very high nuchal fold measurement

[mrsbigz]

hello - i rarely post here (just read others!!) but i really need some advice. we went for our dating scan on thursday and had the nt scan and the result came back at 7.4mm. as you can imagine my dh and i are so scared....we were sent straight down to the prenatal diagnostic centre where they took my bloods, and also gave me loads of leaflets about amnios, down syndrome, other testing etc. they said it doesn't look good :(
we go back in tomorrow afternoon for a follow-up scan with a consultant - which hopefully will be much more details (possibly internal as i have a tilted uterus....i'm surprised they didn't do that on thursday anyway?!) - and also they should have my blood test results back then too - so we should have a better idea of what is going on. i'm not sure i would want to do an amnio (it would be a last resort) and would prefer to have non-invasive testing if possible. we can have an echocardioscan done, plus i think there's a triple or quad test available?
they said it could either be a chromosomal abnormailty, or linked to a heart problems. and in some cases it just goes away?! we are so worried - and have been trying to occupy our minds all weekend but it's not really working very well.

i just wondered if anyone out there had been through a similar situation and if so please could you share your stories with me?

thank you very much xx

Oh mrsbigz I'm sorry to hear about this, it is very worrying when the nuchal fold is high and you don't want any invasive testing. I was in your position once but I won't go too much into my story because it's very unusual. I would post your message again on the 'antenatal tests and choices' board, there are other women who have also been in this situation and have had good and bad outcomes.

We had the blood tests which improved the 'odds' slightly and we declined any CVS or amnio, but had a detailed cardio scan at I think 16 weeks and an early anomaly scan at 17 weeks where no probs were found. I'm told they can see quite a lot at the nuchal scans they do at the Fetal Medicine Centre in London and sometimes people have been re measured and found the fold to be smaller.

You could also have a chat with antenatal results and choices who know everything there is to know about this stuff; one thing to think about is what you would do if you had CVS or amnio and the results were very bad, if the answer is continue with your pregnancy then IMO there is not much point having the tests. Having said that I didn't really want the nuchal done anyway but I gather it was visible to the naked eye that it was large so they had a duty to let me know iykwim.

I'm sorry again - its an awful worrying time isn't it.

I'm really sorry to hear about your worry.

I really don't think there's much you can do until you get your risk factor back tomorrow.

You need to think about what you would do with the results you are given tomorrow. Unfortunately, diagnosis is made ONLY through invasive means so you need to weigh up the risks and benefits of any invasive procedure, against your risk of having a baby affected with Down's. ie, if your risk factor comes back as 1:125, your risk of having an invasive procedure related pregnancy loss is greater than having an affected pregnancy.

It's all about the individual's perception of risk.

FMC in Harley St, as mentioned by owlingate, takes into account whether a nasal bone is present, and whether there is tricuspid regurgitation in the heart which will give you a differerent risk factor than your local Trust. BUT, remember, if you have two risk factors, this can cause many women a lot of confusion and angst over which one is correct.

The FMC charge around £150 for their screening test...

Let us know how you get on tomorrow.

thank you both for your responses. i have heard about the FMC in the last few days and would certainly consider booking an appointment with them following the results tomorrow. we were also given info about ARC and will give them a ring to find out more details about what we may be facing. i think it's the uncertainty at the moment - and also have 2 boys already my priorities have to be slightly different than they would be had this been my first pg. I will definitely post tomorrow and let you know how we get on - thanks again for taking the time to respond to my post. kate x

I understand your feelings about your sons.I had a much greater risk ratio with DD2 than with DD1 (had both in my forties,but with DD1 it was 1-50,000 and with dd2 it was 1-160 or thereabouts.This was with the triple test.I would have continued with the pregnancy so I had no further testing,but it was a harder call with the impact on my older child to factor in,than it would have been for no.1. Especially as given my age I knew I probably wouldn't have a third.In the end I just knew I wouldn't consider terminating and given that my consultant said there was no point in amnio,because of the miscarriage risk.My dd was fine.

hi ladies, i'm sorry it's taken me so long to update you....had quite a lot to take in today and think about.

