Nuchal fold problem detected on my 12 week scan

[junebug8]

I had my first scan yesterday at 11+5 and the midwife picked up a problem with the amount of fluid behind the neck (Nuchal Fold?). She measured it at 4.2mm, and the normal range is up to 3mm. I've got another scan Thursday in the fetal medicine unit at St Michael's Bristol (I live in Cardiff but Cardiff couldn't arrange the extra scan till next week), and depending on the results of that will then have a Chorionic Villus Sampling test done to look at the chromosomes and see exactly what the problem is. Everyone I spoke to yesterday was helpful and kind but I feel somwhere between overloaded with information and totally lost. They've told me it could be a chromosomal problem, like Downs or Edwards Syndrome or Turner's Syndrome or a heart defect or even a virus. It could be something that means my baby would live for barely hours after birth. They said as well that it might be nothing, but it is more likely to be a problem than not.

I saw my little baby wriggling around like mad and waving at us and now I have an envelope of scan pictures that I can't bring myself to look at. Yes, it could be fine, but it could also be something awful that would mean I might not be able to carry on with my pregnancy. I'm a bit of a state, and I'm really hoping someone out there has gone through/going through the same thing and can offer me any advice at all. :(

You poor thing. It is so shocking when something untoward is discovered on a scan and there is no easy way to deal with it all as the testing and results are just a terrible time. There are good news stories too, but you might find it would be better to post on the board below as there are maybe more mums going through what you are experiencing there:

www.mumsnet.com/Talk/antenatal_tests_choices

I also recommend that you get in touch with ARC. They are a wonderful charity that support you through testing (you can just ring them up and they are just so helpful).

www.arc-uk.org/

Take very good care of yourself in the meantime.

Oh Junebug - so sorry to hear you're having to deal with this. It is a very stressful situation to find yourself in. I strongly recommend following lucy's suggestion of posting on the antenatal tests and choices board - this is exactly what most of the threads in there are about and there are many wise words to be found. Fingers crossed for a good result. xxx

Thanks lucy101, for your kind words and the links. Am (probably obviously!) quite new to this site and didn't know that board was here so will post over there as well. x

Hi Junebug. I had a raised nuchal fold measurement when I went for my scan at 13 weeks, I ended up having an amniocenticsis (sp?)at 18 weeks which was absolutely terrifying and very difficult to wrap my head around. Luckily for me everything was fine and the results showed that my (now 7 months old baby boy!) had absolutely no chromosomal issues at all. I can completely sympathise with you as this is a horrible horrible situation.

Did anyone talk to you prior to the scan what they were looking for? I find that is the problem with many of the antenatal screening tests we offer at presesnt. People are not properly counselled prior to taking them up. Especially scans as most view it as an exciting opportunity to see the baby (which of course it is) but there is also the potential to find out very distressing news.

I second the ARC recommendation. A wealth of knowledge.

I know this is going to sound awful but have you thought about what you would do if there was a problem, such as down's? In my case I knew I would find it very difficult to cope with a child with special needs and knew I would terminate if any problems arose. If you know you wouldn't terminate no matter the issues it might be better to not have furter testing?

Good luck with everything xx

Sorry Junebug, I meant to add, the CVS does carry a risk of miscarriage (as does an amnio but CVS is higher as more invasive) so it is worth thinking about these next steps very very carefully.

For me the most important part was knowing. I had to know if there were any problems once the possibility had been raised. I knew I was taking a risk with my unborn baby's life (which looks terribe in black and white) but for the sake of my existing family I had to know.

I really feel for you. x

DrMcDreamy, thank you so much for commenting. Before the scan, I had no idea that anything else was done other than dating so it came as a real shock, especially because I had declined to have any separate diagnostic tests . Did you get the results back quickly after the amnio? I think with the CVS they can give me some results (Downs, Edwards, Patau and Turner Syndrome) after a few days but the rest will take two weeks or so.

