Nuchal fold measurements

[Tillyfloss1]

Hi everyone,
I've had my 12 week scan and whilst baby heartbeat and size were fine, my NT measurement was 4.4mm. I've had bloods done and the fetal medicine doctor told me that without this it is very difficult to say much more and they will call me in the next 3 days. I'm 39 and this is my third pregnancy, first was ectopic, second normal and I have a two year old daughter. I don't remember what the NT fold measurement was at this stage for her but it obviously wasn't clinically significant.
Does anyone have any experience of this? I know it's only an indicator at this stage but I am worried and upset whilst waiting for the bloods and I'm concerned because of my age. I had the moment of relief when I saw the flickering heartbeat and little legs kicking then the sonographer took the measurements and explained the issue.
Thank you in advance xx

[SunnySideUp2020]

Hi @Tillyfloss1
I am not a doctor nor a MW but from the NT measurement and your age, your screening for trisomies will most likely come back high risk and i guess they will ask you if you would like further (more or less) invasive testing.
Have you thought about doing the NIPT at all?

[Tillyfloss1]

What's the NIPT? X

[SunnySideUp2020]

It's a blood test. It might also be called harmony test. Check the link with all the details.

fetalmedicine.com/harmony-test

[Tillyfloss1]

@SunnySideUp2020 thank you x

[Screwcorona]

Hi.ive had my 12weeks scan today and they said if your chances are high you get called within 72hours. I know it's not an immediate answer but 72hrs is not horrendously long. No news is good news

The neck measurement alone can still mean nothing so please dont panic

[doadeer]

It's awful waiting 💐

Our NT was 4.7mm but we were immediately taken to a counselling room and it was just horrible. They made it sound like our son definately had downs. They booked us to have a harmony test at another hospital but when we got there they said you need to have CVS to screen for other potential conditions. It was a week before we found out no downs syndrome and another week to find no heart defects.

My son was born perfectly healthy he is nearly 2 now.

It's a horrible time, I really feel for you 💐

[Tillyfloss1]

@doadeer I felt exactly the same - I was moved into a quiet room, made a cup of tea, security escorted my husband in who had been waiting in the car park because of covid, the fetal medicine consultant was beeped and arrived within 30 minutes - an excellent service and they were extremely kind but they have made me feel as if something is definitely wrong rather than the chances at this stage being being higher. The midwife even told me to hold off booking my 16 week appointment "as it might not be needed". I was told the same about the harmony test, that I may as well have the CVS. The waiting is definitely the worst. I'm so happy to hear that your little boy arrived safe and well and thank you for replying to me x

[Jodie89x]

Hi! I can relate to your post. I’m currently 22 weeks but at our 12 week scan we were told our nt measurement was slightly raised at 3.7mm meaning an instant referral to fetal medicine. I was beyond terrified! They also told us to expect a phone call with blood results rather than the letter as it would “definitely be a high risk result”. A week went past and the phone call never came so we went along to our appointment at fetal medicine where they told us our results had come through as low risk (meaning they had sent a letter instead of the phone call). I was so relieved, they did a scan at the fetal medicine where everything looked good and we chose not to do a cvs cause I personally didn’t want to put myself through it when our risk had come back as low. Meaning there was more chance of a problem from the cvs than there was of there being an issue with baby.
We chose to instead have a fetal echo and our anomaly scan done at the fetal medicine unit. We had this a few weeks ago and everything looked as good as can be so I’m feeling more and more positive.
Obviously I still have a slight niggle in the back of my mind cause of the high nt but I’ve read so many positive stories I’m really trying to be hopeful that everything will be ok!
Sending you a hug cause it’s a horrible thing to go through.

[Jodie89x]

Also forgot to say, my first pregnancy was ectopic and my second a healthy baby (now 2 too)

[Tillyfloss1]

Thank you @Jodie89x that is so positive. Wishing you all the best for the rest of your pregnancy. I've been told to call by midday tomorrow for the bloods if I've not heard and just trying not to panic. Since the ectopic I was very much fixated on conceiving (I lost a tube) and then this baby being in the right place. My mind just wasn't really on what else can go wrong once I had got past those things. Praying for good news xx

[Jodie89x]

Thankyou @Tillyfloss1 and all the best to you too! Fingers crossed your blood results will make your risk low. Even if not though I’ve still read so many positive stories so keep hopeful! I know it’s so hard.
Yes I also lost a tube with my ectopic and same with both my last pregnancy and this one I was more paranoid about baby being in the right place too!
Sending you so many positive vibes for tomorrow!

[Tillyfloss1]

So I have had my blood results back and for Edwards and Patau my risk is now 1:4200 but for Downs is 1:45. Apparently this is based on my age and the NT measurement as the bloods were 'normal' and didn't affect the ratio. So really the blood results were as good as they could have been. Am waiting now for a fetal medicine appointment and an additional scan before deciding on and additional tests but I have indicated I would (I think) like a CVS but a lot to compute.

[yawnyawn4]

Bless you op. DD1 was high risk for DS. In my experience fetal medicine are amazing but I remember the wait being agonising.

