nuchal fold result makes me concerned

[daisybob1]

Yesterday (at 13 weeks 5 days) i went to the fetal medicine centre and had a nuchal fold scan and the blood test. the scan was ok for my age (37) i was 1 in 768 but the blood test results showed me as 1 in 67. they then combine the two results and i came out as 1 in 378 overall.
i am now very concerned i was offered a CVS but i don't know what to do because i have had two previous miscarriages (don't have any kids) and am really worried about the risks of a CVS although it would be done by the famous Dr Nic of KIngs.
Also i need to make this decision quicky because apparently you can only do CVS up to 16 weeks. i was so shocked yesterday that any decent questions went out of my head and usually i have a gut feeling with things but with this i just don't know what to do. Can anyone help - i have read the other thread re nuchal folds. sorry to ramble i suppose my dilemma is should i go ahead and have a CVS because of what i feel is a risky result or should i wait until 20 weeks to see if they can tell me anymore at that point so not putting my baby at risk? i think we would terminate if the baby had DS because i am not that selfless (a bad thing to admit) but am so frightened because on the other hand i don't want the decision to have a CVS to be the cause of another miscarriage - i couldn't ever forgive myself if that happened.

Which hospital were you at? Kings? At Kings at your age, I only had the nuchal as it is considered so much more accurate than blood tests - they didn't offer me a blood test. My result was very similar to yours at the same age and my scanner strongly urged me not to have any invasive tests as the risk of miscarriage was so much higher than the possibility of Downs or anything else. You must do what you think is right for you, but with that nuchal result and no heart abnormality etc I think it sounds really good.

Isn't the risk of CVS causing m/c, even with the great Dr. Nic, still 1%? So you are 3x more likely to cause a healthy baby to miscarry if you do the CVS, than you are to actually have an unhealthy baby. I think on that basis, I would decide not to do the CVS. Doesn't Dr. Nic reckon he can get the risk of miscarriage from amnio down to 1:300? What is his CVS miscarriage stat? 1:300 is close enough to reconsider. But... only you can decide how much you don't want a baby with a chromosone defect. Or how bad it would be to terminate at 18 weeks versus 14 or 15. Would having a baby with serious chromosone defect be... 6x worse than losing a healthy baby now? Or only 2x worse? That's why nobody else can make the right decision for you.

Daisybob1 - What was the thickness of the nuchal fold? I would assume that with your 1 in 768 result that it was easily in the 'normal' range. I've recently read a lot about it (as I had a worrying result) and discovered that below 3mm is normal. I also read that blood tests are often inaccurate with many false positive results and that the NF measurement is a much more reliable indicator of risk.

Even with your blood test result I would say that your overall result is still very good, much better than the average risk for your age which is about 1 in 130.

Unfortunately, at our age, it is very difficult to get a result which is reassuring enough, IYSWIM, - and that 'enough' is different for everyone. I understand your dilemma totally.

I had an amnio in the end at 16 weeks (after much soul searching)and got my all clear back in 2 days. This route may be quicker for you if you you are still undecided about CVS nearer 16 weeks. Amnio risk is 1 in 300 at many hospitals.

Good luck. You have to decide if your result is reassuring enough for YOU. I think it is very good.

Daisybob1 I had a result a bit like yours a few months ago, the Nuchal fold result was good but bad blood test result gave me an overall risk of 1 in 61 (I'm 35). I went for a CVS but they recommended waiting til 15 weeks for an Amnio instead it's far lower miscarriage risk and you'll only have a week to wait. Also the Amnio gives a clear result after 2 days and my hospital says to get a really reliable CVS result you have to wait 12 days or so anyway as they no longer recommend the 2 day CVS result, it's had too many false positive results. So actually going for an amnio instead means you won't have a longer wait, but will have a lower miscarriage risk. It seems every consultant has a different preference here which doesn't help though.

Like the others your result actually sounds pretty good for your age If I were you I'd consider it a low risk. but I would recommend the amnio over the CVS in your (or my) position.

