High NT, Low NIPT, Late Amnio??

[Bloodystressed1]

Hi there, just looking for some thoughts on this, it’s a long one.
I’ve lurked around every thread going on the subject and still not sure what to do. would like to hear from others with similar experience - in particular from anyone who had a late amniocentesis (past 20 weeks), or didn’t have an amniocentesis after a high NT and relied only on NIPT and scans.

I had my 12 week scan where the sonographer flagged up a high NT measurement (I saw her take several measurements between 3.6-4mm and she went with the highest, 4mm). We were taken into the “quiet room” for the “quiet chat” about the horrible things this could mean and were told we would be referred to Foetal medicine. We were going abroad the next day for 2 weeks so didn’t want to wait 2/3 weeks to even have another test so we managed to get a private appointment that evening for a panorama NIPT blood test, which tests for the usual trisomies and a few other things too (DiGeorges, Prader Willi, Turners, Cri-du-chat and a few others I hadn’t heard of).

While we were waiting, my blood results from NHS screening came back and I was told chance of Down Syndrome was 1 in 2,
low chance for Edwards/Pataus. I had a high chance of DS from the NHS screening 3 years ago with my little boy, was told 1 in 29 due to 3.3 NT and borderline Papp-a. I had NIPT and it came back low chance with him and he didn’t have Downs at birth so I’m wary with the NHS test and how accurate it is. However, a 1 in 2 seemed like a done deal to me.

A week later, NIPT came back low chance for Downs and everything else. I felt reassured by this briefly and when I saw foetal medicine again at 16 weeks, the scan looked “totally normal” (in his words) and I declined an amniocentesis based on this and the revised risk from the NIPt. My original plan was to wait and see if the echocardiogram and 20 week scan brought up any further concerns. Foetal medicine consultant didn’t push me either way and said it’s my choice but I felt he was quite doom and gloom about the limits of all the tests they do (amnio included) and there are thousands of possibilities in terms of genetic conditions, many of which can’t be spotted on scans (or even amnio).

Anyway, had echocardiogram and 20 week scan with foetal meds and all looks perfect, no concerns. We decided at the time to leave it there. I’ll be seen again at 28 weeks. Should note that we agreed to continue with a Downs pregnancy should the health of the baby look ok (although Downs looks less likely now).

Two weeks later Im regretting my decision not to have amnio and called to book it in - however was told they don’t recommend doing it between 22-32 weeks in case it triggers a labour and the complications the baby would have being born at this gestation. They will do it if I insist but recommended waiting until 32 weeks.

my partner feels fairly reassured by what we’ve done so far and feels that the things not tested for are fairly rare and since our NIPT was low chance and scans have not shown anything else of concern, this is good enoug for him. However I just have this nagging doubt that I should have had it for my own peace of mind.

has anyone with a high NT just had NIPT and what outcome did you have?
has anyone had an amniocentesis at over 20 weeks and what outcome did you have?
thanks

Hi @Bloodystressed1 I’m sending you big hugs - I’m not sure if I’ve commented on one of your previous posts (your user name feels familiar) as I pop back to this board and share my experience of high NT. So apologies if you’ve heard this before! And I don’t have any direct experience on a late amino but thought I’d comment to share my thoughts and bump your post…

Our youngest had 4.7mm NT measurement and my combined screening showed a greater than 1 in 3 chance of T21 at 12 weeks. We had a low chance NIPT result which was really reassuring to me at the time. I declined a CVS - my intuition just told me it wasn’t the right thing to do and I felt at peace with that. I did then wake up one day (around 15 weeks) and decided to have an amino due to the NT measurement we’d had. That was all clear and all scans were in ‘normal’ range. I was told it was likely just one of those things but they can’t test for everything and even in a pregnancy where no concerns are flagged, there are many things that might still affect them. Our littlest is 3 now and thriving. I remember agonising over what the right thing to do was…

I know we made the decision to have the amino earlier but I guess our NTs were similar (yours is quite a bit lower though in terms of the increased range) and I remember reading a lot of positive outcomes especially around the 4mm mark and took comfort in that. I know no one’s experience can provide complete reassurance as everyone’s situation is individual and personal to them but my outcome would have been the same whether I’d had the amino or not iyswim?! I think it’s positive news that your subsequent scans have shown no concerns but I really feel for you as it’s such an anxious time (I never really relaxed in my pregnancy ). Hopefully someone will be along to share more direct experience - thinking of you x