we went back for the scan today. baby was still wriggling around and wouldn't get into the 'ideal' position for the nuchal fold to be measured. on the scan it was like you were looking at it on top of it's head downwards (iykwim!). anyhow despite this the consultant could still see a dark mass (the fluid) around the back of its neck - and it hadn't gone down at all :( she was quite direct and said that it would be very unlikely that this baby would be born without some type of chromosomal abnormality as the measurement was so high.

i think i'd gone expecting the worst, so i wasn't overly surprised, but it still hit me really hard - especially now we've seen our little baby wriggling around on screen, seemingly without a care in the world. she said they looked for other markers too (clenched fists which apparently indication one trisomy type) and also checked all the limbs, organs etc. the fluid is still in the one place so hasn't spread which is a good sign, and everything else looked good (but it's still far too early to be able to tell that for sure).

oh, and they had the results of my bloods back from the lab - which gave me an overall risk factor of 1:5 for Downs syndrome - pretty darn high :(

i go back for an appointment in 2 weeks time and a possible amniocentesis. i'm still not 100% sure about that part, but i think in this situation steve and i NEED to know what we are possibly facing. if this were our first child then there would be no questions at all and we would just leave everything and let what will be happen. but because we have 2 young children already we need to consider how this will affect them too.

they are also arranging a cardioscan in Oxford - this wil do as it says - check for any heart problems. some which can be linked directly to a trisomy, and some that are completely unrelated, but high risk in their own way.

she also said there is a chance that this pg may still miscarry :cry:

so once again we are playing a waiting game. i thought i was ok earlier, but tonight i am in bits....i just want to protect my baby and make everything ok and i can't :(

and to top it all off, i found out today that i have an interview TOMORROW afternoon for my new possible job at work - that timing couldn't be more terrible. the last thing i feel like doing at the moment is researching and preparing for an hour long interview :?

so there you have it - in limbo again for another couple of weeks. i'm so sorry this post wasn't more optimistic, but i think i'm just in s sad place right now and i hope i can be more positive again soon.

thanks for reading and caring xxxxxxxx

Do you mean that the job interview is an internal interview where you are already working? Do they know you are pregnant? Whether you are prepared to tell them what has happened or would rather keep it confidential and say you are having medical problems, they ought to postpone the interview if you ask.

Its so hard not knowing, I really feel for you. I'd have a confidential conversation with someone in HR and see if they can postpone the interview. Take care of yourself.

melpomene - sorry, yes i'm currently at risk of redundancy (my old post will cease at the end of march) so i've applied for 2 new positions where i work. HR do already know i'm pg, but the guys that are interviewing me don't. problem is there's a really tight timescale as all internal interviews need to be completed by the 11th

So sorry you're going through all this worry. My heart goes out to you. If you decide to go down the diagnostic test route, could you have a CVS now (or soon) rather than wait a couple of weeks for the amnio. Presumably as you've just had your dating scan you're about 12 weeks or thereabouts so about the right time for a CVS.

The fact that there were no other soft marker is a good sign.

Would you consider trying to get an appointment with Nicolaides at the FMC? He's there every Wednesday.

I wonder if you do go down the amnio route,and the baby does have Downs,whether you could chat somehow to a family who have a Downs child along with other children? I know there are mothers on here whose youngest child has Downs as i've seen postings.tbh,I don't think Downs is the end of the world,I think you can give a child with Downs a happy and fulfilled life,the health problems that can come with it are managed much better now and may be quite minor anyway,and the impact on your family may be less than you imagine.At least that was the feeling I came to,when I had to work out whether I would go for Amnio or not.You may come to a completely different decision,but i'm sure either way there is a lot of help and support here.

Very much thinking of you - I am so sorry you are going through this.

I don't have as bad odds as you, but we're waiting it out for 1 in 34; all in the bloodwork. I suspect I may have gone for the amnio for 1 in 5, or for a lethal trisomy, but couldn't justify it for my levels. Like you we have two older children to consider as well, but I wouldn't be able to live with a termination so we are just hoping for the best and will deal with it, somehow, if it's not.

I'm currently almost 31 weeks, which means I have been living with Not Knowing for almost 20 weeks and it has been a very long, hard slog mentally. Clear ultrasounds are a relief, but don't diagnose either way and you're still left wondering.

