NT of 4.1-4.6 and panicking

[Tig2010]

Hello!

I had my 12 week nuchal scan today (at 11.5w), having had a low risk Harmony result a few days ago. The sonographer took ages to find the right angle for the NT measurement and ended up taking three - 3.6, 4.1 and 4.6. She gave us a result of 4.1 NT as it was the average (although I’ve since read that she should have stuck with the highest result?!!).

She told us that the result puts us in the high risk category for chromosomal abnormalities, congenital heart problems etc, but beyond that we didn’t get any info about the next steps or risks of these abnormalities. We told her about the NIPT test and she did say that was good but I appreciate that it only tested for Down’s, Edward’s and Patau so there may still be other chromosomal issues.

We are booked to see a doctor for another scan on Monday and the sonographer said he wil check the heart on the scan and then ‘discuss options’. I have such a horrible feeling about it all and even though I know it’s really stupid I have been googling incessantly since we got home. It feels like for every positive story we find lots of not so positive ones and there is conflicting medical advice on risks when you are around the 4.1/4.6 mm mark. I’m also really worried that as I’m only 11.5 weeks the NT number will be even higher when we go back on Monday.

We got here via IVF so am feeling quite tired from that, sick of anxiety and struggling to feel positive. Sorry to be so negative! Any info about the next steps/stories from anyone who’s had a similar experience (even if not positive) would be so much appreciated!

Thank you xxx

I was in your position about this time last year. NT of 3.8mm so slightly lower, but we were told by the sonographer that the baby was high risk for downs (1:36) and if not downs, probably had a heart condition. She gave no more info apart from rush booking me in for a cvs 2 days later.

2 days later I saw the consultant who did a detailed anatomy scan and looked for soft markers for downs (including whether there was a visible nasal bridge). No soft markers so she suggested nipt over cvs (as cvs has a risk of miscarriage). Nipt came back as low risk and I went on to have 3 fetal cardiac scans which again were fine.

It was one of the most nerve wracking few weeks/ months. Despite the results being fine, I went on to have a very complicated pregnancy and other problems that indicated a genetic condition.

My twins were 6 months old yesterday and the twin that caused all the stress during pregnancy is a perfectly healthy baby boy.

I read SO much about this when I’d had the scan/ high NT and convinced myself it was bad news (I have threads on here asking people for their experiences). Go to your scan and see what the consultant says, but please take comfort from the fact that I read/ spoke to lots of people in a similar position where everything worked out ok.

@Robs20 Thank you so much for replying. It’s a real comfort to hear your positive story and I am so pleased that your twins are both doing so well. I’m sorry you had to go through all that - what a weird and horrible waiting game it is. We ended up going to the clinic that did the NIPT today and having another scan, partly because I was worried about the higher 4.6mm result yst and wanted to understand why we’d been given a final result of 4.1. Mostly, we went because we were driving ourselves mad trawling the internet to understand what the results mean. I know it sounds mad, but waiting until Monday afternoon to see the NHS consultant just seemed too long when we knew so little.

We have been told the risk of Turner’s is 10-20% and that we should get an amniocentesis at 16 weeks. I was hopeful that we could get some answers from a CVS but if it has to be an amnio then that’s what we’ll do. Hopefully the four week wait won’t be too painful but I’m not holding my breath. The baby’s anatomy all looked fine on the scan, including heart and brain but I guess it’s way too early to know anything with any certainty at the moment.

Do you mind me asking why Turner’s was discounted for you and they only recommended the NIPT rather than wider tests? Please only answer if you feel comfortable to, and thank you SO MUCH again for taking the time to get back to me. I posted mid-way through a sleepless night and it was such a huge comfort to get your reply.

@Robs20 just realised that Turner’s only affects girls, so that’s why they didn’t need to check you for that. Feels like you need a medical qualification to onboard all this information!