Me and my husband have talked (now we can actually talk about it without bawling!) about what we would do if the tests came back with bad news and we are of the same mind as yourself, so we do think the tests are worth going through, as unpleasant as they may be. I completely agree with what you say at the end of your second comment as well. As soon as we knew that there was a possibility of a problem, I couldn't not know more.

I'm very happy to hear that your tests were negative and you have a healthy baby now. Every single story like that gives me real hope! x

Oh Junebug you poor thing. Easier said than done I know, but I'd say stay strong and try not to worry yet. It might be a problem - but equally everything might be fine. I had amnios with both pregnancies (both fine and not nearly so traumatic as I thought they'd be). This is the downside of antenatal screening - it makes yopu worry like mad. The upside of course is that ultimately it will hopefully put your mind at rest. I'd say have the tests and hope for the best - nothing you can do now will affect the outcome anyway. Good luck and lots of hugs.

Hi Junebug8,

We went through the same experience a month ago and are still not completely out of the woods now so know exactly what you're going through. We too had declined to have the combined test but like you the scan showed very clearly that the nuchal fluid was raised above the normal threshold - ours was 6.7mm - so they had to tell us.

I was immediately offered and had the combined test, including the blood test and the next day was given a 1 in 6 chance of the baby having Downs Syndrome (although they did point out that this means 5 babies with my results would not have it). My blood results gave us a little bit of reassurance as they were not high risk for the most serious chromosomal problems - Reynolds and Patau Syndrome. We were told similiar things to you - could be nothing, could be a chromosomal problem or could be a heart or other structural defect.

We were referred to St George's Fetal Medicine Unit in London and had CVS a couple of days after the scan as we felt the measurement was so high we needed to know what was happening. Thankfully, we had the quick results (for Downs, Turners, Reynolds and Patau Syndrome) back as clear within 4 days and then the full analysis, also clear in 10 days.

We've since had an early anomoly scan with a specialist at 16 weeks and that found nothing untoward - and the fluid had greatly reduced. We also had an early heart scan that day and all seemed to be functioning fine but it was too small to properly see everything so we have another at 19 weeks (25 Oct). The cardiologist did think the right side of the heart was smaller than the left but said it was still good size and functioning normally so this may be our answer. Hopefully things will be fine when we go back. If there is a heart defect then there is a good chance it will be something small that some babies might be born with and never know about.

I found both ARC and the mumsnet antenatal tests board vital in helping me cope while we were deciding what to do. There were other mums there with very high nuchal measurements who have come out the other side with healthy babies.

I was very worried about the CVS because of the miscarriage risk but for our hospital we were told it was 0.7% - so more than 99% of women having it there were ok. We were lucky in that my placenta was in a very accessible place so there were no problems taking the sample. I didn't watch when they did it, just made a huge effort to keep still, breath slowly and try to relax. It didn't really hurt me anywhere near like I'd expected and I didn't have any pain afterwards (although they do say some women will). I went home and spent the rest of the day in bed and then took it easy for next few days - was off work anyway as I was too upset to go in until I knew what was happening.

Sorry this is so long, but hope it helps. The not knowing is awful and even though we have got the main tests out of the way now I'm still terrified about our next scans, just in case. Thinking of you.

XXX

Thank you so so much ClareZee, that was really good to read. I think the worst part about this whole thing is the not knowing. Right now, it could be anything from the best case to the worst case and a squillion things inbetween! It is very reassuring to read stories from people who have been in the same position and who have/are getting through it. I can only imagine how scary each scan must be for you and will keep my fingers crossed that it all works okay for you as well. I'm glad to hear that the CVS doesn't hurt as I am worried about that too. Anyway, thank you again, it means a lot to hear from everyone on here. x

Sorry to hear that JuneBug, I know how anxious you must be feeling, it's awful to feel you have to restrain yourself from engaging with what should be a happy scan, but things can change.

