Very high NT but normal blood?

[RW0]

Hi all, I’m new here but reading a lot of your posts has filled me with an inkling of hope and helped my constant state of heart break.
We had our 12 week dating scan last week. This is my first baby and we have been trying for 18 months. It was so emotional seeing its little arms and legs waving round and its little heart beating.
to then be told that unfortunately the NT is 6.5mm!!! That’s almost 4x higher than what it should be. She talked over all the outcomes and obviously my head went into overdrive and I’m googling everything possible and breaking my heart even more.
We opted for the first lot of blood tests that are screening for Downs, Edwards and Pataus, and after they lost my bloods the day that I was meant to have my results back (couldn’t write my luck I swear) I found out that my bHGC is completely normal of 0.65 MoM or 19.30 IU/L but my PAPP-A was slightly higher at 1.95 MoM or 5354 mIU/L.
The midwife said that’s almost double but she has also seen a lot higher so it isn’t too concerning at that level. But because my babies NT is 6.5mm were high risk. The odds came out at 1:2 Downs and 1:3 Edwards and Pataus.

My main thing here is has anyone else had a very high NT but normal blood markers and their baby has been okay? I’m trying so hard not to clutch at straws or get my hopes up but honestly I think it’s too late. Inside I know I’ve convinced myself my baby could be okay and I’m terrified incase it isn’t.

Im back in this week and will be offered the CVS which I will accept but then equally terrified of miscarriage…

I’m so sorry that you are going through this, it is such a horrible worrying time. My NT was 5.6mm. I had the NIPT blood test which is not exact like the CVS and amnio but 99% accurate. It came back low risk for all 3. Are you able to have this? I know our genetic consultant had to request it so not sure it is offered as standard on NHS.

Based on this result, I then refused the CVS and amnio. I am now 25 weeks and everything on the scans look good so far. I had the echo heart scan at about 20 weeks as high NT can also indicate heart defects but all looked good.

I still have a bit of worry about something being wrong that hasn’t been picked up on the scans/blood tests but trying to be positive and now enjoy the pregnancy that we have waited 5 years for!

I hope all the waiting goes quickly and everything is ok. I have read lots of positive stories of high NTs and all being ok which definitely helped keep me going while I was waiting! Sending lots of love!

Hi there
I would request a NIPT too. Our NT measurement was 8mm, and my initial bloods came back 1 in 5 for T13/18 and 1 in 8 for T21. A NIPT came back high risk for T18 unfortunately but it was good to do it as I had the results back the day before I was booked for a CVS - which we didn't go ahead with.

I hope things are ok for you, there are people who have a high NT and it's ok x

Update… we had our meeting with the consultant and he was pretty keen to do the CVS so we went ahead and it’s come back negative for downs, Edwards, pataus and turners! Which is amazing news but I’m too scared to be excited. We now have to wait up to 3 weeks to hear back about the other chromosomal abnormalities it could be and if none then what is it?!
the consultant said an NT so high of 6.5mm won’t be a mistake and dodgy scan and that something will be going on… this is such a horrible limbo to be in!!

That’s great news! I think they will do a detailed heart scan as that was the other thing they said could be the reason for the high NT for me. I had this at 20 weeks as they can check it clearly at this point. Mine was fine so still don’t know our reason. However, we didn’t have the amnio or CVS to check for all of the other syndromes that the NIPT doesn’t test for.

Hopefully everything is going well for you now!
It’s so awful not knowing where you stand and wanting to do right by your baby and you as a family but also being in the dark!
your case sounds promising so keeping everything crossed. I’m just going to try to not go insane these next few weeks!

Hi @RW0, I’m so sorry you are going through this, we are suffering the same at the moment. So happy for you that the first results of the CVS came back negative though.

Had our scan with the fetal medicine consultant yesterday and the fluid was in other places on the body, not just at the back of the neck (first measurement was 6.8mm) and there was a problem with one of the heart valves as well. Did you have any other abnormalities on the scan?

The consultant was pretty pessimistic and offered us a termination straight away but we went for a CVS to have as much info as possible.

It’s awful isn’t it as you can’t help but having a little bit of hope. I do hope it all works out for both of us.

Hi @RW0 I was in your shoes a few years ago. I had a really high NT measurement and was told at my 12 week scan to terminate - the neck measurement was so high (nearly 5mm, IIRC) that they didn’t even want to do bloods. I was very, very upset (obviously) and insisted bloods were done (and I’m not one for pushing for things!). My bloods came back with 1:19 chance of DS, and I can’t remember the Edwards / Pataus chances. However, I had an amnio at 17 weeks and all was fine! The consultant wondered if my baby just had a fat neck (!) and likelihood was my older child had the same measurement too, but it wasn’t picked up.

