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Antenatal tests

Down’s syndrome diagnosis after PGT-A testing - any experience?

40 replies

Claire12098 · 31/07/2023 06:06

Hello, after ivf I am currently in a living nightmare of having received the highest possible risk score on the combined test for T21 (greater than 1 in 2), despite my embryo being PGT-A tested and coming back normal. NT was normal but HcG was off the scale high and papp-a was low. I had convinced myself that this was just the screening false positive and was age related (just turned 40 when eggs were collected) as I could find no examples of this on any forum, however many times I searched.
However, last Friday I was devastated to learn that the nipt came back as high chance too. Today, at nearly 15 weeks, I will have cvs but seems like that is just confirmatory as it’s now something like 90-95% likely that the baby has it. I just can’t get my head around how this could be happening - I know pgta is not 100% but it’s something like 98% accurate. All I keep finding is posts where people are using pgta to avoid exactly this and others which say how rare it is for nipt to contradict a pgta test. A long shot, but has anyone had this happen to them? Also wanted to post this for balance for people considering pgta in future.

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User69611 · 31/07/2023 12:19

Hi there. Afraid I have no experience of PGTA but just wanted to say I am so so sorry for what you are going through, it is the most horrendous experience. A few weeks ago after my 12-week scan, risk results came back as <1 in 2 chance for T21, I had a CVS a week later and results confirmed the diagnosis 2 days later. I chose to have a termination. This was 2 weeks ago and I found the waiting time and getting the results the absolute worst. Just wanted to send you my thoughts as would not wish this on my worst enemy, and can't imagine how much harder it would be having gone through IVF to conceive. Hope you have a miracle and the screenings were wrong some how. (I had a high NT which complemented the risk findings, HCG was 1.8 and beta 0.44, for anyone else reading this going through the same). Sending much love and strength.

Claire12098 · 31/07/2023 12:50

Hey, thank you so much for your reply and I’m so so sorry that you have been through this too. I agree it’s a horror beyond what I could have ever imagined. My Hcg was crazy high, 7.7, and had low Papp-a at 0.27. NT was normal and baby has looked fine on the scan. The fact the embryo was already tested for t21 before implanting just makes it even harder to accept. Sending you my thoughts too as you try to make sense of what you are going through x

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User69611 · 31/07/2023 13:53

Let's hope somehow there is another reason for your blood results (or perhaps a misreading?). Although I did try to accept the worst once the risk outcome came through as I think I found that easier as a coping mechanism than holding onto hope...although if it is bad news, nothing will make that easier to accept. As you say it must be such a shock given the embryo testing. Take painkillers before the CVS if you are yet to have it, as I found it a bit painful. Do keep us posted and I hope you have lots of support around you at the moment during this awful awful waiting time. X

Lougle · 31/07/2023 14:33

I am so sorry you are facing such a stressful time. Have you decided that you aren't able to contemplate continuing the pregnancy if T21 is confirmed? It must be a very difficult decision, especially as you've been through IVF to get this far.

ZuliKyanLarsFoz · 31/07/2023 16:54

Gosh, how stressful for you. If you haven't already had the CVS, I would discuss with the doctor waiting for an amniocentesis. The Harmony test checks placental cells in your blood stream...a CVS tests placental cells too. However an amnio tests fetal cells. In your very unique situation where you had PGT, I'd want the fetal cells testing for absolute certainty. You can get something called placental mosaicism where the abnormality in chromosomes is just confined to the placenta.

Claire12098 · 31/07/2023 18:05

Thanks so much for the messages. I had the cvs - amnio I would have to wait another week, but indeed it is a worry in case it’s only in the placenta and then they haven’t tested the fetus.. but apparently the cvs might then come up as inconclusive. I spoke to my clinic and they said they have never seen this happen with a tested embryo!

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Claire12098 · 05/08/2023 09:23

Just an update - cvs came back with all cells with trisomy 21. They’re saying it could still be in the placenta so amnio on Tues but it’s most likely the baby has it. The clinic and their lab are investigating but still no answers as to how this happened in a euploid embryo.

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HopityHope · 05/08/2023 09:33

I’m so very sorry you have to wait further until Tuesday to find out and I’m glad they aren’t dismissing it and trying to find out how this happened with the testing. We are also doing the pre screening as we would also terminate with T21, due to previous experience. There is no right or wrong answer.

Claire12098 · 05/08/2023 09:39

I agree, it’s a horrific decision I never thought I’d have to make. I hope your screening goes well x

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DownRightAmazing · 05/08/2023 09:47

@Claire12098 you might not be in a place where you want to hear this yet (or ever and that's fine too) but I have a child with T21 and happy to talk to you anytime. Mine was diagnosed with bloods at the 12 week scan (1 in 3) and confirmed by NIPT two weeks later. I well remember the horror and agony - and that without the extra confusion of having a tested embryo.

I'm sorry what you are currently going through and wish you peace with whatever decision you make x

User69611 · 05/08/2023 12:17

So very sorry to hear this @Claire12098 . Good idea to have the amino to double check but the extra time waiting for the procedure and results just must be prolonging the agony at the moment.