@jmm499 thanks so much for your response and for sharing your experience,
I really appreciate it and so glad all turned out ok for you, it’s so reassuring to hear positive stories. I haven’t posted before but I’ve commented on a couple of other posts. It’s just the worst time and I don’t feel reassured by anything that’s come back so far, even though the only marker so far is the increased NT and everything else has been “normal” (consultant’s words).
Did you feel reassured after amnio? I just wish I’d had it now. Did you have advice not to have it between 20 and 32 weeks? This was the advice given to me.
thanks so much again x

@Bloodystressed1 I can relate so much - it was a very difficult time for me 😞 I did feel reassured by the amnio to a degree - although I did worry throughout the pregnancy that the NT might be symptomatic of something that they couldn’t test for. Once he was born I was extra vigilant of anything that might not be developmentally typical but nothing has shown itself. I was searching for an answer to the high NT but like I said, they’ve said it was likely just one of those things. It took a long time for me to truly relax and believe that though!

I think I do remember saying there was a window to have the amnio done so sounds like the same advice you’ve had…. I was very nervous having the amnio I must say as I was so worried about the miscarriage risk (we’d had 2 losses after having our first without any issues - it was also taking a lot longer to fall pregnant each time). I did really worry afterwards for a few days / whether things were ok post amnio. And tbh the reassurance post amnio didn’t last for long as I was then concerned about the 20 week scan! I think the period after 20 weeks is a difficult one - it’s a long time to the next check in and the fear can easily set in when you haven’t got the next test to focus on. I’m not sure I have any useful advice to give aside from trusting that you made the right decision at the time on not to have the amnio. I always felt that my intuition had been that everything was going to be ok (I am an anxious person and don’t often feel this way!) But it’s when I read more and listened to some of the midwifery / medical staff who seemed to paint the bleakest picture - that’s when fear set in and I looked for more reassurance outside of myself. I know it’s easier in hindsight though and I remember it being such an all consuming time.

Let me know how you go - really thinking of you x

Hi - we had a 3.2mm NT and given a risk of 1 in 166 for Downs. We had a NIPT done privately for reassurance and was low risk. Our DD was born perfectly healthy.

Hi @Bloodystressed1
I just want to share my experience with you as I was in a similar position earlier in the year.
We got told at my 12 week scan that my baby had an NT of 5mm, and it put us into a complete panic and started the worst weeks of my life in terms of stress and confusion.
After our scan we had a NIPT which thankfully showed a low chance of all three syndromes, but our consultant advised us to have some blood tests, extra and more regular scans, and a fetal heart scan at a specialist hospital. So we did all of the above and all came back as looking ok, but then at our 22 week scan our baby's NT was 8mm and we got told it was concerning that the NT had gone up but they couldn't say why.

The consultant said because we had had a NIPT they wouldn't normally advise an amino, but it was our choice if we wanted one or not. We thought about it for a couple of weeks, I didn't sleep the whole time and spent my nights obsessively reading other people's experiences and trying to find as much out about my situation as possible to try to help us decide. We eventually decided the risk of miscarriage was too much for us, since the NIPT came back low, so we decided against it. But I was worried and terrified right up until my son's birth and it really tainted pregnancy.

But I had a very healthy baby boy in June, who is now 3 months old and very healthy and happy. No explanation of his high NT has been given, and we've since been told by a number of midwives that it can be absolutely nothing - even just a.largw layer of fat on the neck of the baby!

I've read lots of positive experiences like mine, and seen some that didn't turn out as happy as mine did, but I wanted to share my story with you to provide some kind of reassurance. One thing that stuck with me during my third trimester, was a consultant told me that we could have the most worrying/stressful pregnancy and everything be fine, just as much as someone with the perfect pregnancy and no signs of problems on any scans could have a baby with health issues. And that helped me through the last few weeks.

The main deciding point for us was my son showed no other signs of problems and so we decided to trust the NIPT, and we're glad we did. We might have decided otherwise if any other issues had been found.