Thanks for all your replies and it is great that you understand my dilemma - the test was done at the fetal medicine centre which is run by the great Dr Nic and it cost £130 which we paid as i wanted to get peace of mind! my nuchal fold measurement was 1.8mm - what worries me is that they claim that the blood test is an accurate indication as they are at the "cutting edge" of all of this. they said that the CVS done by Dr Nic would be more likely (though no guarantees) to eb 1 in 300 odds which confuses the issue so would my amnio odds be even better? Fennel was your 1in 61 combined result or just the result of the blood test and did you have an amnio in the end?

Hi again. Sorry my last post probably wasn't very clear. Yes the 1:61 risk was the combined result, my nuchal fold result was low, only 0.9mm so the blood test must have been very high. Yes I did go for an amnio at 15 weeks (with good results). I had wanted a CVS at 13 weeks but they persuaded me to wait for the reasons I mentioned - the lower miscarriage rate, and the more reliable result at 2 days after testing.

I think my position was easier than yours as having a worse result (plus no previous miscarriages) made it a clearer option for me to go for invasive testing (the amnio or the cvs).
I think the amnio miscarriage risk is always lower than the cvs risk performed by the same consultant, not totally sure about that.

Waiting til 20 weeks won't help really, they can only tell you more by an invasive test. The amnio did give me peace of mind but I probably wouldn't have had it if I'd had your result which still seems OK to me. At the time waiting a week or so for the amnio rather than the CVS seemed like forever and I did find it very stressful to wait but am glad I waited, in the end it was only a difference of days and it is a safer procedure.

Maybe waiting a few days might make it easier to make a decision anyway? You don't have to make the decision about an amnio quickly (unlike the CVS decision).

Our local hospital gives equal, 1:100 risk, of m/c for CVS or amnio. Given CVS is destructive to the placenta (takes a tissue sample) and amnio only takes some amnio fluid samples, I don't understand it, either! Also was told CVS requires "stonking great big needle" versus the very thin ones amnio uses. Don't know if this is how you want to decide... but I have spoken to 2 people who described CVS as possibly very painful (including one who had CVS twice, one painful, one not). Whereas nobody seems to consider amnio that bad. Might be as good a reason as any to wait for amnio.

Beware, both CVS and amnio may "fail", but for different reasons. Cells sometimes fail to culture with amnio, & with CVS you can get an ambivalent result the sample indicates a condition in the placenta but possibly not in the baby so then you have to have amnio (or a 2nd amnio), to be sure. The big advantage with CVS seems to be the chance of an early decision.

Just a personal opinion... but I think King's College may blow their own trumpet about their tests, a bit much. There is a long debate in the BMJ about how nuchal fold is not as good as they claim at detecting chromosone defects, etc. I don't know the truth of it, but definitely some vociferous doubters out there. I don't know if NICE has said anything about the blood tests, but the fact that the bloods aren't widely offered at 12 weeks could suggest they haven't passed enough muster in the peer-reviewed journals.

from discussing it with you i am reaching the conclusion that it is much better to wait until 16 weeks for an amnio and that i am going to try to get an appointment with Dr Nic to see what he would recommend - however this is a long shot but i think i need to get some expert advice from somewhere about whether to have an amnio versus miscarriage and my history - any ideas?

i wonder whether if i did nothing i would just worry constantly, mind you i have been worrying constantly since i got pregnant - i really do need to calm down but it's easier said than done.

Zebra I'm completely with you on this one. I don't think there's much if any evidence to back up these 12 week blood tests. Many hospitals are very sceptical. One other possibility to consider, daisybob1, would be to see if you could get an amnio earlier if you really want a test. CVS sampling is no longer offered here because of the miscarriage rate, but amnios are done at 14.5 weeks. This is thought (by some) to be the best balance between earlier testing and safer testing.

I have to say that with your history I would just try and think that the risk is really not that high, read some of Thomcat's and Eidsvold's wonderful posts about their daughters, and try and relax. However, it's not me that's facing the decision, I do realise. Good luck.

