Just been told our risk for Down's syndrome is 1 in 5.

[BrownPaperandString]

We went for our 12 week scan yesterday at UCH and we were told the following:

1. Nuchal fold 2.85mm

1. Ductus Venosus a-wave: reverse flow (BUT the sonographer seemed to be having trouble measuring this and kept asking me to hold my breath and then muttered that it's very difficult because the vessel is only 1mm).

Also I asked if the heart valves were working properly / leaky and he said they looked fine.

1. Blood: hCG higher than average (2.75) & PAPP-A lower than average (0.87)

1. Nasal bone is present.

So - with all that info and the fact that I am 39, we were told we had a 1 in 5 chance of the baby having Down's Syndrome.

Has anyone any experience of this kind of pattern of results and what was the outcome?

Poor you - how worrying. I was 38 when I was pregnant and had a result of 1:43. My scan wasn't too bad but my bloods were diabolical! When I spoke to the midwife she said presence of nasal bone was one of the most important things. Anyway, I had a CVS test which was absolutely fine (thought of it much worse than procedure) and all was fine. I was VERY worried about risk of miscarriage but lovely Doctor said risk wasn't as high as usually quoted (old statistics / some women would have miscarried anyway / just ensure you have an experienced Doctor who carries out lots of CVS tests). Finally, my midwife also said, even if results were 1/2000 - somebody always has to be the one. Best wishes.

Please give these people a call. They will be the best people to advise you.

If you know you would not terminate then imo it is not worth the risk of having any further testing done.

I got a risk of 1 in 11 at the age of 31. Nuchal fold measurement of 3.1 mm. All was fine.

I have a friend who was 40 when she had her child. She had a 1:8 chance, went for lots of councelling. Her boy is non-downs and has no other problems.

Thank you so much everyone for your replies. I am getting alot of support from you all - thank you so much xxxx

Had result of 1/49 (based on blood test alone-- very high HcG 4.04 MoM). I am 35. Refused CVW and amnio on grounds that we wouldn't have done anything anyway. Now 35 weeks, have had several growth scans which have looked fine. This is only to say I sympathise hugely and whatever choices you make about further testing or not must be done on gut instinct. You WILL make the right choices and cope with whatever comes along. I remember the huge shock and upset of receiving the odds. Even going to work seemed too much. I told Mumsnet and close friends, family, but no one else. Despite lots of people saying this kind of thing spoils a pregnancy, I haven't found that. I just can't wait for baby's arrival to finally cuddle him/her. Gosh, I don't know how any of this will help, but to say that my mantra just became 'Accept, accept' and that has worked, for me and my family. It will be hard, you will cry lots, have horrible waiting times (long or short), but you will be OK. Take care of yourself lots.

im 27 and ive been given the same result. my bloods were fine but baby had a nuchal of 5mm. im going for a cvs tomorrow at oxford and im crapping myself. at the hospitals i have been to they havent scanned the heart or blood flow and have been told i had to wait till 18-20wks for them to preform this type of scans. if you look at my photos on here my baby clearly has a nasal bone. but i had to ask the sonographer to look for this as they dont do it on the NHS!

Hi Mainer - you sound completely sorted - what a lovely lady you are. I was completely fine but am now wobbling and wondering how we would all cope. I am also wondering if it might not have Down's but something else far more debilitating. I am sure the combination of my risk factors is not a good sign.

Florrie- good luck for today. I will be thinking about you today. Please do come back and tell us how you got on.

Hi Brownpaperandstring

My story so far....

My dating scan at 12+2 showed a nuchal fold of 4.6 giving me a 1:14 risk alone refused cvs.

I then went for a private combined nuchal fold test at 12+3 she measured nuchal at 3.2 combined with my bloods gave me a combined risk of 1:1128. Nasal bone was present.

Had my quad bloods done at 16+2 came back high risk 1:5. Still refused invasive tests.

Had to go for a 16 week scan with nhs to see how things were progressing, all fine.

Had my 20 week scan 2 weeks ago still looks ok so am trying to think positive and now trying to enjoy the pregancy instead of worrying about all the what ifs.

Hope your ok and not worrying to much and congratulations on your pregancy!x

By the way have just turned 32 and this is my first baby.

Hi Brownpaper have posted on your other thread - just to say you should be able to ask for further detailed scans that might be able to reassure you about conditions that would be more debilitating. It would mean you could avoid an invasive test but get more information.

I just wanted to say that at 36 I also had a 1:5 chance of a baby with DS, 1:17 of another chromosonal abnormality.

She does not have Downs Syndrome, nor anything else.

I had CVS the day after the test.

It's a difficult time, I feel for you. x

Ah Janski that's interesting - so the NHS has put you at a much higher risk than a private scan?

That fits in with the chat I've just had with the lovely lady at the antenatal tests and choices place. She said that as I was scanned etc at UCH, I did get a private scan in effect, as Professor whoever it is (Nikolaide?) has moved some of his team in to UCH as part of a research scheme. She said i would have got the full monty of testing and wouldn't achieve anything else by repeating the scan privately.