I hope my experience helps you in some way, and all turns out ok for you and your family too ❤️

@FirstTimeMumVic thank you so much for sharing your experience. I am so happy to hear things turned out well for you, but so sorry that you’ve had to walk this shitty road too. It is reassuring to hear from someone in a very similar boat where things turned out ok, so thank you so much for taking the time to respond.

The not knowing is just intolerable at times - but then I do know of people who have had miscarriage after amnio and then think I made the right decision - I have some history of being in the 1% Where pregnancy is concerned and I just thought that amnio would be no different and I would be in the 1% that miscarry afterwards. That said, I find myself going down rabbit holes reading other people’s experiences online of high NT and no amnio and driving myself into a deep depression over the sad ones where the worst happens. At the moment I’m feeling panicky and overwhelmed, and actually quite traumatised by all the worry, convinced the baby will have some rare chromosomal condition and won’t live. But I do have more positive, hopeful moments too where I think this is unlikely.

Foetal medicine have offered amnio but didn’t push it. He did make clear the limits of the NiPT though - I think I was hoping he would say it wasn’t needed because of the negative NIPT but I had no such reassurance. Was it the usual policy at your hospital for them to just not offer it if the nipt is low? Or was it because scans looked ok? Every scan we have looks fine but he always comes out with a caveat about the limits of scans and that they can’t tell us that much. It’s just overwhelming.

did you have any genetic testing done on the baby after birth?

you are totally right that it’s all in the hands of the gods a bit and you could have a perfect pregnancy then something very wrong discovered after birth. I very much hope all is well as it was with your situation and thanks so much for sharing as I do feel a bit lighter hearing from someone who understands.

@Bloodystressed1 You're so welcome. And I'm glad hearing our story made you feel a little lighter ❤️

I felt exactly the same as you, I'd have moments where I'd feel positive and remember all our tests/scans other than his high NT had come back ok so that was a really good sign, then I'd have days where I'd just cry and worry and wonder if we did the right thing not having an amino so I completely understand how you feel and I'm so sorry you're going through it because it is truly awful.

So our hospital did the same, they didn't push for us to have amnio due to the other tests/scans coming back "normal" but they never took it off the table. Which always made me think if they aren't just saying 'no we don't think you need one' then maybe we should have had it. But I'd never have forgiven myself if I'd miscarried after so it felt like the right thing for us at that time. I know some people who have had one and everything was fine after but for me personally I didn't want to take the risk.

One thing I found very frustrating through the whole process is that the hospital just gave us facts - which I completely understand why - but no one ever helped us make a decision, no one gave us other people's experiences to help us make more of an informed decision, and again I absolutely understand they couldn't in hindsight, but I was so frustrated that everything was always caveated with a warning and nothing ever truly ruled out so the worry never went away. I always felt relieved after a test or scan came back ok, but I never felt truly comfortable or happy until I was holding my son in my arms and was told he was fine.

What I've taken from my experience is, if I have another child, I'll have a NIPT and listen to Drs advice still, but if the NIPT and growth scans come back ok then I won't stress myself out like I did last time.

So my son has had tests since his birth for other chromosomal syndrome's that they weren't able to test for during pregnancy and he's passed them all with flying colours 🥰

I really wish I'd known during pregnancy how my story would turn out so I could have enjoyed my pregnancy and not spent most of it sick with stress and worry. So please please try to enjoy as much of it as you can and trust your gut and your decision.

I really hope everything turns out well for you and you manage to have some brighter days during your last few weeks 🤞🤞

Hi there,

Sorry you are going through this. I had the same chat in the room with tissues and bottles of water after the 12 week scan, it was awful. I just wanted to say that we had a NT of 3.6mm at 12 weeks and a low risk NIPT but I still went for an amnio at 17 weeks because I wanted more certainty. It did not give me that to be honest. I’m not sure that it will give you the certainty you feel you need. The whole pregnancy was stressful. I felt like each normal test and scan reduced the likelihood of a problem, but didn’t eliminate it. There are some syndromes that don’t show up on a standard amnio. The consultant advised me to focus on my other children and on my work during my pregnancy - this was good advice. I was obsessing over the high NT and making myself ill with worry, when my baby was swimming around, oblivious!

I didn’t feel ok until the day after he was born, I told the consultant my worries, and he talked me through the newborn check as he did it, and reassured me.

