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

[Claire12098]

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.

@Claire12098 that is wonderful, really wishing you the best for the rest of the pregnancy. But so sorry you endured the most awful last few weeks - and quite frankly what a complete headf*k for you, hope you get some sleep soon! I am lucky enough to have a 2yr old already and feel very blessed to have her.

@FairyPixie1983 Thinking of you too- do keep us posted and if it is the outcome you are dreading and you have any questions about the next steps do message me, as sadly I went through it all last month. xx

@User69611 thank you
It's horrendous I wouldn't wish this on my worst enemy the emotional stress and I do worry if its bad news and I do later try again these combined tests will terify me 😔
Will update next week when I know xx

I know- definitely the worst experience I have been through, just awful. And your waiting time has been longer than mine, and the emotional pain just continues I imagine, I'm so sorry. Agree, I will not enjoy my next pregnancy one bit and the scans/tests are going to be so anxiety provoking - but hopefully it will be a happier outcome.
Take care as best you can this week x

Hi, just thought I would share my experience. I have 4 children already, my eldest being 20! I am having a surprise pregnancy at 42 years old. We were given the NHS screening test which came back at 1:18 and NF was 2.99 mm.

I refused amnio due to risk of miscarriage and opted for NIPT instead Came back as high risk. I have researched and researched and researched and accepted baby will have DS. We are under care of fetal medicine and baby is doing fabulous. Currently 30 weeks. I experienced fear, anxiety, cried lots etc at first but have now accepted it and am actually excited. She is just a baby at the end of the day and will just be a different journey with this one. I am determined to make it work and for her to have a full and happy life.

I completely get this is just my experience and other people may not feel the same or able or in a position to continue.

My only advice is time.... give yourself time to take a breather, process the information and then decide. The words DS are scary but definitely need looking into . Lots of fabulous groups out there with help and advice. xxx

@Claire12098 I'm so sorry to potentially be insensitive..may I ask how the rest of your pregnancy went? I am reading up on pgtesting
Thank you.

@Sofie19 no problem! Am sitting here with a healthy 6 week old boy in my arms so miraculously it all worked out. Still a skeptic about pgt testing now though, especially as I tried a few times to push the lab that did it to look into what happened and they had absolutely no interest in doing so. I understand what happened in our case is that there were abnormalities in the placenta, but that was corrected as the fetus developed, which really makes me question the pgt testing concept! In addition, the pgt testing tests the cells that would become the placenta so somehow that didn’t pick up on the abnormalities - although thankfully they didn’t in my case! Happy to message more on it if it helps, although of course this is just one experience :-)

So pleased that your story has a happy ending @Claire12098 We also had IVF with a PGT-A embryo and my consultant told me the only point to NIPT was to find out the gender early!

If you haven’t, I’d consider reporting your circumstances to the HFEA as they oversee all IVF “add-ons”, especially if the lab aren’t interested.

@Porridgeislife thank you! That’s a great point about HFEA, I will definitely do that as I really do feel strongly that these unusual cases shouldn’t just be brushed under the carpet, especially when people spend thousands on the testing! Originally the clinic wanted to write the case up as a scientific publication but that seems to not be of interest now either…

@Claire12098 Amazing!! Congratulations!! I bet the whole ordeal had an impact on your pregnancy though. So glad you got there with your baby boy though.please could you DM the name of the clinic that you used...

Hi @Claire12098 I am in the exact same situation. PGT tested embryo, NIPT flagged for T21, amnio next week. not expecting a good result. have you heard of any PGT euploid embryos causing T21 later down the road? i know PGT is not perfect but the company claims 98% correct for T21.

@ForCheekyFox I’m so sorry you’re going through this, on top of all the stress and anguish it really was the most baffling time for me as I just couldn’t get my head around the possibility after I’d had the testing, and couldn’t really find any examples in my endless internet searching. The clinic spoke to experts who said the same but in my case it did turn out to be confined to the placenta so am hoping the same for you. Happy to chat more if I can help xx

@Claire12098 Hi Claire, my FISH (from my amniocentesis) came back normal. but im still waiting on the karyotype and microarray. I am still nervous as I see 2-3 posts online where FISH was initially normal but then the microarray showed a mosaic DS pattern. What do you think?

@ForCheekyFox this is really positive news I think! But totally understand the anxiety until the karyotype comes back. I seem to remember the geneticist said to me that if the fish was normal then even if it was mosaic it was likely to be so low level that it wouldn’t be clinically relevant. Am keeping my fingers crossed for you. How strange that we both had this scenario!

Thanks so much @Claire12098 for sharing your story. I am in the exact same position now and have not been able to find anyone else who has had a PGT-A tested embryo come back high risk after screening.

We were expecting combined screening to come back high risk due to my age but we got a 1 in 2 chance of Downs which has shocked us to our core.

