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Nuchal test

(35 Posts)
gl2007 Fri 22-Jun-07 11:04:01

Hi,

My wife and I are expecting our first child and we're ecstatic about it. I'm 37 and she is 35.

She recently had a nuchal fold test and a blood test and the results have come back with a 1:105 chance of the baby having down's syndrome.

We spoke to the foetal medical unit and they said that the risk factor for her age was 1:267, the blood test was 1:1689 and the nuchal translucency was 1:16 giving the overall 1:105.

The said the reason for the 1:16 was the nuchal measurement was 3.1mm and shouldve been about 2.2mm for the age of the baby, 12weeks at the time.

Theyve said we can have an amnio which carries a risk of miscarriage........we are really not sure what to do.

is 1:105 seems pretty high to me. They tried to scan for "soft markers" today but the baby is too small so we have to go back in 2 weeks. They said the risk will be halved to 1:210 if they find none.

Does 1:105/1:210 seem high to you?

mother2b Fri 22-Jun-07 11:27:03

i dont really know much about this, but i found this and thought it might help you

Mumpbump Fri 22-Jun-07 11:30:23

It does seem rather high compared to 1 in 2,500 that I have had with both pregnancies. I'd wait and see whether they can find any soft markers, but I think the real question you need to decide is whether or not you'd terminate if the baby had ds. If not, then there is no point running the risk of a m/c. There are a few threads on here by people in a similar situation and parents of ds children have posted about their experiences. Will see if I can find one for you...

Mumpbump Fri 22-Jun-07 11:31:57

Here you go. Don't know if it's what you want to read right now, but might be relevant later...

http://www.mumsnet.com/Talk?topicid=1373&threadid=324120

LIZS Fri 22-Jun-07 11:33:37

If 1:267 is the pure age related statistic then 1:210 would seem ok to me . Remember 209:210 should be fine, though little comfort if your baby is the 1. Whether you proceed with more invasive tests is a personal choice, and you need to think about how the results might influence the outcome. Can you and dw discuss it with a midwife or trained counsellor ?

evenhope Fri 22-Jun-07 11:36:03

The risk of miscarriage after amnio is 1:100 which is higher than your risk of down syndrome. My result from the combined blood/ nuchal was 1:24 at the age of 43- much higher than the risk for my age. I was offered a detailed scan before the amnio which was reassuring. My DH insisted on the amnio because he was adamant he couldn't cope with a child with DS. But as mumpbump says you need to discuss what you would do if the tests showed a problem. Amnio indicates more than just DS.

designerbaby Fri 22-Jun-07 11:48:14

Hi there,
We went through a similar thing with our little one (although actually a bit scarier - but won't go into that now as it won't help, by just giving you sacry stuff to google ).

After our nuchal measurement and various other factors we went to a 1:60 of downs and high ratios for other chromosonal abnormalities.

When looking at ratios it all looks really scarey, and you can become almost convinced that there's a problem - but we found it helpful to translate them into percentages, which somehow gives you a more 'realistic' picture.

For example out 1:60 sounded really high, until you realise it means we still had a 98.4% chance of a perfectly healthy baby. In your case it's more than a 99% chance that all is well. I suspect you'd take those odds at a racecourse!

As we had been scared witless by a previous consultant, we opted to have a CVS (similar to an amnio, but they're able to do it earlier in the pregnancy).

We were warned about the risk of miscarriage (1:200) or something, but the consultant said that babies who were miscarried following such a procedure they suspect were more likely to have a problem which would cause miscarriage anyway, so that 'real' risk is considerably lower.

No-one can decide for you whether to have this test. We had to ask ourselves whether we would be able to take the odds and go on to enjoy the rest of the pregnancy without constant worry. You also need to think through what you would do if the result came back positive. If you think you wouldn't terminate abyway, then that may inform your decision too.

