward with confidence soon 🤗💜 xx
Yes, the genetic and my doctor are against an invasive test as they say it’s not justified as all parameters (apart of age) are normal. But they said if I really insist they will consider my wish. I’m with a private clinic but they are regulated by the state and said they won’t do anything against the usual state protocol.
Also just noticed what forum this is on you might want to join the fertility network pregnancy forum on here where there are many discussions like this one and others for people pregnant following fertility treatment and as you go forward it’s really helpful and we are meant to stop posting on this forum after the 6-8 week mark as this is for the ladies at the treatment stage 🤗💜 xx
Unfortunately PGT-A is not 100%, they only choose about 10 cells out of a total 1000. And only from the Trophectoderm (placenta) , not the Inner CELL Mass (baby).
If they only pick euploid cells, it will show as euploid, regardless if there are chromosomally abnormal cells present.
There could be normal cells in the placenta but the baby abnormal (highly unlikely, the abnormal cells are usually placed into the Trophectoderm).
All of the cells biopsied are mixed together, not each tested individually. If there is one cell duplicating with an extra chromosome 21 and one cell with a minus Chromosome 21, it will balance out and show as euploid, when in fact it's Mosaic.
From other's posts I've read, the test you have had is influenced by increased age and low papp-a, your result isn't guaranteed, it's based on an algorithm.
Please take comfort from the other's posts, everything will likely be fine x
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