Borderline nuchal results - any advice on next steps?

[tiokiko]

I've just had a call with my results from nuchal scan & bloods last Wed - has come back 1:240 (cut off for 'low' risk is from 1:250, not sure if that's the same everywhere).

I was 12+3 at the scan although baby measured 13+1 so they have changed my due date (I don't think this is correct but that's another issue). Nuchal measurement was 1.7mm and I am 38.

When I had DD in 2008 we didn't get a numerical result - just told high or low risk and it was low risk (so could have been 1:250 for all I know).

I don't know what to do next - can have CVS or amnio but am concerned about the risk of loss. Is there any point in considering a private scan? I know this wouldn't give me a yes or no like a CVS/amnio would, but would they be able to look at other markers (nasal bone, anything else?) that would give any more information.

DH is away until tomorrow so we'll talk properly then but am just trying to gather any relevant information at this point. If anyone can suggest anything or give me any other questions to ask I would really appreciate it.

hi, i was offered a detailed scan before going for cvs. worth asking if you can have one as it wouldn't ahve teh same implications as an invasive test. fwiw, you are almost borderline but I agree i would be considering cvs in your position but also would be unsure about it as your odds are at the 'good' end of higher risk. x

Thanks Manitz - I've just called Antenatal Results & Choices and they were so helpful. Weirdly, they told me that the 'cut off' for low/high risk is actually 1:150 or 1:200 in Scotland (where I am). So in some ways I'm more reassured although it obviously doesn't change the 1:240 itself.

I am thinking more about having another scan (not another triple test) as I think I might feel more reassured that the numbers are favourable if there are other good markers. Or if there aren't, it would make me more inclined to have the CVS.

This is all so difficult isn't it? I know people have had much worse results recently, it's just hard applying blunt numbers/stats to a very human situation.

Hi tiokiko

My local health authority classes high risk as 1:150 if that's any comfort. The detailled scan sounds good as a next step; if you are 13+1 then by the time this is done you may be coming closer to having an amnio rather than a CVS, which carries less risk if you still want an invasive test to put your mind at ease. Also, if your worried about having more tests done, it may be worth, (if you can cope with the answer), asking what the MC rate is for your particular hospital. 1 in 100 seems to be the figure we all get given, but some of the ladies here have had hospitals with rates more like 1 in 200, 1 in 500, even 1 in a 1000! So even if you do go on to testing further, the picture's not quite so scary.

Good luck, get some hugs of your DH when he gets home, let us know how it goes xxx

You might want to consider going privately for a more detailed scan - I can"t recommend the FMC highly enough:

www.fetalmedicine.com/fmc/

Cinnamondog - that is really reassuring, thanks. I just can't believe how different the cut off is, I wonder if it's because it's such a new thing in Edinburgh? Nuchal testing was only introduced here on the NHS in January so maybe they are using cautious numbers at this stage? Last one was in Northamptonshire so all a bit different.

ARC stressed the same about specific consultant's rates - I did ask the MW about that particular hospital and she said it's 1:50 which is even worse than the standard...getting different figures doesn't make it any easier!

Lucy101 - that's great to know too, thanks. I have provisionally booked with the FMC for a detailed scan next week, with the option for CVS immediately if necessary. I'd heard great things through various threads here so gave them a call this pm, really good to have your vote for them too.

I think a scan would give us a little more information and let us take more of an informed decision about whether or not to go for CVS. Such crap timing with DH being away, counting the hours until he's home tomorrow night!

Small update - I've got an appointment with a consultant at ERI on Monday, so will see what she has to say and take it from there. Think I still want to have a scan but it will be helpful to talk it through with her in a bit more detail.

Hello tiokiko xxx

Thank you for your kind words about a hundred years ago (it seems) on my thread panicing about my results.

I would highly recommend a private scan. I had one at 13+2 and the consultant went over the baby for nearly 45 mins looking at lots of markers - sound of heart, regularity of beat, movement of blood, nasal bone, finger bone, spine - and that all i can remember - there was more.

My storys awful - but yours sounds very very likely to be absolutely fine and you just need the reasurance I think a detailed scan would reduce your risk xxxx Let us know what you decide and how you do xxx

I had a risk of 1:190, cut off here is 1:200. The MW I spoke to about it was very helpful in that she put it into a percentage risk i.e. 0.5% chance of Down's. That's still a really tiny risk, more so for the numbers you have. I know I wouldn't terminate so for me personally it wasn't worth doing the amnio I was offered. The risks of miscarriage from the amnio were higher than the risks of the baby having Down's which puts it into perspective.

