Very High Nuchal Fold Measurement

[katiecubs]

Hi Girls,

I hope you are well. This is my first post here as I really need some advice.

I went for my 12 week scan on Tuesday and was delighted to see a lovely little baby on screen but then the room went quiet and the sonographer hit me with the news that the baby?s neck was very thick and almost definitely had some sort of chromosomal disorder. I was shocked to the core, I had worried about a MMC or something similar but I?m only 29 and never thought that something like that could happen to me (although I know it can happen to anyone).

The baby actually only measured 10 weeks 1 day at the scan so she told me to come back next weds and to see a consultant who would do the full NT test. I think she said that the fold was 5mm which I have since leant is very bad. I?m now driving myself mad with worry, I asked her twice and she said there was not much hope for my baby. Soon as she couldn?t do the full test though I?m not sure how she could be so sure? I thought it was only indicative and the only way to get a proper answer was to do an amnio or CSV.

Anyway sorry for the long rant I basically just wanted to know if anyone had been though this and had a similar experience to me? do you think there is any hope for my baby at all?

Thanks very much for listening.

Katie xx

I'm sorry the sonographer said that. Its not certain there's a problem even with a high nuchal and it mights have been too early. its not 100% accurate by any means..
So yes, there's hope your baby does not have a chromosonal disorder.
But even something like Down's syndrome isn't the end of the world.

Sorry, I have no advice as am clueless about this but couldn't read and run. It sounds awful though and not very professional that a sonographer would put it so bluntly without further tests but I'm sure that's the least of your worries

I hope someone more knowledgeable comes along to reassure you x

Katie I'm so sorry the doctor handled this in such a way. I really hope you can get through the next week without driving yourself insane with worry. Did the sonographer imply there was "no hope of survival" or "no hope of good news"?

There are lots of ladies here who have had babies diagnosed with a chromosomal disorder and their thoughts and strategies are all so different - so I'm sure you'll find guidance whatever path you choose to take.

Good luck for the weekend.

Hi,
sorry you are having to go through this. Ds1 had a nuchal measurment of 4.6mm and ds2 of 4.8 mm, we were told with both they had a high chance of chromosonal abnormalities, both are absoloutely fine and healthy boys. With ds1 I was 18wks when they found out so we did nothing but just waited, with ds2 I was 14 weeks so I did have an amnio so we would know, the result was clear. Both boys do have slight heart problems ( ds1 has a murmur and ds2 has pulmonary vlave stenosis) and they think that may be linked to high nuchal fold aswee.

Listen to the doctors, ask as many questions as you need, dont be bullied into anything and make the decisions about your baby yourself

The thing is i'm not sure what they implied i was so shocked i didn't ask any of the right questions. Having since read up on it quite a bit i see there are people out there that say there is a chance even with that high a measurement - i just wish she had not been so unhopeful and left me in limbo like this. I did get the impression that when the fold is as high as mine a miscarriage in the next couple of weeks is quite likley. I'm just hoping and praying that she did the scan wrong (apparently it's difficult to do it accurately before 11 weeks) and next week when i go back it will be better news!

thankyou missmapp by the way, that's very encouraging to hear and i'm glad your boys are doing well! She did not mention heart problems as a possible cause either - the more i think about it the more angry i get. I was just rushed in and out very quickly and they really didn't explain much to me.

get in touch with your mw and ask her though if the baby is measuring 10 weeks it could be too early to say so waittil your 12 week scan and see. hope all is ok

Make sure you have someone with you when you go back, and I would take a list of quests you want to ask, consultants have a way of making you feel about 2inches tall sometimes, but remember any decision is yours and they have to give you all the info you want.

I think you should try to ignore a little of what the sonographer said. I really don;t think it's her place to comment on whether your baby has 'no hope' or not. Your consultant is the best person to advise you so wait until you have another scan and speak to them. They should be able to do the NT combined with a blood test for more accurate odds of anything being wrong.

(We had a horrific 20 week scan (spina bifida) and all our sonographer would say was that she'd seen indicators of spina bifida but that we had to speak to our consultant, as she wasn't allowed to say much more.)