I did actually have an amnio at 14.5 weeks (having been persuaded to do that rather than the CVS) but it failed, as the baby has to be in a perfect position and the consultant has to be very expert for it to work this early. So they had 3 painful attempts at sticking the needle in and no result as there is less space to stick the needle. And still carrying a possibility of miscarriage. I personally would not recommend the early (14.5 weeks) amnio. I went back the next week for a second amnio at 15 weeks and it was very fast, almost painless, and effective.

Like Zebra I've been following those debates in the BMJ too, it seems one reason they don't routinely offer nuchals and 12 week testing is because the CVS is not ideal and you then have a wait for an amnio at 15+ weeks.

Daisybob you have all my sympathy it's a horrible choice, it is very worrying but maybe worrying is actually preferable to risking another miscarriage if like you say you wouldn't forgive yourself? One in 378 means you are extremely likely to be OK.

You're right, it depends entirely on the consultant's skills, and on the accuracy of the dating scan, but if a particular consultant has a good record I see no reason to avoid it necessarily. I had one at 14.5 weeks with no problem at all, as did many people I know, but I certianly would avoid it if I was unsure about the person performing it.

based on a lot of reading I have done - including stuff written by dr Nic - your risk of miscarrying a 'healthy' baby is higher than not -in that while the rate of miscarriage from invasive testing is low - 3/4 of those miscarried did not have any chromosonal disorders or disorders of any kind.

As you said it is your decision - I had a fetal cardiac scan at kings where they correctly diagnosed dd's heart defect - and was also offered an amnio - I refused - simply because dd was going to be born no matter what... our child had a very high risk of having DS - in fact had she been born without down's syndrome - she would have been very rare indeed.

I was given a very detailed anomaly scan which measured all sorts of points on dd's body - and none of them showed any physical markers for down's syndrome - however dd does have down's syndrome.

By the way - I am not selfless - anything but - particularly when it comes to wanting the best for my daughter... however - dh and I have known people in our lives who have been amazing - oh and they happened to have Down's syndrome - there really is such a range in terms of how children who have down's syndrome are affected. We did not even for a moment consider terminating our child.... even though at first we were told she probably had a more serious heart defect than what she has.

At this stage - two open heart surgeries and complications from that - my daughter is growing and developing just like any other child... she attends mainstream nursery ( I work full time) and has taught me - that she is much stronger and more determined than I could ever hope to be.

but at the end of the day - it is your decision and it is a difficult one.

hello - eidsvold - thanks for your reply. what prompted you to have a fetal cardiac scan if they found nothing odd in your other scans - was it your nuchal fold result? i am sure you are anything but selfless about wanting the best for your daughter i just don't know what to do and due to my ignorance would not know how to cope if our baby had downs. i think next week i will try to talk it throug with my miscarriage consultant and see what she suggests and go with that advice.

This blood test stuff is really confusing isn't it?

When I had my NF done at 12 weeks the screening advisor told me explicitly NOT to have the blood test done at 16 weeks as it was bound to give me different odds which would only confuse.

She also told me that the NF was much more accurate than the blood test anyway as many factors can influence the blood test result (hormone levels and biochemistry chnages from day to day apparently)

However, a friend who had the NF done about a year before me was told (by the same advisor) that they were both blood test and NF were equally accurate. I just assumed that the NF had become more proven in the year between my NF and friend's NF, although this seems to contradict what Zebra and Fennel have read in the BMJ.

Are the 12 week blood tests and the 16 week blood tests the same, btw?

By the way, the screening advisor told me that many midwives go straight for the amnio without any previous tests as they want a definite 'yes' or 'no' and neither blood tests nor NF can give this.

I think it would be a good idea to see Dr Nic for more advice, considering your history. Whilst you're there, find out what he thinks about Nuchal Vs Blood test and post here so that we all know!