We were offered, and took, an appointment to talk it all through with a MW at the hospital. Although it didn't really tell us anything that we didn't know it was still reassuring. A sort of sanity check on the thoughts that we had had. She said, if it helps, that most people given the risk we had would make the same choice not to have the amnio. It's such a personal decision though and you must do what you feel you need to.

Misty - so nice of you to help, you have so much more on your plate at the moment so I hugely appreciate your advice. I know my numbers aren't the end of the world but it's just all been so confusing.

It's really helpful to know the specifics that your consultant looked at, that sounds exactly like what I'm after. I don't know what will happen with the consultant on Monday but I really do want to have a scan either NHS or privately, hopefully ASAP next week. Will definitely let you know what happens - hope you're doing OK, have been thinking about you a lot.

Mouse - thanks also, good to know you have a different cut-off too. I wonder why it varies so much through the country? Seems crazy to add extra confusion/debate to such a difficult issue. Glad your MW talk was helpful, hoping our appt with cons will reassure me too.

Bump x

Saw the cons this morning. It was helpful in many ways as she talked things through in more detail inc bloods (PAPP-A 0.9MoM, bHCG 2.02 MoM) but she felt that an additional scan wouldn't help us make a decision.

She said that the markers we discussed (nasal bone etc etc) could be there in 50% of babies with DS so wouldn't rule it in or out. I think it might just defer the thinking that we need to do now really.

She felt that none of the factors on their own are particularly 'bad' which is good to hear. I think we are still in the same position of having to weigh up the 1:240 vs 1:150 risk with amnio.

I think the 1:240 is pretty good as it stands, but I am a worrier. I need to work out how I can put the worried thoughts to one side and continue with the pregnancy/labour feeling positive; or if not then go for the amnio and hope all goes well.

Anyway - thanks everyone for all your thoughts and advice, it has really helped over the past few days.

Hello tio xx

Glad you found the talk with the consultant helpfull, and i hope that you can relax and enjoy your pregnancy.

Wether or not to have amnio is a very personal decision for you and your OH, and no one else can be the one to say whats right for you. My best advice is that make sure you feel you have all the info you can get/feel that you need. Ask your doc., MW, consultant any other questions now if you need to. Theres nothing worse than little nagging 'what if we had ......' if youre a worrier!

Once you've decided, try to relax then - your odds as they are sound fabulous to me

Keep in touch xxx

I found that once we made the decision that it wasn't worth further invasive tests it has really slipped to the back of my mind. TBH the risk is still so tiny it's not really worth the headspace. It will of course be lurking in the back of my mind until we know that all is well (or not) but a couple of weeks after getting the result an processing it, it didn't really weigh too heavily on my mind any more.

Good luck with making a decision that you are happy with.

Just to say that I started a thread a while ago about my triple test results in Edinburgh. I put the breakdown into the online trisomy calculator and they came out as 1:2700 as opposed to 1:700. I then called the wolfson centre who calculated it the same as the online calculator. They thought that th MoM of the nuchal had been miscalculated (according to nicolaides charts it had).

Basically either the software they use is radically different to London or they miscalculated something. My results were processed at the western general labs. Why don't you try the online calculator? Just something worth bearing in mind.

Partridge - thanks, that is so interesting. I've had a look at your previous thread and it's got me thinking! Did you work out the NT MoM yourself or was that via the Wolfson centre?

I don't have the specific CRL as I still haven't been sent the actual results, which is a bit annoying. The NT measurement was 1.7mm, which they translated as 1.38mm - by my dates I was 12+3 but after the scan the CRL changed the gestation to 13+1.

I have had a look at the online calculator and the risk comes out substantially lower with the NT measurement/average CRL for 12+3 and 13+1 vs the NT MoM. If I just use the NT MoM it comes to basically the same as the odds I was given.

How weird! Did you follow up with your MW/doctor to query the results?

I did and they were spectacularly arrogant and unhelpful. The western refused to recalculate the results as they said that they were quality assured blah blah blah. The wolfson centre said that the nt MoM is not a fluid thing and so they must have miscalculated.