In that time I've obviously been obsessively researching as I can't just put it to the back of my mind. I've seen lots of negative results with measurements similar to yours, so I am keeping my fingers very much crossed for you that your baby is another one.

Hugs and hugs for you.

I'm in tears reading your post. I'm sorry i've no constructive advice for you - i'm 43 and 9 weeks tmrow, so havn't had any scans yet - i'm very worried about the odds of problems for this preg. due to my age. Can't imagine how i'd cope! You're doing fabulously.

Just wanted to send my thoughts to you and to wish you the best of outcomes.

mrsbigz... for the worry it's causing you...

It's not the end of the world having a 1:5 - at the end of the day, flip that result and you've a 4:5 chance of everything being ok.

So, you haven't decided on the diagnostic route, then? I'm also wondering, like the other poster, why you havn't been offered CVS?

I hope the consultant worded what they said in a kindly way - It is true that a substantial amount of babies with Down's and other chromosomal anomalies do miscarry naturally - I can imagine this is not what you want to hear but perhaps having something that is out of your hands may be a blessing???

There should be a Down's support group near where you live and I'd also refer you to www.soft.org.uk where you may find more information to help you to reach any decision you have to make.

Just try to keep the 4:5 in mind!

x

MrsBigZ, sorry you didn't get any reassurance at your last appointment. As you were told there are heart problems unrelated to Down's syndrome which could result in your baby's high nuchal fold measurement, as well as chromosomal problems and there may be other causes. The sonographers / doctors often paint the most negative picture based on their experience. Can you ask them what your blood results were i.e. the risk based on the bloods alone? My risk was very bad based on the nuchal measurement but the bloods alone not so bad. Also ask them whether there was a visible nasal bone, the absence of this this is now considered a good indicator of Downs at this gestation.

Often you will hear a lot of positive stories and there are certainly people who have had perfectly healthy babies whose nuchal transluscency was as high as yours. But I understand this is no help to you as you don't yet know that this is going to be the case with your baby. And sadly there are those of us who had a bad outcome (And by this I don't mean Down's syndrome, I mean more life-threatening conditions or a late miscarriage). Try and think about what you would do if your baby had Down's syndrome and make sure you have all the information you need to make your decision about further testing. I think if the baby has other conditions there is almost less 'choice' over what you could do.

thank you ladies for your support!

Owlingate - yes i've been taking comfort in all the postive stories i've been reading and hearing about. i'm so sorry to hear that you had a related loss though - i can't imagine what you must have been through. I've certainly been researching DS a lot more, and will speak with dh to discuss what we would do if it were that, rather than the other trisomys. i rang the diagnostic clinic back today and asked whether they had checked for nasal bone, and they said that it wasn't an 'NHS' criteria and therefore they don't take that into consideration!?!! she said that i could go private (one of their own gynae's does it) but due to my gestation i'm just over the limit for nuchal scanning now!! grrr. i did try looking at my scan pics but to be honest i'm not sure what i'm looking for....
i now have the cardioscan booked for the 25th march, by which time i'll have had the preliminary results back from my amnio (on the 21st) so i'll be much better informed by the end of that week.

oh and slightly off topic - i think i managed to get through my interview ok today...somehow!!!!

I take my hat off to you for getting through your interview, that is amazing,given how much you must be worrying.Well done you.

In relation to Downs Syndrome.

My youngest DS (he was 7 on Saturday) has Downs Syndrome and I also have two older DS's, aged 10 and almost 15. I didn't know that DS3 has Downs until he was born, but I am really glad I didn't know as I am not sure what I would have done and I may have decided to terminate on the basis it wouldn't be fair or would be hard on my existing two boys.

We are vry lucky in that DS3 doesn't have many health issues, although he did have heart surgery at 6 months old. He is quite learning impaired though and still has very little speech. He is also still in nappies, although we're currently attempting toilet training and he has now discovered there are toilets to use when we are, so we are in that 'place' where with boys they need to use the toilet in every single place you go! He is wonderful, I wouldn't change him for the world. He has such a great sense of humour and we all love him so much. His oldest brother is even considering a career as a SN teacher.