I had odds of 1 in 5 for Down's after a scan immediately prior to 11 weeks, with 4.3mm thickness. This went down to 3.6mm by 11+3 and odds to 1 in 68 along with bloods.I had a CVS and was all clear. This was done by a private unit, and when I finally had my NHS test done at 12+6, my thickness had gone down to 1.6mm, and with bloods I was given 1 in 638 chance.

I know it's a very worrying time, but try to keep positive. CVS appears to be safer than we think, and the odds are in your favour: though I was devastated with my odds of 1:5, that actually meant 80% chance of things going well. Take care.

Hi JuneBug,
Really sorry to read your post. Try not to worry and just wait and see what they say at the next scan and take it each day at a time.
I have had good and unfortunately bad news over the years with nuchal scans so I know how awful it feels to not know what is going on - it's easier said than done to not worry so just stay strong and try and get yourself through each day until you have some more definitive information.
My first pregnancy had a NF measurement of 3.5mm and was pre blood tests so they recommended it was borderline and I should have a CVS or amnio. We had the CVS done privately and were told by a very experienced consultant that the risks of a CVS look a lot worse on paper than they are. He said the NHS figures quoted in a leaflet we were given are the worst case and can be out of date, his personal rate and that of similarly good consultants he knew was more like 1:250 of something going wrong. That made us feel a bit better for doing the CVS sooner than the amnio which I really felt like mentally I couldn't cope with waiting until 16 weeks.
Bye the way he also saw the nasal bone and said that was a good sign, so you could ask them to look for that at the scan - though I'm sure they will.
Our DS is now nearly 5!
Unfortunately our next pregnancy was not so good, the nuchal fold was nearly 8mm and turned out to be Turners. (It is worth noting is there were a LOT of signs that the baby was ill :( )
Don't want to scare you with any of the above but just say I'm really crossing fingers for you. MN is a great place to find people to chat to which at least helps to pass the time...
Lets hope you see someone really nice tomorrow and if do have a CVS it is really not that bad and just try to relax afterwards and take it easy.
Good luck,
xxx

junebug i dont have any experience of the high nuchal fold, but just wanted to ask who did your scan? was it through uhw? if you didn't want to wait could i suggest going to spire for a private scan/blood test? i had mine done by Mr Beattie and he was fab.

i know going private is not an option for everyone but imho, it was very much worth every penny.

fwiw if he picks up any issues at the scan i think he will then see you through the uhw for cvs/amnio etc.

hope it works out for you.

good luck xx

Thank you everyone again for your comments, it has been really fantastic to hear from everyone and your kind words have really meant a lot.

Yesterday was my scan and consultant appointment in Bristol and I am feeling so, so much better! After quite a lengthy scan, my consultant told me that he measured the NT at 3.6mm (down on the 4.2 measured at Cardiff) and gave me a risk factor of chromosomal problems of 3%!! Considering the midwife at Cardiff initially advised us that it would be 50/50, I can't even put into words how much better I feel!

We decided to go ahead with the CVS as with even a 3% chance, we really wanted to know and we will get results from this on Tues or Weds next week but the doctor (aah, so annoying I can't remember his name!) told us he was feeling confident.

I am a bit sore today after the CVS (which didn't hurt itself at all, they said also my placenta was very accessible and that the procedure had gone as well as it possibly could do) and still feel a bit all over the place, but it is gradually sinking in that things might not be as scary as they first seemed. We're in a sort of holding pattern now I guess till the results come back, and I still can't quite bring myself to look at my scan pictures or consider the future of my pregnancy but I can at least breathe a bit easier.

mumatron - Mr Beattie is the consultant I have beenr referred back to at Cardiff now, so I am glad to hear he is nice! Fingers crossed that don't get to know him now :)

(I posted in antenatal tests thread as well and have copied this over there too)

june glad to hear things have improved. Mr Beattie is a lovely man, he treated me for my recurrent miscarriages and i give him the credit for me staying pregnant this time. he has a much better than average risk score for the cvs aswell. i think the hospital average is 3% but his personally is just a bit lower than 1% i think (might be wrong though)

where did you have the nt scan done in cardiff? was it on nhs? i ask because it wasn't offered to me, thats why i ended up going private.

all the best and hopefully you will be able to relax and enjoy the rest of your pg soon!