We decided that because of what we'd been through to that point, and because one of the possible problems our little one was facing had an 'incompatible with life' prognosis that the CVS was something we needed to do, both for our own sanity, and in order to make sure we weren't going to bring a baby into the world to suffer with insurmountable problems.

There's a lot of fear surrounding these procedures, but I have to say it was actually completely fine. It's a bloody big needle, right enough, and I wouldn't reccommend your wife looking at it as it goes in (the look on my husband's face was enough to assure me I didn't want to see!). Apart from a little sharp jolting pain when the anaesthetic needle hit my perinieum, it was completely painless and over in minutes. So I would say, don't make a decision based on fear of the procedure itself.

It's a tough decision, and I know all too well the fear, heartache and anxiety you're going through. But take heart from the fact that the odds are very much in your favour, your nuchal fold wasn't anywhere near as high as some people's I know, and the fact that your blood results came back good is an even better sign.

try to stay positive and faith in your little one - they're tougher than they look...

Will be thinking of you both, so let me know how you get on?

DB
xx

Mumpbump Fri 22-Jun-07 12:59:42

Just thought of something I read on a thread the other day - if you are looking at going ahead with the amnio, ask about their particular m/c stats. The 1% risk is a nationwide statistic so there are places where it is significantly lower...

gl2007 Fri 22-Jun-07 13:37:37

Thanks alot for the replies and information.

1:105 is indeed >99% that everything will be fine, but its the 1:16 based on the size of the nuchal fold that is the worrying thing. I take that to mean that based on past pregnancy statistics that 1 in 16 babies with a nuchal fold of that size were affected with DS.

We're trying not to worry too much at the moment as it's obviously not a diagnosis just a risk factor at the moment.

We'll see what the result of the scan in a couple of weeks is before we decide wether or not to have an amnio. If there are no "soft markers" and our risk drops then we will probably be able to relax a bit more.

foxybrown Fri 22-Jun-07 13:44:50

I had a similar experience at my 11 week scan, 3.8mm nuchal fold 1:5 chance of DS 1:17 of other chromosonal disorder, possible chance of organ problem.

I had a CVS the next day, and my understanding is that the risk of miscarriage is increased because there is a greater risk of miscarriage in earlier pregnancy anyway. It wasn't particularly invasive, a long needle and a pop whilst being scanned. Had a few pains ebbing down my legs for a day or two later. It wasn't a particularly pleasant experience, but it meant the whole deal was over with in a week rather than waiting for an amnio. And the odds are really stacked in your favour.

It was a hideous experience and I have every sympathy for you both. It all came back fine by the way and she is due next friday.

Good luck with yours.

gl2007 Fri 22-Jun-07 14:01:28

They said today that if we had an amnio that we could have the results by Monday. We're very keen on avoiding any possible chance of miscarriage as we suffered one earlier in the year.

We've been trying to conceive for a couple of years and we were on the verge of starting IVF treatment when she fell pregnant the first time........ She had a miscarriage after 7 weeks Then 2 months later she was pregnant again and now we're at 14 weeks we dont want any extra risk in case we suffer another and then have more problems trying to conceive again.......

foxybrown Fri 22-Jun-07 14:09:43

I am so sorry to hear that. The whole thing must be so traumatic for you both.

The odds really are in your favour, I hope it all goes well for you.

There are also lots of overwhelmingly positive threads on here from parents of children with DS, if it helps.

Good luck

Mumpbump Fri 22-Jun-07 14:15:55

gl2007 - sorry about your dw's m/c. Having had two m/c within 4 months was exactly why we said whatever the nuchal fold scan showed up, we wouldn't terminate so there was no point having the amnio. Completely understand how you must feel about risking m/c when you have been trying for a while and already had one.

cupcake78 Fri 22-Jun-07 14:22:29

The decision is yours and only you and your wife can make it but having been through a similar situation recently (see post from mumpbump) we were only told the basics until after the procedure so it may help you and your wife make a more informed decision.