If nothing else it totally calmed me down as it proved that there are such enormous variables in testing. A friend has just had a 1:74000 result despite the baby having an nt of 2.5mm at 12 + 4 weeks. Mine was 1.9mm at 13 + 4. Whilst my bloods weren't perfect I still can't believe the difference in risk factor despite me having a much better nt. It devalues these screening tests in my eyes.

Try and find out the crl and then do call wolfson. They were hugely helpful.

Ps I calculated the nt MoM against nicolaides Charts and by putting the crl and nt measurement in the online trisomy calculator. Both came out as 1 not the 1.38 i was given by the western. Similarly wolfson independently worked it out as 1. Did they give you a MoM of 1.38 too? In which case I smell a rat!

I worked out that the nt would have been 2.6mm at my crl to come out with an MoM of 1.38. Yours shouldn't come out as anywhere near 1.38 at your gestation with that measurement - it would be less than mine.

Yes, my MoM was 1.38 too - this is so odd! Do you have a link for the Nicolaides charts and/or Wolfson pls? I've searched for both online (can find lots on Prof Nic/FMC but not that specifically) so if you can point me in the right direction that would be great.

It does make sense as I thought the MoM was a bit higher than I would have expected. I know even if it changes my risk to 1:800 that I could still be the '1' and have to think about that, but there is a huge variation and it feels like a lot of extra heartache.

Try this for nt MoM sts.bwk.tue.nl/marijatrcka/DS_papers/Calculating%20correct%20Down?s%20syndrome%20risks.pdf

I don't have the wolfson number here but got it from antenatal results and choices. They will definitely give it to you. The lab in Edinburgh was outraged to hear that someone in London was commenting on their results, so maybe don't let your midwife know yet as I'd hate them to give the people at wolfson a bollocking! Let me know how you get on. It is most peculiar! Obviously our bloods were a bit different and I am 32, so age has skewed the results too, but even so odd to get exactly the same nt MoM - especially as both are questionable. I am pretty happy with even a 1:700 (even though I think this risk is miscalculated) especially after a good 20 week scan. I really haven't given it much thought for weeks.

There is always the chance that they use different MoM charts based on a Scottish population, but I know I'd rather trust the dude that invented them than a system that has only been in existence since jan (thus can't have gathered much comparative data...)

I think the MW is already annoyed with me for a) asking for the blood results and b) asking about scans etc - am not v impressed TBH. I know I wouldn't get anywhere querying the calculations so don't think there is any point pursuing it with her.

I agree that they either use their own charts for whatever reason, or there is a mistake. Either way I'd say the Nicolaides charts are obviously tried and tested and what would have been used if I'd chosen to have this early antenatal care in England rather than Scotland.

It makes me a lot more relaxed about the results and has helped me to decide not to go for the amnio. I know I could still be the 1 but it puts the risk of amnio in starker focus.
I think I might go for another scan (not a detailed one or to look for markers) but just to see the baby properly after such a short (literally 2 min) scan a couple of weeks ago. Will look into private scans in Edinburgh this morning.

Thanks so much for posting - very very helpful!

No worries. I am really pleased it has brought you some peace and to be honest I feel a bit better knowing I'm not the only one in this position. I had my 20 week scan at the ERI and was hugely impressed. They were very thorough and reassuring and the equipment was 10 times better than at St marys in paddington where I had my other two. Hopefully that will give you some more reassurance.

I also had an early viability scan at healthcare now in Stafford street which was quite good. Did the Nicolaides charts make sense to you? Are you due to get your crl measurements? Keep us posted anyway.

Yes, the charts were great thanks - good to have another sanity check.

I got the CRL and confirmed the NT measurement today - CRL is 68mm and NT was 1.8mm - I couldn't remember if it was 1.7 or 1.8 so good to check.

The online calculator takes me to 1:777 which is a big difference - no guarantees obviously but it makes me happier about the decision not to go for amnio and I think will really help me relax about things now - or go back to a more normal level of worrying anyway.

Healthcare Now closed down at the start of the month - am thinking of Babybond instead, no direct experience but a friend used them down south and was happy.

Great to hear that your 20w scan was good - will be nice to get over that next hurdle!

Those are great odds and wolfson gave me the exact same risk as the online calculator so I certainly think it is ok in terms of reliability. Obviously my disclaimer is that I am not a lab tech or medically trained - but I hope that I have helped a bit having been exactly where you are.