Didn't want to read and run - sounds like you had a really supportive bloke at Bristol and are reassured by what he said - fingers crossed for your results next week!

Hi mumatron, NT scan was what I ended up going to Bristol for. After I had my dating scan and they realised there was a problem, a midwife from Fetal Medicine at Cardiff spoke to us and said we needed a further scan to clarify but they couldn't do that in Cardiff until the following week. I didn't even realise that's what we had been referred for until we got back home - I really hadn't take in any of what had happened after they told us things were as they should be!

Hi Junebug. Please don't worry. I had my CVS on 13th October and results are thankfully fine. My Nuchal fold is 2.1mm but my risk was high because of my age (42). Apparently 95% of CVS's come back normal. Also the skill and experience of the consultant is the most important thing regarding risk of MC. I had mine done at UCH London which was fantastic. Good good luck and let me know xx

Junebug, out of interest - was this at Landough or the Heath?

My SIL had her 12 week scan at Llandough and was told that her nuchal measurement was 'the thickest I have seen this year' and immediately referred for a CVS. She wasn't even expecting the nuchal fold to be tested as it's not part of the NHS scan in Cardiff.

However she already had a private nuchal test (With bloods which is the proper way of testing) arranged for a couple of days later and when she had that the measurement was actually 1.8mm. The private clinic told her that the sonographer should never have taken teh nuchal fold measurement as it was unlikely they were correctly trained and they should never have said that it was 'the highest I have seen this year'. My SIL was un-neccesarily put under an imense amount of pressure to have the CVS and they also told her there was no point having the private test which was utter rubbish as a nuchal test should include the bloods taken on the same day.

I wonder if perhaps there is someone at Llandough doing these measurements when they shouldn't be?

My SIL was told hers wa 4.5 BTW and the person who re-measured privately was Mr Beattie who was really very annoyed that she had obviously been measured incorrectly.

I find it really odd that Cardiff hospitals are now taking the nuchal fold measurement because they really really should not be doing it in isolation/without bloods.

I was told that an increased nuchal fold as a stand alone result is just a soft marker whne it comes to biggies like downs etc... and neede to be part of the whole test to give an acurate result? we didnt do NT with this pregnancy although they are looking at nuchal fold for other potential problems i had with my DS,Im surprised they are allowed to identufy soft markers to patients. It must be different here in Aus!

I really don't think they should be to be honest. The NHS here in South Wales doesn't offer nuchal screening so it makes no sense that people going for a 12 week dating scan are being told what the nuchal thickness is without any warning. My SIl wasa really taken by surprise and was very upset. Good thing she had the correct test done a few days later. All this really does worry me.

that is my concern df

they don't offer the scan so why tell people without warning.

i doubt the sonographer has much experience of nt scans as they aren't offered here.

glad things were ok for your sil. i would of been fuming!

I was on her behalf but she won't complain because she thinks she may get the same sonographer again at some point :(

I was just to interested to see that the OP is in the Cardiff area too and wondered if the NHS here is now generally surprising people at their 12 week scan with information they may not even be trained to give out.

i had a trainee at my scan and i had more chance of measuring the fold than she did

i have heard they are supposed to be offering the nt scan/bloods to everyone soon, but you can't just announce to someone who is cluless that there is potentially an issue.

lots of people i know aren't aware of the nt scan as it's not something we have on offer here

and what about people who opt to not have any tests?

Hi DuelingFanjo, it was at Heath. I was really surprised that they picked it up at what I thought was just going to be my dating scan. The midwife was quite quick to say that she wanted a second opinion as she didn't normally look for the NT but couldn't help but notice it this time but I was still pretty shocked (along with a squillion other emotions!) at how I was initially told.