@Tig2010 they didn’t know it was a girl at the time! I’m not sure how it works but the combined test (bloods + NT + my age) gave the high risk for downs. Nipt was recommended because the consultant saw no soft markers on the scan (I can’t remember all of them but eg no nasal bridge, any heart defects, cysts etc.) so suggested nipt first. If nipt was high risk I would have gone on to have an amnio (I would have missed the time window for the cvs by that point).
Is there a reason you can’t have a cvs rather than waiting for an amnio? I think cvs has to be done by 13+6 but gives the same result as the amnio (which is done after 16 weeks). Again, I think this is true but please check.
Did you get any reassurance today? I guess the fact they found no heart or brain defects is a good sign.

Different experience but my DS had echogenic bowel at 20 weeks scan. This is a marker for a chromosomal abnormality but it can also mean nothing. He was also measuring tiny and I was also quite old! What an absolute shit ton of worry. Literal crying on my knees on the kitchen floor making deals with God. Wish I could go back and say to myself "get up, stop crying, your baby will be fine." He is 8 now and a total joy. But it probably took about a year to accept there was nothing wrong with him.

I have everything crossed for you. Have faith and have hope.

@Robs20 ah, of course it was too early! I’m such a novice - my first pregnancy...I hadn’t even heard of nuchal fluid before yesterday!

Thank you so much for checking in and letting me know about how your baby’s risk was weighed up. The doctor today said he thought it could be significant that our NIPT, whilst being low risk for Down’s, had come back as inconclusive for sex chromosomal disorders. At the time we were told that was just because there wasn’t sufficient baby DNA to do the test but he thinks that paired with the NT level it could indicate Turner’s. He said that amnio is better than CVS at detecting Turner’s. You’re right that CVS is done up to 13 weeks though and I was hoping to have that rather than wait. I guess it’ll be interesting to see if the advice we got today tallies with what the NHS says on Monday.

I do feel so much better than yesterday, thank you for asking:) Have stopped crying randomly and managed to distract myself a bit (although still need to work on the itch to Google and scour MN for reassurance). It was good to speak to someone who could give us so more information after getting nothing yst, although we were lucky the consultant was there (we had only paid for a sonographer and the consultant popped in because he’d seen our results and said he thought he might be able to be useful - really kind of him). He still said a few things that confused me, but that’s because (as demonstrated!) by grasp of the process/science here is pretty poor, and he said a few reassuring things whilst being honest with us that our risks of issues were higher than normal etc. Sorry, what a ramble.

I’m sure the next four weeks will be up and down, but I feel better equipped now to face them rather than feeling completely confused and scared. Thank you so much again for your kind words and for sharing your story. Sending lots of love xxx

@SummerHouse thank you so much:) And I’m so glad to hear your son is well and happy! I can really relate to your reaction to the news - despair, grief and disbelief all mixed into one and I was furious at myself for caring one iota about the sex a few weeks ago (not much, but I’ve always wanted a little girl). Now I just want it to be healthy and happy and I don’t give a sh*t if it’s there for me in my old age, it can do whatever it likes!
I’m so moved by the kindness on here. It’s so appreciated, you can’t know:)

@Tig2010 how are you today? If positive thoughts can do anything then I am sending them your way. You don't deserve all this worry and the amazing way you sound like you are handling it sings from your post (I know it doesn't feel that way at 2am in the morning when your brain goes to some dark places). You deserve a healthy, happy baby and I am wishing that for you. Stay strong. If it helps (and I am not sure it does when you are facing it), I know my worries made me stronger emotionally than I have ever been. To every "what if?" I would just think "I will make this ok" and hope that tomorrow brings some reassurance.

Thanks so much for the lovely message @SummerHouse and for checking in on me:) It means a lot. It’s such a balance isn’t it between not letting yourself despair too much because what good is that going to do right now, but also being realistic and preparing yourself in case it’s not good news. I’ve taken the approach that if it’s bad news, no amount of preparation will be enough and so I’m going to try to focus on the reasons why it could be ok whilst also not thinking beyond the next step (whatever that may be!). That’s how we approached IVF and whilst it sort of sucks the joy out of the process, it ended up being an ok coping mechanism. Do you have any particular coping strategies you would recommend?