ARC are not recommending NIPT as new guidelines state that NIPT gives more false negatives if the combined screening risk is 1 in 8 or more. Unfortunately we are in Scotland and NHS Scotland doesn't agree with that which is a whole other complication.

We are literally drowning in a sea of statistics

We have booked an Amnio and are just clinging on to the hope that PGT-A is unlikely to be wrong but this is the first real life scenario I have found and it has been so incredibly helpful. x

@Goldfinchesjourney so sorry to hear you’re going through this, it’s so hard. Glad you’ve booked the amnio - I definitely think reducing the number of tests you go through is a good idea. Really hoping that it’s just the screening result being off. When it all happened to me my clinic said they’d never heard of it happening with a lot of cases so keeping my fingers crossed for you. Message me if I can help more x

Hi @Claire12098. I have an update. My FISH/karyotype and microarray all came back normal. So I either have some T21 cells in the placenta only or its a complete false positive. I wanted to ask please. Did the rest of your pregnancy go okay? Any weight issues with the baby (which can happen if placenta is a lil funky) and did your baby turn out okay please? (as in no DS and neurotypical:))
Thank you so much for sharing your story. it kept my sanity intact as I went through the limbo.
Sending you lots of virtual hugs and good thoughts!

@ForCheekyFox I’m so happy for you! Yes he was small and so I had a lot of extra scans - he was born at 37 weeks (planned c section) on 10th centile as they wanted to get him out as soon as he was full term. Never found out what the placenta was like but they said beforehand that it was likely causing a growth restriction, although am only 5ft1 myself so he was unlikely to be huge! Had a couple of stays in hospital in the first 10 days due to severe jaundice with him being born early and small. If yours is small just really make sure feeding is properly established before they send you home! No DS and all seems fine - he’s a chubby little thing now with a pretty calm temperament :-) good luck with it all!x

Oh my gosh this has made me cry. So happy for you x

@Claire12098 thank you!!! That makes absolute sense. I am exactly 5 feet myself and it could all just be genetics and not too much of a wonky placenta. But thats really good to know because it sets my expectations and would help me plan tremendously:)

@Goldfinchesjourney goodluck to you
Look at the NIPT reddit group. It has quite a few false positive stories, has 1 PGT tested false positive story. I learnt that mosaic embryos are possible with T21 even after PGT testing but the possibility of that happening is low and the odds are in your favour. agree with amnio though nipt would give you a quick noninvasive answer as well. Keep us updated.

10th percentile isn't even that small though. i don't understand why they would take him out so early? That's not routine for 10% babies is it?

@ForCheekyFox I amso happy to hear your good news, I had been hoping that would be the case.

We have about 10 days to go before amnio and still hopeful for it all just to be a false positive from combined screening or at least confined placental mosaicism.

We did consider NIPT but ARC said that a 1 in 2 chance does also risk a NIPT false negative and we just need certainty now.

Thanks for sharing your story too, we have spoken to so many experts who just won't commit to any answer other than 'it is a possibility that a euploid could be mosiac in some rare situations' and hearing real stories makes it so much easier to deal with.

As a mum who had these tests and went on to have a baby with T21 some of these comments are so sad and offensive. "Wouldnt wish it on worst enemy" being one. All I can say is unless you have a baby with T21 some of the phrases and terminology here really need to be rethought. My child is perfectly health and the best thing to ever happen to me and an absolute joy to have in our family. I really thinks hospitals need to provide better information about what T21 actually is and the comments on here make it sound like the child will be a monster or terminally ill with a poor life when in fact they are the most joyous babies to have in the world and should be celebrated. Imagine having T21 and seeing all these comments with massive congratulations on them because someone else doesnt have it . Having T21 is not the worst outcome at all. Our baby is the best thing to ever happen to us

@yarnmum I am so glad your journey has brought you a miracle, that is what we all want.

Unfortunately not all of us are in that position, personally this will be my 6th pregnancy with 5 losses proceeding it and a decade of loss, infertility and IVF.

We are all here to find help, advice and support in a tough time where the health of our loved and very much wanted baby is unknown. We are not here to be shamed for not appreciating how wonderful a child with Downs can be because we all appreciate how wonderful ANY child can be, regardless of an extra chromosome or a disability.

However, every journey is different, and every pregnancy with Downs is different, some of us will face miscarriage, some of us will face stillbirth, some of us will face giving birth to a baby that does not stay no matter how much we want them too and some of us will face the horrendous decision that I can't bear to even type and a few, the lucky ones, will be in your position.

So my advice to you is hold your precious baby tight and love them for all of us, because some of us may not be lucky enough to ever hold our baby.

@muggart no it’s not that small that’s true! They wanted to take him out early because he was tracking at 8th and then 3rd in the scans so they were worried about placenta stopping working. I did actually want him taken out later but they said I already had the appointment by then so best to go with it. Not sure it was really the best for him overall as he had awful jaundice but he’s ok now!