The stress of waiting for an Amnio result

[NiceAsPi]

Hi all, I’ve never posted on here before, so bear with me! I’m 17 weeks pregnant with my first baby. All was going well until 3 days after my 12 week scan (which was seemingly fine). NT was 2.8mm so within threshold. I got told the baby has a 1:13 chance of DS, which was a massive shock. I’m 38 but am fit and healthy so (stupidly it seems) didn’t think I would be high risk. Having discussed with my partner, we decided we’d terminate if the baby has DS. He has 2 children already and we don’t think it would be fair to them, although I realise not everyone would make the same choice and fully respect that.

We decided to go for diagnostic tests to get a firm yes or no. At 14 weeks we had an unsuccessful attempt at a CVS (my placenta was in the wrong place), so were told we had to wait over Xmas until I could have an amniocentesis. I had this a week ago on Monday (as a side note- ouch, I can’t believe some people don’t find these painful- I started getting cramps immediately!), and the results came back in 3 days as inconclusive, because of the presence of my blood in the sample (the consultant had spotted this and sent my blood to the lab too).

So that was 9 days ago and I’m waiting for the full results. I am seriously struggling with the stress of this, particularly as I get close to a day where I might get results. I have a pretty stressful job (which I can normally handle when not pregnant and freaking out) and at the moment I’m finding it really hard to work. Has anyone else experienced this crazy level of stress whilst waiting? Normally I’d say I can handle things but this has totally thrown me. Apologies for the essay, but I’m really struggling and would appreciate any advice or assurance that this is normal!!

Hi @NiceAsPi. I had a similar experience in both my pregnancies although only had NIPT, not amnio or cvs - but can fully identify with the stress of waiting you describe. My first pregnancy had a 1 in 29 chance of Downs (I was 34, fit and healthy, was a huge shock) and I think I cried solidly for a week waiting for my NIpT results (which were low chance). I then had a 1 in 2 chance of Downs with my second, and a 4mm NT so was under foetal medicine for the pregnancy. I had nipt as a first Port of call which came back low chance but I never settled for the rest of the pregnancy and I honestly made myself ill with stress. I have a stressful job too which was actually a good distraction some of the time but other times I felt totally overwhelmed and would cry on my way to work. The good thing about the amnio is you will have a definitive answer one way or the other; on reflection I wish I had done it as living with the ambiguity for 6 months was horrendous. I just wanted to reassure you that what you describe is normal, it was honestly one of the most stressful things I’ve ever experienced and your feelings are so, so valid.

footnote to this - my baby was born healthy and well last month, no Down syndrome - and that was after a 1 in 2 chance (38, 4mm NT, high hcg and borderline Papp-a so everything pointed to downs). At a 1 in 13, you have a less than 10% chance of the baby having Downs - my maths is awful but it’s around a 93% chance all is well. The screening is a very crude tool that caused a lot of unnecessary stress for a lot of women, in my opinion. Hope it all works out for you.

Hi @Bloodystressed1. Thank you so much for making the effort to respond, I really appreciate it. First and foremost, congratulations on your baby, I’m so pleased you had a good outcome.

Thank you for the reassurance! I think maybe because at the hospital they said to rest for a day and then get on with things, I’ve been feeling like I’m being OTT about this, but as you say, it’s one of the most stressful things I’ve ever experienced, and I feel like my enjoyment of my pregnancy is being stolen. I’m sorry you feel like you should have gone with the amnio, but who knows, perhaps you swerved a complication (I know it’s unlikely but still). I guess I’m struggling to be positive whilst I wait as there have been a few setbacks already. I’m just really hoping they don’t come back in a week or so and tell me I need another amnio…eeek.

Thanks again for sharing. I hope all is well with you and your little one now :)

Can completely identify with the feeling of the joy being stolen and I actually struggled with anger throughout that this was happening to me/the unfairness of it when I was surrounded by pregnant people just enjoying a “normal” pregnancy (although I was lucky in the end and it could have been a lot worse). Be kind to yourself - it’s very stressful and I still have residual feelings of anxiety despite a good outcome. Really hope you get the outcome you want - I went back and forth with amnio, my midwife insisted amino is a very safe procedure. the consultant wouldn’t quote anything beyond the 1/200 miscarriage risk but the midwife told me off the record it’s a lot lower than that. Really feel for you with the complications you’ve had already, it’s really unfair and you are really going through the mill. Be kind to you x

Hi @NiceAsPi did you get your results? I'm in a similar situ.
Im having twins and had low screening at the NT - 1/1000 & 1/750 but then T2s femur was showing very short on our 20 week scan.
We went for the NIPT test and it came back high risk for downs. The consultant wouldn't do the Amnio at 23 weeks because the risk was too high that we could loose both babies.
So now we're having it done as 32 weeks - which is in 6 weeks time.
Sadly, we'd take the same path as you if it turned out to be true. I'm really struggling, the consultants are blunt and say that the NIPT isn't wrong and that T2 isn't going to make it. I'm just so sad and confused. We're being scanned every two weeks and instead of being excited to see the babies I'm just traumatised by it all.