We are seeing the NHS consultant today so I hope he echoes was we were told on Saturday. After the shock of Friday, I’m feeling a bit apprehensive, but I guess that’s natural. We got our blood results from the NHS tests over the weekend and they were all within the normal ranges, so that’s a relief.

@SummerHouse my big fear is that the NT level will have gone up - if we are right at the start of the 11-13 week period during which they do nuchal scans, I worry about what the NT level could be in a few weeks’ time. Sorry, I totally appreciate you can’t give me any answers here (no one can!) but it’s good to lay it out as that thought keeps creeping across my mind.

Your coping strategies sound way beyond what mine were. Taking it one day at a time and being optimistic but prepared. I did a thing where I would every night think of three things I was grateful for. It could be people, an experience or something as simple as clean sheets. I think when you go through something like this it's the first two weeks that are the worst then you start to feel stronger.

I think where I went wrong is that I did go into denial a bit and was superstitious about things like having pictures taken (there's only one I can think of being taken after the scan while I was pregnant). Maybe that was a protective mechanism but probably not very healthy.

It's good news about the bloods! And it's good that you are seeing the consultant today. It's a horrible waiting game but any answers you can get (that are not from Dr Google) are good.

Everything crossed for you today that you can take some positives from it.

@Tig2010 how are you getting on? Did you see the consultant and did they re measure the NT?
X

Hey @weivfgotthis - aw thanks for asking! We ended up having a CVS just over a week ago after learning that it’s pretty much as accurate as the amnio and doesn’t give false negatives. Our first results were clear so waiting now for the second lot. I think they’re due early next week. It’s been a bit of a grim wait but weirdly knowing we won’t hear anything this week means we’ve been able to distract ourselves a bit more than we could last week. We also have some an early heart scan booked in next week. Hope all is ok with you?

Congratulations that's great news and such a relief @Tig2010

Did you have the combined bloods? What risk did they come back at?

I had an NT of 4mm plus 1 in 30 Chance of the 3 trisomies
Couldn't have the cvs so I'm waiting on the amnio in a few weeks
We did have a private NIPT so I'm hoping to get the results of that back soon

Agree about the IVF it's a worry and stress from start to finish so we really don't need the added pressure of all this too! X

@weivfgotthis thank you! Still nervously waiting for the second set of CVS results - but very glad that the trisomies came back ok.

I’m not actually sure what our combined risk is but I was told my bloods were ok. The CVS was booked in as soon as we got the 4.1 NT result and that superseded blood stuff I think. We had also had an NIPT at 10 weeks which came back as low risk (another reason why the NHS weren’t so fussed about the bloods we had done with them, I think).

I really hope everything goes well with your NIPT and amnio. If I can be any help or provide any support then let me know xxx

@Tig2010
Thanks so much, I know the wait is horrible!

When you went back for your cvs did they re scan and take the NT measurement again? Was it still the same as your 12 week scan?

The consultant did ours again and measured at 2.5mm which I'm taking as a little positive win whilst we wait for the nipt results and further amnio testing x

@weivfgotthis it was remeasured a few days later at roughly the same but then one day after that (when I had the CVS) it had reduced a bit. Not sure how much I can read into that though because it was only 4 days after the first measurement. It blows my mind though that you can be randomly allotted an apt between 11-13ish weeks and the NT might be ok one day and not the next. If we’d gone on our CVS day then we would probably not be having to do all this (although the consultant only took one measurement of 3.3 that day so who knows, maybe the others would have been higher). I definitely took comfort that it hadn’t increased though and that everything else looked ok on the scan.

Having a bit of a bad day today. Had thought we’d get the rest of the CVS results on Monday/Tues next week, possibly even today, but the hospital confirmed it would be mid-next week at the earliest. The wait is so grim, even an extra few days feel awful! I’m back to swinging wildly between allowing myself to think positively and negatively, which is very annoying because what good does that do?! Human nature I guess!