I had a detailed heart scan at Bristol when I was around 18 weeks and again, all was fine.

It was a traumatic pregnancy, as I was told by every healthcare professional to terminate / baby would be born with an awful / life limiting disability.

However, in my case, this wasn’t true. My darling daughter is now nearly 9 and I still remember the fear I felt in those few weeks when having the testing done and waiting for those results. She is perfectly, perfectly normal (and Stitch obsessed!).

Fingers crossed for you that the rest of the results are clear x

I had a high NT with DC2 and CVS was all clear. The 'baby' is now at uni and very healthy.

But I was desperately worried in those weeks waiting for the results. I couldn't look at the photos from the scan.

I wish you all the best of luck in the world, OP.

@SherlockHolmess so sorry to hear that it must add so much extra worry :-( they haven’t said they see any other fluid and the co sultana said the 4 chambers of the heart look okay at a quick glance so hopeful that everything else is alright… just hate this waiting game!! Fingers crossed for your little one!

it’s so heart warming hearing these positive stories though, thank you. It’s helpful to relate and keeps the hope alive xxx

Hi there,

We are also having quite a traumatic pregnancy so you are definitely not alone. I have 2 daughters who are absolutely perfectly healthy so didn’t think baby 3 would be any different. However, at our 12 week scan we found NT to be 4.5mm. After a structured scan at 16 weeks, everything looked normal but to put our minds at ease, we asked to be referred to a proper fetal medicine clinic in the city, had our appointment at the start of the week and just by doing a scan only a few days later from our 16 week one, our baby is showing symptoms of tetralogy of fallot which is a congenital heart defect (x3 specific things have happened during formation). Whilst this is a very scary prospect for baby 3, we also had the Amniocentesis the same day as this can come hand in hand with chromosomal/syndrome type disabilities (we were originally 1/24ds and 1/13 for Edward’s/patau but then had nipt and came back all low risk). we got our first set of results today that ruled all major common chromosome issues so just awaiting the result lot. If this comes back clear, we are hoping it will just be the chd that we need to take in our stride but we have been advised that not everything has fully structured yet and so other things could potentially arise. I’m not giving up on my baby straight away though, I will see it through to the end and can only hope and pray she comes out and gets to give a long and happy life with her sisters and her mum and dad. It’s the hardest thing I’ve ever had to experience and so I really do understand your heartbreak. We just try to take it day by day and if it gets too much, we talk about it as it helps to process our feelings. I really do wish everything turns out okay for you and your baby, sending love and light x

@RW0 thanks for your reply.

Unfortunately our CVS results came back positive for Down’s syndrome. I’ve done lots of research and had another meeting with the consultant and the outcomes are not predicted to be positive with the amount of fluid present, particularly so early in the pregnancy.

We have been offered further fetal cardiology scans but in the end we have decided to terminate as I can’t bear the thought of continuing any longer and then losing him or having to terminate later once I have felt the baby move and bonded further with him (we found out it was a boy from the CVS).

I wish you and any others reading this for information and hope the very best on your journeys xx

Our CVS tests have come back all clear I could cry! So there is no chromosomal abnormality showing up… but we now have to wait until 21st for our next scan but my head is constantly thinking what could it be with an NT so high?!
The consultant said with an NT of 6.5mm it’s not a mistake that something is wrong but could he be okay?! If the heart looks like it’s developing well and the CVS is clear? And there’s been no mention of fluid round his organs?

the only thing he did see is fluid in his neck, 2 sacks. He it could be something or nothing…

Aaaaah this suspense is awful and I feel like I’ve become so excited that my baby is okay but there’s still a chance he isn’t it’s torture

Hi, how did your next scan go @RW0 ?
I am currently playing the waiting game for my blood work to come back and confirm whether our 3rd baby has DS, Edward/Patau. Our ultrasound showed 5mm NT and afterwards we were taken straight into a side room to speak to a doctor, he said given the measurement and my age (36), that I would definitely be high risk, and offered a private blood test (£295), to bypass the specific risk factor and get the result sooner.
I can’t stop reading things online and I’m driving myself insane!