My baby is almost 5 months old, meeting all his milestones and seemingly healthy. Most days I don’t even think about the high NT.

Wishing you and baby all the best.

@Surprisepregnancy1 thanks so much for your message, good to hear from someone else with a positive ending although sorry you had a similar journey during your pregnancy - it’s just been the worst time and I’ve felt so sad and angry that I’ve been robbed of a happy, exciting pregnancy experience like many seem to have (although at this juncture I actually feel lucky as nothing beyond that first measurement has been detected and it could have been a lot, lot worse).

My consultant has always been pretty sobering about the limits of all the tests they do, including amnio, and the foetal meds midwife said the same as you - that many people don’t find it reassuring necessarily for the reasons you mentioned. I’m still debating having it at 32 weeks but that would be purely to have any bad news before the baby is born rather than after, and perhaps to prepare a bit. My partner thinks there’s no point and we should just have the tests done at birth and assume all is well now.

I saw my foetal medicine consultant for 28 week scan this week and all was looking as it should, baby is bigger than average and no abnormalities detected. They can’t say anything for sure and everything came with the usual disclaimers about the limits of scans and tests but for the first time, I felt a bit reassured as I was anxious about growth and brain abnormalities etc that they would be able to see into the 3rd trimester. The possibility of Down syndrome is still very much on the table in my mind due to a 1 in 2 chance at screening, despite the negative nipt - but I feel ok with that now. I’m really hoping this will all one day be a distant memory - really hard to imagine at the moment and it’s just consumed everything the last few months!

@Bloodystressed1 I just wish you and the baby so well. It’s so so tough for anyone to go through and absolutely it robs you of all the joy and excitement of the pregnancy.

I just got through it and as the consultant suggested, focussed on work and my family. I thought about the baby as little as possible. I worked until 4 days before my induction. Isn’t that awful!

Will say a wee prayer for you and baby.

The amnio itself isn’t desperately painful or unpleasant. It’s more the thought of it? If you decide to get it there will be wonderful nurses to support you and hold your hand if needed. The results come back really quickly.

Similarly I wanted to be reassured or to know everything there was to know before birth, but there isn’t really any certainty even in a “normal” pregnancy.

sending love 💐

Hi didn't want to read a run, just thought I would share me experience with regards to aminos.

We were referred to fetal medicine for an abnormality they found on the 12 week scan, she had an abdominal wall defect (her bowel and liver were on the outside in the umbilical cord).

We went to fetal medicine and they confirmed the same thing and offered a cvs test on the day because an abdom defect is linked to a lot of chromosome problems.

Anyways everything came back clear which was a relief, we had great scans apart from the fact she was massive and they detected a larger tongue (my anxiety was through the roof at this point because something didn't feel right) and then at 35 weeks my waters broke and out came and 11pound 5 baby! (Section thank god)

She was born with a genetic condition called beckwith weidermann syndrome, which wasn't detected.
There's some features which got her a clinical diagnosis like she has a large tongue, birth mark between the eyes and ear creases, and of course the tummy defect and size of her.

She's three months now, and is thriving. She's like any other baby except larger 😂 purely in length, she's reached her milestones and she's just a blessing.

Don't worry yourself, I know it's easier said than done and the unknown is scary. Take comfort in the scans being clear. Enjoy your pregnancy, I think you have had some positive results and aminos can sometimes be a waste of time anyways. And at the low chance your baby is born with something, they aren't always scary conditions.

If my daughter didn't have beckwith she wouldn't have been so big, wouldn't have been able to have corrective surgery on her tummy so early and she wouldn't have flew through everything she's been through. Every cloud xxxxxxx

@honeybunsleo thank you so much for sharing your story. Your little girl sounds lovely, bless her, although wow yeah huge size at birth and good job she came
out through the sunroof!’ It’s good to hear your advice, that even if the baby has a genetic condition, it doesn’t always mean it’s super scary. I guess with pregnancy anything can happen, can’t it! I’m just keeping everything crossed for no more bad news going forward, it’s so hard to get excited at the moment.

Hi @Bloodystressed1 i hope you are doing ok? Appreciate this is an old thread but I’m going with 3rd trimester stress after slow growth and wondering how you got on. I hope all is well xxx