The risk of miscarriage is 1% at the 12-16 weeks after this it reduces. Mumpbump is right certain consultants have a very low risk of miscarriage.. The hospital should be able to give you this information and you should be able to chose. We also found out after having the amnio that the greatest risk of miscarriage comes from the risk of infection and can last for up to two weeks after the procedure.

The results will examine the full genetic makeup of your baby. This may show up other genetic abnormalities that you weren't expecting some of these may be insignificant some may not.

I was put on bed rest for three days after and then a further 10 days was signed off work and told not to do ANYTHING!! You can get cramping and slight leaking of fluid for a few days afterwards. This is normal.

Good luck with whatever you decide.

gl2007 Fri 22-Jun-07 14:26:08

Foxybrown, I'm sorry! It must've seemed rude of me not to acknowledge your delivery next Friday! I'm all over the place at the moment!

Good Luck next Friday, hope all goes well for you

designerbaby Fri 22-Jun-07 14:28:07

Hi Gl,
Given your history, then I can completely understand your reticence about the CVS/amnio...

You can't take the 1:16 ratio in isolation - or any of them for that matter. The nucal puts the likelihood up, but your bloods put it down - both are equally valid indicators. Age too.

*The 1:16 is irrelevant on it's own, the ONLY stat you need think about is the 1:210.*

It's important to guage how your wife is doing in all this. You can try and make all the rational/sensible decisions in the world, but if she, like I was, is worrying herself silly, not eating properly or sleeping, and really not doing so well with this whole thing, then it may be only a definite answer will help.

I know I was a mess by this point, and no reassurances in the world were going to help. I'd got to the point where I needed to know... Think about whether your wife is at that point.

When we finally knew our little one was OK, it was the best feeling in the world, and we've been able to get on with enjoying the pregnancy since.

In many ways the exprience has been a blessing in (very deep) disguise. Having stared down the barrel of a gun at some devastating prognoses, some relatively minor things which have completely thrown friends of mine (club foot amongst) we now feel we could deal with no problem .

Hope it all turns out for the best for you three.

DB
xx

cupcake78 Fri 22-Jun-07 14:32:31

I understand your concerns with regards to M/C We had two before this pregancy 1st at 10 weeks, second at 16+ weeks.

This is a much wanted baby and we felt the decision was an impossible one to make.

We have since found out that we had a 80:20 chance of baby being found to have Downs. Results came back normal.

designerbaby Fri 22-Jun-07 14:36:53

BTW as an aside, have you asked about the possibility of CVS as opposed to amnio? There's no need for bedrest or anything afterwards (although I took the opportunity to put my feet up and watch crap telly for the rest of the day).

Would you mind indicating which hospital you're with? I was referred to the Homerton FMU in East London, and have to say they were spectacularly good. Very sensitive, reassuring and understanding... I felt very confident in their abilities, and advice, which probably made a huge difference to how I felt about the procedure generally...

Oh and congrats foxy! I think there's a bit of a natural bond with mums who've been through this kind of nightmare, I'm so gald to hear all is well with your little girl.

DB
xx

foxybrown Fri 22-Jun-07 15:05:42

Thanks DB, and no worries, GL, didn't think anything of it, but thanks to both of you for your good wishes

theheadgirl Fri 22-Jun-07 16:02:53

Good Luck GL - I'm Mum to a beautiful DD3 who has Downs. My triple test result was 1:90, and I was offered a fast track amnio, which I declined cos of m/c risk, and cos I was 19/20 weeks pg and knew I wouldn't terminate. I think its a very difficult time, when you are faced with ultimately meaningless statistics. I would advise you to decide together what would having a child with DS mean to you? There are many of us on MN who would tell you of our experience of it, if you want to speak to people who've been there.
FWIW DD3 is a joy, I've never regretted her arrival, and in my experience I don't believe you ever regret carrying on with a pregancy, but there are people who would regret a termination. Its a difficult one, with no "one size fits all" answer. But writing here as a parent of a child with DS, I personally don't believe its something to terminate for. My daughter is a joy, check out the photos on the profile! And good luck whatever happens xxx