I split from DS's Dad when DS3 was a few months old, nothing related to him having Downs, it was on the cards anyway, DS3 was unplanned. I am now remarried and DH absolutely adores DS3 (and the older boys of course!) and we have declined further testing in subsequent pregnancies as our baby having Downs just wouldn't matter to us.

thank you hellymelly - not sure how i did it BUT at the end of the day i'm the main breadwinner at the moment and i NEED a job - i guess that need just took over at the right time, and even though i thought i would blub, i managed to stay quite professional!

Hi, i'm 12wks and 3days. This is our 4th pregnancy in 18 months. Been having scans every week for 6wks. Went on Monday to be told the baby has high Nuchal translucency. We were very confused, refered to specilist to be told everything else was fine his heart was 161 bpm. Lenghth matched dates. But his NT scan was 13mm. The average is 1-2mm. So very scared now. Will do CVS next week but he basically gave us a death sentence. Need a glimmer of hope. Need to know if there is anyone out there who has been through this. i also need to know if i'm looking at another Angel baby.......Please help

Hi everyone, just wanted to add my positive story. I had a scan Feb 11 with a nuchal fold of over 5 and was told that I had 1 in 2 chance of downs and if it wasn't tha,t was likely to be something life threatening, probably awful heart probs. I went on to have CVS - all clear. Then it was a long wait until specialised heart and anomoly scans at around 20 weeks, which were also all clear. My son is now 3 months old and very happy and healthy! It was a horrible & highly stressful time for us, these forums gave me much comfort - if only to feel like I was doing something in finding out more, so I just wanted to share my positive story. x

hi my dp, dd had a really bad 1:10 and was fine. so they are not always right. he did go on to have a boy next that is downs and that was very apparent in the scans, he has had a lot of problems with his heart and bowls which is common but is just a lovely little boy whose two sisters dote on. so though i understand your concerns over your children and possible problems to there lives children tend to be resilient to these things.
good luck op and let us know how you get on.

Hi there, I hope my experience might be useful to someone.

I had a nuchal fold scan of 13.2 mm with my first pregnancy in 2006/7 when I was 32. (No blood tests were offered at our hospital at that time). It gave a 1:2 chance of the baby having Downs Syndrome and ~1:15-20 chance of one of the other Trisomies. It was a shock and a scary time, especially as I clearly remember the medical staff being rather negative in the language they used such as 'Are you going to tell her, or am I?!' 'Risk factor' instead of 'chance' and 'Sorry to tell you.'

The sonographer was not knowledgeable in the many possible reasons for high nuchal fold readings (other than the 3 above), nor the facts about the different Trisomies. She clearly stated that Trisomy 13 and 18 are 'non compatible with life' when I have found out since that this is not strictly true. There was also a strong expectation that I would terminate and I could have booked in right there and then without any further testing. Also, what about the ~4000 odd other possible birth defects that a baby can be born with that we can't test for?

I did go on to have CVS the day after the 12 week scan. I'm a biologist (and a slight control freak!) and I needed to know what we were facing. Again that expectation that I would terminate came through loud and clear with the doctor saying 'I think we will all be able to live with ourselves better if we find out for certain.' He also typed on my notes that 'there is a 70% risk of an adverse outcome' and I'm not sure to this day exactly what that meant. I guess the statistics say that the majority of women who opt for further testing will terminate if given a confirmed diagnosis of a Trisomy. Obviously that is a deeply personal decision. But what worries me most is whether the negative attitude/language of the medical staff has a part to play in that choice. I felt there was a subtle pressure to terminate a 'non-perfect' child.

I found myself in an agonising position of making a life/death decision - my heart screamed 'No' to termination but my head asked 'What level of disability could I cope with?' 'If the baby is going to die anyway then surely it is better not to go through with it?' 'What is a life worth living?' How can anyone possibly answer that?? I felt enormous relief when I made the decision that if the baby was able to survive through to birth, then that was how Mother Nature intended.....it was the right decision :)

I have a wonderful, healthy, pretty, bright, funny, well-behaved, independent, imaginative 5 year old who is a fantastic big sister to her younger sibling...oh and if that wasn't enough, she happens to have an extra copy of her 21st chromosome. :) www.3star21.co.uk

Mermaid, your post made me cry. I think I learnt something very important today.