Fingers crossed you get some more positive news at your next appointment.

How awful for you. I remember having this myself, and it's as if the floor has just dropped away beneath you. I assume the sonographer was wanting you to be aware that the news might not be good, but given you are going back for a full/detailed scan with the consultant, she shouldn't have said there wasn't much hope, it wasn't helpful.

If you ARE worried at all, I can really recommend ARC (antenatal results and choices). They have a helpline and the lady there is very kind.

I really feel for you - and it is terrible to be in a limbo time of not knowing quite what is going on. But whatever the results are, you can love your baby during this time, and send him or her peaceful thoughts.

I understand that you are worried, having been told what you were told in such an insensitive way, anyone of us would be worried. I don't know where you had your scan but a comprehensive 11-13 week scan should look at a lot more markers than just the NFM before anyone could make such a statement as your sonographer did. When you go back for your second scan, the baby should be bigger and it will be easier to take the various measurements in order to give you a better (but not conclusive!) idea of the risk of your baby having DS. In the scan I had, they looked at the following indicators:

• Size of FM
• If the nasal bone is present or not
• Liquid behind the baby's neck
• Your (the mother's) blood tests

These factors will then be taken into consideration and adjust your age-related risk (which, as it implies is the risk of carrying a baby with DS only based on your age). The end result with be a statistical measure something like 1:3000, which means that there is a risk that 1 woman out of 3000 with the same test results as yourself will carry a child with DS. It is then entirely up to you to decide what to do with that information. A NHS guideline states that 1:250 (but I have also seen 1:100 and it will vary depending on where you have the scan) is classified as a high risk. If you are in a high risk category you should be given the choice of having an invasive scan - which is the only way to assertain if your baby has DS (but carries a risk of miscarrying). You should also be offered councelling if you are in the high risk group.

I know it is so hard but try and stay positive and to keep your mind clear so that you can write a list of questions you want to ask. It is your right to be fully informed of your results in a way that you understand and can base any decision on.

Like some of the other posts here I have heard of perfectly normal babies having an abnormal NFM.

I really hope all goes well for you at the next scan.

Hi Katie, I had an abnormally high nuchal fold measurement with my dd. It was almost 5mm too. And they could not find the nasal bone (which is indicative of downs). I was scanned and rescanned and then internally scanned while they searched for the right pictures to clarify the situation. Eventually they found a picture which indicated the presence of a nasal bone. This brought my risk of having a baby with a chromasomal diorder down quite a bit but I was still high risk because of the nuchal fold measurement. I had a really insensitive consultant who began to talk immediately about termination which horrified me. We decided to take our risks as they were and carry on assuming all would be well. Thankfully, it was. I wish all the best for you. I hope you have someone who can come with you next week to help you make sense of what the doctor says.

Oh this brings back so many memories and makes me .

The same happened to me, except as well as a high nuchal measurement they thought they saw an exomphalos. Consultant who we FINALLY saw 6 hours later said that in all probability our baby had Edwards syndromw and would probably not survive, and started talking about terminations. We were devastated and asked for more test.

We were referred to a specialist unit for more tests and a CVS.

The first imprtant point they raised was our dating. Apparently the exact age of you baby makes a huge difference when measuring nuchal translucency. (and looking for other soft markers like exomphalos...). So that's one thing to bear in mind. Turns out our baby was younger than we thought.

Secondly when they re-measured (with better kit and a more qualified person) they adjusted the measurement - it wasn't as large as the first scan had suggested.

We still ended up with a high-ish ratio - about 1:100 I think although can't really remember. So we went for a CVS, which wasn't fun but not awful.

Got the results bck after a couple of days and it tunred out that DD was fine - and indeed she is, 21 months and a little bundle of laughter and energy.

I'm not saying everything's going to be fine, necessarily, just that you can't know yet. And niether can your sonograper who simply isn't in a position to make those kind of calls at this stage, and IMHO is very very worng to. She could have encoouraged further investigation without upsetting and panicking you like she has.

As you said, these are soft markers only - not a conclusive result even if measured correctly says nothing for definite.

I really am and that you have had to go through this too.