40nanny Sat 23-Jun-07 12:03:38

hi GL,
I am sorry you got this news, i also have just been high risk as 1:98, I am 39, so had an amnio on wednesday, as we knew we would not be able to relax through rest of pregnancy, they did a really thorough scan first, measurements of legs, fluid at back of babys neck looking for club foot etc, and this then put my risk double 1:196,as it all looked normal,you can then decide to not bother going for amnio, but we did anyway , it wasnt sore at all, i just had a stitch in my side the next day, and got the results back quickly on friday to say baby hasnt been affected, it has been a big weight of my mind, i know what an anxious time this is for you both, and hope this will help whatever you decide, good luck willl be think of you

bling1 Sat 23-Jun-07 23:58:55

Hi GL - sorry to hear what you and your wife are going through, we had exactly the same last year. Our test came back 1:95 and I chose to have the amnio as we had to know. As a complete needle phobe I can assure your wife it isn't that bad - just don't look and as the hubby be prepared for squeezed hands!

The risk of miscarriage is 1:100 and I stayed at home with my feet up for 2 days and did feel a bit achy, but nothing worse. However before you have the test you both have to be prepared for the results - if you're happy to go ahead with the pregnancy whatever the result then is it worth it? Although I don't wish to cause any offence to anyone with a DS baby we knew we would terminate if the results were positive, although I'm sure DS children provide incredible love and rewards it was something we felt we couldn't do.

Please be assured the vast majority of high risk results end up in healthy pregnancies. Ours did end up being a DS pregnancy (the midwife was very surprised) and we followed through with our decision - it was hell but the reason I'm writing this is that we did get through it and after one pregnancy us females are a lot more fertile and there is nothing stopping you from trying again. We're currently 20 weeks pregnant after conceiving 2 months after, and this time have had healthy nuchal fold scans and blood tests.

You sound a very supportive husband and if you stick together you will come out the other side, and I wish you all the best. Just get all the information and support you can from your hospital.

TheDuchessOfNorks Sun 24-Jun-07 01:06:00

I don't want to say, "it'll be fine" but...

I had DD1 at age 32 and nuchal was 1 in 2500ish

I had DS1 at age 34 and nuchal was 1 in 2400ish

I had DD2 at age 35 and nuchal was 1 in 80.

I was very shocked at the difference. I had assumed my pregnancy would follow the pattern. We chose not to have an amnio as the risk of losing a perfectly healthy child was higher (1:100). We were OK with having a Downs child anyway.

The sonographer at my 20wk scan was confident to rule out spina bifida & there were no obvious physical Downs signs. DD2 was born at home and is perfectly healthy.

A friend had a 1:2 nuchal and her DD1 is also fine.

TheDuchessOfNorks Sun 24-Jun-07 01:07:16

And good luck with whatever you decide

BetsyBoop Sun 24-Jun-07 09:09:03

worth asking about the individual consultant's amnio stats, 1 in 100 is the UK average, my consultants is somewhere around 1 in 500 - so some are definitely better at it that others.

In terms of your odds, they do seem on the high side to me - but still a lot more chance everything is ok than not.

At 38 with DD my combined was 1 in 9600 (didn't get NF separately)

At 40 with current pregnancy my combined is 1 in 23,000!!

Sorry you didn't get such a good result.

only you & your wife can decide what's the right step for you next. (eg might not do amnio if you know there is no way you would terminate, would do amnio if you are "have to know" people) If you don't fancy amnio now they can look for markers at 20wk scan, it's not definitive, but you could always have amnio thrn if they find any - also at 20wks termination would be even harder if it's an option you would consider. Have you talked through what you would do in each possible scenario?

checkout this site

Fingers crossed everything is okay.

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