[Meomeomeo]

@Tillyfloss1, have you considered Harmony test? Could you get to the Fetal Medicine Centre in London. They are absolutely fantastic. I have heard of people who was given 1/5 odd from NHS and was cleared via Harmony. If you do indeed need CVS, they will do it for free as part of the package.

[Jodie89x]

That’s good news that your blood results were normal! I’m 31 and my nt was slightly less so that’s perhaps why my results came back through as low risk (although only slightly at 1 in 163).
You will hopefully feel slightly better when you have another scan. How pregnant will you be? They managed to do a mini anomaly for me as I was 14w3days when I went to fetal medicine. I found that really reassuring cause we could see that everything at that point looked as it should.
We also considered the harmony test and would have definitely opted for this in the first instance had our risk been classed as higher.
So much to think about but I hope you have some peace of mind today with the bloods being ok.

[Tillyfloss1]

I've been offered a CVS this coming Tuesday. They said if I accept this then I won't have another scan beforehand, they'll just do the test. I don't think I'm going to go ahead with it and looking for places local to me (Manchester) to get the harmony test (although I know this is not diagnostic). I thought I could always have the amnio later if this gave me a high probability or if I still needed to know for certain. What are the reasons why people would opt for a CVS over an amnio? I'm trying to figure out whether I should just get the CVS on Tuesday or not. I'll be 13+2 at that point

[Tillyfloss1]

Update for anyone in a similar situation that is searching for info as I was. My first set of CVS results was clear, now a week to wait for the second set and a fetal echo booked at 16 weeks. My initial results were a 1 in 49 for downs with a 4.4 NT fold x

[doadeer]

My NT came back 4.7mm, I was 29.

I had CVS clear for downs etc, clear for any heart defects.

It was a HORRIBLE few weeks but I've got a beautiful 2 year old now.

Wishing you luck and sending support 💐

[Stacylouise14]

I also went through this My daughters was over 6mm she also had a cystic hygroma, I was sat in a room after my 12 week scan and basically told to think about a termination as there was a 85 percent chance she would be severely disabled, every Dr basically told me it was bad, after numerous tests, scans, placenta biopsys, heart scans, stress and me deciding to carry on with my pregnancy my daughter was born absolutely healthy!! She is now 6 and the biggest sassiest diva ❤️ xx

[Tillyfloss1]

@Stacylouise14 so glad to hear everything worked out for you and your sassy six year old - I also have a two year old girl that is working up her sass levels every day!
I discussed this on a different thread but whilst the NHS have been great in terms of the testing they have offered and the quick turnaround, they have also been extremely pessimistic and the consultant who performed my CVS mentioned terminating the pregnancy several times, even saying if I couldn't bear the uncertainty of waiting for the CVS results I still had that option. It has made me feel like something is definitely seriously wrong. I suppose they need to make you aware of the worst case scenario. I see each stage of testing as a step towards a positive outcome so I'm just hanging on now for the full set of CVS results. These threads have been such an incredible source of information and support so thank you ladies xx

[Stacylouise14]

@Tillyfloss1 I completely understand how you are feeling, I felt the exactly the same, every Dr I spoke to was negative, Willow also had a cystic hygroma which is like a type of tumor on her neck, everything I read online medical was bad! The only thing giving me hope was these forums. I found out I was having a girl at 14 weeks due to the testing because of the chromasomes. I was having nightmares because I was so worried, the longer it went on the more attached I become, they told me I was looking at patau or edwards syndrome or that I may not even carry full term, it was forums like this keeping me going, the testing went on until I was 24 weeks, we went back for another echo scan of the heart at the fetal unit and the hygroma had gone, just disappeared so they said the choice was mine basically, they obviously couldn’t test for every genetic disorder but what they could all come back clear. I continued with the pregnancy obviously and she’s perfect! Very bossy and stubborn but perfect. Obviously I can’t tell you that yours will end the same way but it’s hope and I’m sending lots of love and positivity your way. ❤️ Was you by any chance poorly early pregnancy?? I had a very bad case of tonsillitis and a lady who scanned me said she went through a similar thing and was poorly early on and wondered if there was a link xx

[Tillyfloss1]

Hi @Stacylouise14 so glad to hear of your happy ending. The waiting and worrying is one of the worst things I've ever been through. I had really bad morning sickness and fatigue this time around but nothing like tonsillitis or anything. However, I have read (having spent hours on google in the past couple of weeks, perhaps unwisely) of someone else that had a nasty virus in the early weeks and this was seen as a possible cause of her high NT measurement (baby was all fine). I'll try and find it again and post the link. I don't really have much of an idea of the kinds of things that might come up in this second set of testing except that the midwife said they were much rarer. Just hoping and praying all is well xx

[Tillyfloss1]

Update for anyone searching these threads, second set of CVS results have come back normal, baby described as "chromosomally normal". Heart scan next week

[Meomeomeo]

Congratulations 🥳

[Simz01]

@Tillyfloss1 how was the heart scan? So pleased to read that your results came back clear.

I have a similar story, 12 week scan had high NT and no visible nasal bone for one of our twins. Had CVS which came back clea, and the fetal echo / heart scan too which looked fine. x