@Tig2010 I’m in a similar situation. We had an NT measurement of 4.1 and had a CVS yesterday. Our first results should be back mid next week. Even if both results are all good I’m still extremely worried about other abnormalities which are not picked up. What are your thoughts on this? I know it’s such a confusing and emotional time. Sorry if this message is adding to the worry. I hope we can get through this. And if anyone has been in a similar situation with positive or negative outcomes I think this will be helpful to the both of us. Wish you all the best.

@So2020
I am also awaiting further results / testing as you can see from this thread but I am
also a success story from my first pregnancy 5 years ago (DD now 4, happy and healthy)
We had a cystic hygroma at the 12 week scan which is the NT fluid but septated so it looked cyst like and a doom and gloom diagnosis. We got through that and all the testing and scans and came out of the other side with a positive outcome.
Now it's deja vu with my second pregnancy although a 4mm NT not a CH.
So I'm hoping for a repeat good result 🤞
Good luck and let us know how you get on x

@So2020 not adding to the worry at all. I’m so sorry to hear you’re in the same position. I wouldn’t wish it on anyone and I’m always here if you need to chat or ask questions of someone who’s a little further along the process (although not by much I know).

I’m so focused on the immediate CVS results and heart scan that I’ve stopped thinking about other stuff that may not be picked up. But I thought about it quite a bit at the beginning, particularly when I was reading up on the CVS and the fact it doesn’t cover everything. The thought that it doesn’t cover all issues really bothered me at first, and I’m sure that worry will resurface later on (if we’re lucky enough to get there - sorry, don’t mean to sound negative, I just feel like I need to caveat everything atm), but for now I feel ok enough with the slightly heightened risk of issues. My impression is that if the CVS and scans are clear that you pretty much revert to almost normal risk at 20 weeks, and I’ll take the heightened risk if it means we’re back in the 90% chance area of having a healthy baby. Does that make sense? As I said though, I know I won’t always feel like that and I think it’s a very legitimate worry but one that I guess I’m trying to keep in perspective.

@weivfgotthis so lovely to hear your success story and I’ve got my fingers crossed for this one! If it helps, my consultant was telling me the other day about a friend of hers who had a raised NT for all three of her pregnancies and everything is fine with her kids.

@Tig2010 sorry to hear you're having a bad day today
I hate going into the weekend waiting for news as you know it's going to be 2 days of silence. I chased the nipt results today for the same reason and was told early next week so I'm in the same boat as you
Hope you can try and enjoy your weekend x

@weivfgotthis thank you, and you too! Urgh weekend waiting is very frustrating - the only good thing about it is that I’m not paranoid about missing a call! I’ve got everything crossed for your results this week. Let us know how you get on.

@Tig2010
How are you feeling today?
We have received our NiPT test results now which are low probability for all 3 main trisomies, less than 1:10000
Such good news and another little win

They haven't checked the sex chromosomes though which is worrying me slightly. We don't want to know the gender so I'm wondering if this is why they haven't checked these. I have put a call into the company we used to see if these can be checked. They don't need to name them i.e Turners etc and therefore give the game away if they are low risk they can just call it sex chromosomes so I know they have been checked.

Did your first set of cvs results confirm the sex chromosomes as normal?

@weivfgotthis hey! Ah, great news about your NIPT results!! When we had our NIPT we had to ask specifically for the sex chromosomes to be checked, so it may be that they’re not always done automatically. In any event, ours came back as inconclusive due to low fetal fraction. I’m pretty certain the first set tested for sex chromosomal issues (I should have written it down - all I remembering hearing was ‘all clear’ and then she confirmed no Turner’s, but that might have been because it’s a boy). Hopefully we’ll get the results this week, in which case I’ll let you know. Are you thinking you’ll go for the CVS now? (Sorry if you’ve already been over this!)

Thanks for checking in on me! The weekend was very up and down. Feeling a bit better today for it being a new week and knowing we’re at least a few days closer to getting the results. It’s such a slog isn’t it? I’m starting a new job next week so I’m hoping we have the results before then. We also have a heart scan on Thursday but I’m not sure how much can be picked up at 14.5 weeks.