FairyPixie1983 · 05/08/2023 18:29

@Claire12098 if you don't mind me asking can you remember what it was that pushed you high risk
I have just had the same odds as you 1 in 3 but also 1 in 38 for edwards
And I can't sleep I lie awake googling everything trying to cling to some hope but im convinced its definite
I tried to get cvs on Thurs and the placenta was in wrong place So they couldn't do it so I've needed up getting nipt yesterday cos I'm terrified if they can't do cvs again next week and I feel like I'm in limbo
I'm so confused with numbers and the only thing that I can see has drastically pushed me up is my age 39 and my low papp a 0.28 high was normal nt 2.7mm she said in normal range but my bmi is way over 30 I was told from my first midwife appointment that I'd need asprin to help my placenta
This has just totally threw me into a living nightmare and I can't stop crying
The screening midwife and the nurse where I went for cvs seem to say with my odds unless a miracle it's almost definite

Claire12098 · 05/08/2023 22:04

I’m so so sorry to hear you are going through this, it’s just truly awful. I had the same issue with the placenta in the wrong place which painfully prolonged the worry. They did get to it when I went back as it gets easier as the baby grows. It’s good you ended up doing the nipt as it’s very accurate so you are already on the path to getting more of an answer. I think what pushed me up was age but also the Hcg was 7.7 times what it should be which apparently they never see. So I think they were pretty sure from the start it was not going to be good. Papp-a was also low (0.29) so it was the combination of that plus the Hcg. My nt was quite low - 1.3 - so nothing to do with that. Not sure what impact bmi has on it I’m afraid, also not sure why you would get 1 in 38 for Edwards as I came up low on that, perhaps because my Hcg was so high, not sure… I do think from all I read that the combined screen can be a bit of a black box of statistics and it does turn out ok for some people. I’m so sorry you’re in this situation - I found the waiting so torturous and so painful and the endless googling is hard to stop that somehow I’m calmer now even though my news is so awful. I just hope you hear back soon, thinking of you xx

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Claire12098 · 05/08/2023 22:04

Thank you, I appreciate the post and I hope you are doing ok too. Such a painful thing to happen xx

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Claire12098 · 05/08/2023 22:05

@DownRightAmazing thank you for your post, I appreciate the offer - I will let you know xx

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Claire12098 · 05/08/2023 22:09

@User69611 Thank you, I appreciate the post and I hope you are doing ok too. Such a painful thing to happen xx

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FairyPixie1983 · 13/08/2023 12:08

@Claire12098 did you get the results from amnio yet?
Mine is Thursday in some ways I am clinging to hope but the other part knows the answer and wants this all to be over xx

Claire12098 · 13/08/2023 13:03

@FairyPixie1983 no not yet. Feel the same as you. How are you doing? Silly question really..x

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FairyPixie1983 · 13/08/2023 14:45

@Claire12098 I just go from confusion and sadness
Thinking many older people have babies why has this happened
I cry all day every day and I don't know if once the termination is done after amnio that will at least let me move on or if I'll be racked with guilt 😔
I know 100% though I am not going through with the pregnancy if amnio shows t21 and some may not understand that but its how I feel
The more I read about people with same nipt result though the more I am sure this amnio is just going to confirm

Claire12098 · 14/08/2023 20:35

I really hope this isn’t insensitive to post, however I feel like I need to share the latest twist in this bizarre tale… after more than 1 in 2 chance combined screen on a euploid embryo, higher chance nipt AND an abnormal cvs my amnio came back normal! One doctor told me he’d never seen it, another that he’d seen this once in 30 years. So would seem at the moment abnormalities are confined to the placenta and the baby is ok. I don’t think I’ll rest until I know the baby is here and ok but wanted to post as seems like sometimes these highly unexpected things can happen… and for everyone who is going through this awful awful time of waiting, you are in my thoughts and I hope you all get good news. I’ve had 4 weeks of hell and since I got the call 8 hours ago have been unable to do anything, such is my shock. These experiences, even if turning out ok, will change us forever I’m sure. Wishing you all the best xx

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User69611 · 14/08/2023 20:40

Oh my gosh that is absolutely amazing! That has really made me smile. I am so very happy for you @Claire12098 ❤️
you must be so so happy after expecting the worst. I really hope the rest of your pregnancy is less stressful and goes fast until you have your lovely baby in your arms. Is it your first? Amazing xxx

Claire12098 · 14/08/2023 20:49

@User69611 thank you so much for your kind words. Yes my first, aged 41.. I hope you are doing ok, I feel so much for anyone who has gone through the tests and the waiting and the ultimate pain xxx

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FairyPixie1983 · 14/08/2023 21:36

@Claire12098 I am so happy for you I know how this feels and its nice to see you have got a happy ending after the horrendous stress
I'm not so hopeful however I feel a bit more calmer that whatever the outcome it will be done by next week either way and if bad news we will try again xx

Claire12098 · 14/08/2023 21:42

@FairyPixie1983 i’m really keeping everything crossed for you. I was just completely resigned to the worst outcome - I think there’s only so much stress we can all take until somehow we feel calmer about it.. keep us posted anyway and really wishing you well xxx

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FairyPixie1983 · 14/08/2023 21:44

@Claire12098
Thank you
I will do xx

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