Hey @Obione1 , firstly I just want to say that I’m sending you a massive virtual hug. I’m so sorry you’re having to deal with this. From what I’ve been told, the NIPT is good for picking up Down’s, but - it’s still only a screening test, so it’s not a definitive diagnosis (although obviously I’m no expert, and the scan result may suggest it’s more likely). It must be so stressful to have to wait until 32 weeks; do you have any options at all? (Don’t feel you have to answer that if you don’t wish to).

Thank you for asking, yes I did. On Monday I was told that the amazing news that my little girl doesn’t have any of the big three trisomies. I’ll be happier after my 20 week scan (it’s been such a bumpy ride so far) but I have to admit I’m very relieved.

I’m so sorry you’re feeling so traumatised, I very much hope for a good outcome for you x

So happy for your results!

I'm in a similar situation.

NT came back at 3.8mm, I'm 36 so I had a 1:5 chance of DS from combined test. Been for follow up scan this morning where I was told I'd be able to have CVS as I'm only 14+2. They scanned and everything looks as it should (they said, and I don't think they'd hide anything at this point).

Couldn't do CVS as placenta wasn't in the ideal place so now I'm back next Monday for an amino, which I would have preferred in the first place but I just wanted to waiting to be over that's the only reason I opted to have it today. So I have to wait til Monday, then wait again for the results 😩

The waiting is the worst.

Hi girls. I’m in the same position and going out of my mind waiting on my NIPT results. They couldn’t measure baby properly at 12 week scan and my quads come back as increased chance (I’ll be a month off 40 when I give birth). Now I’m beside myself with worry waiting for the NIPT to come back. I’m 17+1 and I’m in a right state. Praying all goes well with your pregnancies x

I've heard so many positive stories. Hopefully ours can be one of those too 🤞🏻

Praying for us all id not wish this on anyone x

Urgh @linz1987 I’m sorry you had the failed attempt at the CVS, I don’t know about you but I’d psyched myself up for it and found it a pretty big blow to have to wait for the amnio. But- I agree, I also prefer it as a choice and looking back on it now I’m glad it happened that way, although the waiting was brutal.

@AimeeLou84 I really feel for you - I was in a state too. My only advice is be kind to yourself, I tried to keep trucking but ended up getting sick and having to take time off work anyway.

Big hug to both of you. I hope you get your results soon and that it all turns out to be stressful as hell for absolutely nothing xxx

How's everyone's pregnancies going?

I am currently 15+1 weeks. At 12 weeks my NT levels measured at 3.8mm so I was referred to John Radcliffe Hospital. It is showing high risk 1:18 for Downs Syndrome and very low for Edwards and Patues 1:2600. At 13 weeks, I went in for a CVS but they couldn't do it due to the placenta positioning. The scan all looked good and showing no Down Syndrome features. Went back today for an Amniocentesis. They thoroughly checked the heart and done a check over which they were happy with. Just need to wait up to 5 days for my results.

The not knowing has been so hard. Hiding the pregnancy from our children (9 & 5) has been the hardest bit. Constantly telling them I'm not feeling well. Ive been hiding under oversized jumpers for weeks now 😢

Hi @primrose1234. I’m sorry to hear you’re in the same boat, it’s so stressful. I hope you get your initial amnio result in the next couple of days (mine took 3), and that it was a successful sample. Fingers crossed everything goes well for you. I have two step kids that I had to hide it from, so I really feel for you.

I don’t know if it helps but- I’m now 27 weeks and have had a reasonably smooth ride since all the stress and worry. Once I’d had my 20 week scan I settled back into things and relaxed again, so that horrible time of waiting and stress now feels quite a while ago.

Wishing you all the best for your results x

Mine was 3.8mm too.

We got the all clear at 19 weeks from amino and then 20 week scan was all good.

My results took a week for first set. Then about 3 weeks for the microarray. Hope yours don't take as long!

Amniocentesis results came back today and our baby doesn't have Down Syndrome, Edwards or Pataus. Heart Scan at 16 weeks was all good too. Just waiting for the additional results to come back for any other Chromosome abnormalities and another heart scan at 20 weeks. So far so good 😊

Great news x

@primrose1234 so pleased to hear your news! I hope you can start to relax and enjoy your pregnancy now x

Bless you - I fully understand how hard this is!

We had a CVS at 11/12 weeks as I'm a carrier of a mitochondrial disease. The wait was the worst thing I've ever experienced, and my partner felt the same.

We luckily got the Trisomy results within a few days, but the results of the mitochondrial disease took over a week and I just couldn't function for that week. Teaching whilst waiting for this was hell as I just wasn't in a good headspace whatsoever.

I had quite a few occasions where I wished we hadn't done the test, but I knew that was just my panic as I would have ruminated over the possibility of the disease being present all the way up until birth.

What I will say is, if that news is good news then the relief you will feel will be euphoric. I cried, I laughed, I slept properly for the first time in a while!! And, if it is bad news, you will be grateful that you know.

I truly hope it's good news for you both and I'll be thinking of you xx

Sorry, I didn't realise you'd got the results already! So glad it was good news 💗