Try not to worry, daisybob. I know it's hard as I've been there. All this screening really takes the shine off pregnancy doesn't it? So much for reassurance! My result 1 in 200 with a 2.6mm measurement on the NF - much more borderline than yours. I'd like to think that I would have been reassured by your results (if they were mine) but I understand that that the blood test result has probably sown that seed of doubt. Good luck! I'm sure you will make the right decision for you.

Totally agree about being confident about who is doing your tests. I asked my consultant how many amnios he did a month and what his miscarriage rate was (0%)....He also told me that some Drs scan for the position of the baby and then remove the scanning device and go in 'blind' - I said wasn't this a bit like playing 'pin the tail on the donkey?'!. He scanned for position and then the nurse maintained the scan so he could be sure ds hadn't moved. He talked me through the procedure and let me look at the emd to prove the needle was nowhere near ds. Other than the sensation when the needle pierces the womb all was fine. Went home, put my feet up and waited for the result! (In my health authority if you don't get a phone call all is okay - you just wait for the letter!)

I think King's College 12 week test only does 2 blood factors and the standard NHS-offered blood test at 15-16 weeks does 3 factors, so they must be at least a little different.

There are a handful of amnio horror stories on AIMS website but they usually don't involve continuous ultrasound I can't believe anybody still thinks it's ok to 'go in there blind'!

Zebra, believe me, it gave me pause for thought! and I'd have been straight out of there if he'd tried it on me!

I had to have a fetal cardiac scan as my usual 20 week scan showed up an anomaly in the heart - which the local hopsital diagnosed as a very serious but different heart defect to the one which dd has. They then referred me to Kings for the fetal cardaic scan. She turned out to have a very serious heart defect - just not the one the local hospital identified ... that problem has now been rectified - she ended up having two open heart surgeries and some setbacks..... but today her heart is just as good as a 'normal' one.

I never had a nuchal fold scan.

I also will be having as little testing as possible next time although I am now at greater risk of having another child with Down's syndrome - age and the fact that we already have dd.

I had none of the blood tests - given that the reliability of the double test that the hospital offered then was 42% I figured that it really wasn't worth stressing about for something that inaccurate.

just an update for anyone interested. i finally met prof nic on wednesday to discuss whether he felt i ought to proceed with an amnio - however when he looked at my results he said that the blood test was "bad" or odd not down to my risk of DS but because i have a placenta that has hemorraged. therefore to conduct an amnio would in fact increase my risk of a miscarriage. so although he said in his opinion he didn't think my baby had DS i am now faced with another issue - basically if the placenta hasn't regenerated properly then i could miscarry at anytime - nothing to be done about it so just have to sit tight and see what happens. by the way i thought prof nic was fantastic.

i think that prof nic is brill. i would love his opinion on wether i should have more kids or not. i wish he did a web site questions thingy. sorry about punctuation, baby on lap.

Hi again Daisybob1

sorry to hear about the miscarriage risk. I hope it's not too stressful for you. I guess it is good news though about the reason for the blood test in that at least you don't have to worry about what to do now - whether to have invasive tests or consider termination?

Good luck - nothing to say except I am thinking of you.

Don't risk it if you're not sure - I'm 8 weeks pregnant with my third child - my second one was born with Downs Syndrome although my AFP came back low risk - it was a total shock - I was 32 years old.

I am going for a nuchal scan in 4 weeks and if that comes back high risk I am having a CVS the same day - it's just not worth the risk - although we love our son it's hard.

Good luck...

Really makes you think everything is relative, even perceived risk. Two weeks ago at nuchal scan we were given 5% chance the baby would survive (sonographer mistook increased nuchal fold for cystic hygroma), the next day fetal medicine consultant said we were actually doing much better; had 50% chance for a healthy baby. Did cvs, which came back ok, and a couple of days ago saw prof Nic. Our chances for a healthy baby are now 5 in six, and we are thankful for that 5. To me 1 in 378 "risk" sounds absurd. I'm 36 and was told by fetal medicine consultant, that my age only, before any scans, means 1 in 276 risk. In any case, your risk of miscarrying a healthy baby(cvs) is far greater than having a disabled child.