Get all the opinions and further tests you need. Demand to speak to someone more qualified and take back up - partner, mum or best friend.

It's pointless my telling you not to panic when you obviously are going to, but try to hold on to the fact that nothing is conclusive yet ? really it's not.

TBH I'd ask for a referral to a Fetal Medicine Unit, like now. Scrap that, DEMAND that they refer you. You can't be expected to wait a week after news like that. You'll probably have to go down there, but I feel if oyu make enough noise they should sort you out.

Best of luck. Will go and fume on your behalf.

db
xx

katiecubs I would second ringing ARC. They are lovely and will give you neutral, informative and sympathetic advice.

It is important that the nuchal test is done after 11wks, so you might have quite a different reading. Also, ours was done with a consultant in fetal medicine rather than a sonographer and generally did a much more thorough scan than the normal dating scan which can pick up other abnormalities or not.

We came in just under the high risk for ds but have decided not to have an amnio as we didn't think the risk was high enough. It was rather assumed that we would have one and when we were phoned with the results we were offered an appointment. Whatever your risk/outcome, as others have said, take your time to make the decision that is right for you.

It really annoys me when the medical profession say a child with Edward's syndrome probably won't survive. Children can and do survive with ES.

Probably true FBGB, but my point was more that we were given what is, by any account a fairly devastating prognosis for our LO, without much in the way of 'maybe' or 'there's a chance everything could be fine' and they turned out to be very wrong.

Even the exomphalos they saw didn't appear to be there when scanned at the FMU - and that's a pretty HUGE error.

After that I'd take any prognosis given by a sonographer with a shovelful of salt.

Didn't mean to offend anyone whose child had Edwards - but it's not a great thing to be told, is it...

db
xx

THANKYOU so much all of you for taking the time out to respond to me with such encouraging and informative comments. While i am still incredibly nervous and scared it's very comforting to hear that i do have some hope.
My next scan in on wednesday and thankfully it is with a consultant who specialises in fetal abnormalities so i should be able to get some proper answers and risk statistics etc.
Im going to go armed with a list of questions so i am much better prepared - if you could all keep your fingers (and toes) crossed for me that would be great. I will let you know how it all goes - thank you so much again. It's heart warming to have such thoughtful messages from people who don't even know me and have no obligation to care! xx

No problems Katiecubs it's what we're here for! . What goes areound comes around - I was helped loads by lovely people on Mumsnet when I was going through a similar thing, so...

Really hope all turns out OK for you. Keep us posted, eh?

Will be thinking of you,

db
xx

What ratio did they give you?? I had a couple of blood tests and that, combined with the nuchal fold measurement, gave me a ratio.

I had it in my head that if the ratio was less than 1:100 (luckily it wasn't) I would then have amniocentesis.

The only way of telling for sure is to have amniocentesis or CVS. All the nuchal fold measurement gives you is a risk ratio, and the baby could be fine.

Amniocentesis will give you a definite answer.

Hi Bubbles she didn't give me a ratio as the baby was too small to do the actual NT test - i've got to go back tomorrow to have it done. Having done alot of research myself if the measurement alone is still around 5mm then i have about a 50% chance of having a healthy baby. Very bad odd so i'm hoping for some reason she got it wrong! Please cross your fingers for me i'm incredibly nervous x

Designer baby thanks so much! i have my scan at 9.30am tomorrow and will let you know how it goes x

Fingers crossed. Remember 1:100 is the risk of probs with amnio so if your risk is lower with the nuchal fold measurement, then amnio may as well be considered to be done afterwards. At least that gives you a proper answer.

But if your baby was too small last time to do it properly then you may get a completely different measurement this time.

Just wanted to say good luck for tomorrow katiecubs, i will be thinking of you. My ratio was 1:4 chance of having abnormalities with ds2 and 1:15 with ds1 and both are fine with no chromosonal abnormalities ( plenty of other abnormalities but I cant blame those on the chromosones!!) we had an amnio with ds2, but the CVS is also a good option as you are less than 13weeks.
Fingers crossed for you

Good luck.

Best of luck Katie...

db
xx