I’m so sorry @SherlockHolmess hope you are doing ok

Sorry for those going through a stressful time in early pregnancy, it's so hard 🥺

I have a slightly different story, my 12wk scan was all fine, no issues with measurements etc, but then bloods came back high chance for all three trisomies. Naturally we wanted to know, because reading up on Edwards and Patau is scary as hell 😞 but I was equally afraid of the invasive tests because of the risk of miscarriage, so we went for the NIPT which ruled out Edwards and Patau. We didn't have any further testing, and had a beautiful and healthy baby boy. He does have Down syndrome, which we were expecting from the NIPT. He's also a healthy 5yo boy, who loves his friends and school, and with the exception of a learning delay he has no issues - had I not had the NIPT we never would have known, because he had no soft markers at all in pregnancy. We were scared, of course - terrified in fact!! We knew nothing about DS and I panicked about how I was going to "cope" with a "disabled" child. Looking back now I laugh, because honestly he's less of a handful by far than my boisterous 8yo 😂 and things seem so much simpler from this side of the fence. He's just a boy who needs a bit of extra support in education.

Anyway I just wanted to share our story in case it helps anyone, I know how tough this time is, and whatever you decide is best for you is the right thing to do. Love to all xxxx

@ACS416 sorry you’re also going through it! It’s a very scary time and horrible because all you can do is wait which feels like a lifetime!
We have been extremely lucky… Our CVS tests came back negative and we have now had our 16 week and 20 week structural scans and the consultant hasn’t been able to see anything alarming on the scans and baby looks to be forming right! We also now know we’re having a boy 🩵 so we are definitely continuing with pregnancy with high hopes! We were told in the beginning there is definitely something wrong as the NT was so high and he had fluid sacks inside his neck also and there was no chance he would be ‘normal’. So there’s always a worry in the back of my head of ‘what if’… BUT. I count myself very lucky that everything so far has been positive!!

And @Lulumamabear thats so heart warming to read. I can honestly say this whole experience is terrifying but it’s genuinely a help to hear of the positives because it is terrifying not knowing what life will be like and exactly as you said, how we would ‘cope’. So thank you!

I really hope everything goes well for you ACS xxx

The waiting is the worst isn't it? Time moves SO slowly, it's painful. I'm glad you found our story helpful, it's understandable to be devastated with a diagnosis or high chance in pregnancy, I certainly wasn't prepared for it and it was easily the most difficult and emotionally draining time. Wishing you all the luck in the world, and hope you have a positive path ahead, wherever that may lead you xx

And congratulations, it's a boy!! 🩵🩵🩵

@RW0 reading this gives me so much hope and I really hope my storie follows yours. Baby has an NT of 6.6 and I have read everywhere that there’s just no chance of an NT that high and everything be ok! I have my CVS on Wednesday!

Just to update my posts, I’ve now got my perfect baby boy and still don’t know the reason for the high nt. He does have mild talipes which we knew about from the scan and my partner has family history of this so it wasn’t a shock. Our consultant gave us little hope at 13 weeks and very glad we didn’t listen.

@L375 are you the same user as @RW0 ? I was just trying to look back at your posts but can’t see the details of your circumstances. Either way, so glad you have a lovely healthy baby!

No, not the same person 🙂

We had an NT measurement of 5.6mm, we only had the NIPT blood test which came back fine. This doesn’t test for as much as the amnio or CVS which we didn’t have. I do think the consultants can be very negative.

It is so hard, especially the waiting. I hope yours comes back ok.

@L375 ignore my last post! I’ve just found your original comments!

@L375 congratulations!! I’m so happy for you!! It’s crazy coming back to this post. It just bring back all the worry and fear in those first few weeks when everything is unknown so I’m so happy you got your healthy baby!

@NGF89 good luck with your CVS today! My results came back quite quick so hopefully you don’t have to wait too long. I now have just under 8 weeks til due date and still nothing showing up on scans so praying he’s okay! I know it’s a really difficult time right now but trust your body and try not to get too stuck in your own head. And if you haven’t, reach out to people you can. You will be shocked how many people are going / have been through this! We didn’t tell anyone about our baby until 16 weeks because of the un-known, constantly stressed, however as soon as we spoke out so many people related and it was quite comforting knowing you’re not alone as I know that’s how it feels xxx

Just for everyone that was following… after being told to abort and handed counselling leaflets because ‘there was definitely something wrong with our baby’ and it was highly likely to be chromosomal… he is almost 6 weeks old and so far so perfect!! I couldn’t be more in love. There is hope xxxxxx