She also said that UCH's upper limit for the nuchal test is 3 but nationally on the NHS, it is 3.5, so had I been screened anywhere else, my nuchal would have come back as being normal (2.85). As they wouldn't have looked for any other markers, (although they would have done my bloods I assume), then my age would have put me as high risk but that's it. I basically now have far more info than I had with my other two pregnancies. They have the wind up me this time and it may have been the same the last two times but i was blissfully ignorant!

ohforfoxsake (love you name!) - you must have been terrified but I'm so pleased that everything was ok.

brownpaperandstring yes they did. think I have read somewhere that the combined is about 90% accurate where as bloods alone are only 60% and the nuchal alone is not very accurate at all. I might be wrong though.

I didnt have a combined test with the nhs as they dont do them where I live so they were going off nuchal alone and then bloods alone.

Have you got another scan coming up?x

My next scan is at 20 weeks. Such a long time to wait!

If your not having any further tests why dont you see if they can scan you at 16 weeks just to break it up for you as it is a long time I know exactly how you feel!

Let us know how you get on x

hi florrie, hope all goes well, let us know how you get on. xx

I suspect they say 20 weeks because there's certain things they look for that can only be seen then (esp if they are looking at the heart in some detail).

I have found the best way to deal with uncertainty is to say 'ok I can't do anything further now so I will stop worrying about it until xxx date'. It's not easy and there can be wobbles of course but it has worked for me in the past. Otherwise you can end up tying yourself in knots analysing everything.

Hello, at 31 I had a nuchal scan with a fold thickness of 5.5mm at 12 weeks, combined with bloods I was given a greater than 1:10 chance of DS and other chromosome abnormalities. I had a CVS a couple of days later, scans every month, including a cardiac scan at 20 weeks. It was the most horrendously stressful time.
In the end I had an emergency section at 36 weeks. HOWEVER I now have a happy, healthy 2 year old (currently destroying my desk!), and count myself incredibly lucky to have beaten the odds.
You have my heartfelt sympathies. My only advice would be to get all the info you can, take all the advice, and make the best decision for you and your family whatever that may be. Best of luck.

well thanks for all the messages of support. im sore and still worried bout what the results will show. just hope the sample they took is fine to be tested as i dont think i could ever go through that again. i had an amnio when i had my son(9 in feb) but i cant remember it being that painfull or uncomfotable. was told today if tests come back fine i'll be back in oxford for the heart scan in 3-4wks. dont know if anyone else has experenced it but my belly seems quite hot compared to the rest of me at the moment. think its going to be a long painfull weekend wait for the results.

Brownpaperandstring- sounds like ARC gave you some very down-to-earth, logical and, better still, highly reassuring advice! Something we all need to hear. I also didn't realise that 2.85 on nuchal was that high; I am also putting faith in bloods test being highly inaccurate. Have also heard that nasal bone is one of most important things. So many reasons to be positive. Don't get me wrong-- I still cry lots and have very down days. I have days where I want to find out everything I can about DS and other days where I just black out the possibility. All I was trying to say above is that it is possible to cope. Saintly above is so right. A friend of mine also had useful advice I've tried to keep in mind, 'We worry most about the things that never happen.' Waiting for scans is not easy. I found the wait for the 20 week one the hardest. Have had scans ever 4 weeks since, and with each positive scan, the next wait feels shorter.

Janski31- your story is amazing; you sound very strong indeed. Thinking of you as the weeks progress.

And to Pyjamarama and ohforfoxsake and others, thanks so much for telling your very reassuring stories. It helps such a great deal.

I think the other thing to remember Mainer is even if the 'worst' thing (in terms of DS) happens - and as you have said both you and brown have very positive signs that it won't - you very quickly won't care at all. That I can promise. It can help to push those worries back a bit, even if it can't get rid of them completely.

But is it wrong to knowingly bring someone in to the world who has DS? It's a terrible question to ask but one I can't stop thinking about. For the medium to longer term and after we've gone - are we knowingly sentencing our child to difficulties that they may not be able to get the support that they need with?

It suddenly seems a different thing to discovering that your baby has DS (or indeed any syndrome / disability etc after birth - the baby has arrived - you get on and love them and do the best you can BUT if you knew your baby was potentially / more likely to have difficulties within the society in which we live and that their siblings are going to feel the weight of it too. Is that wrong?

I wish I hadn't been screened.

I suppose my take on it is that you never know what life will bring for any baby - some people with DS live full, independant lives, in normal jobs, getting qualifications etc. Some babies who aren't born with apparent problems go on to have major problems that mean they are dependant on others. You can't tell where they will fall on the spectrum of acheivements.

Even people who need support in their lives can have very happy lives - my cousin is the same age as me and has severe learning difficulties as a result of a brain injury close to or at birth. In spite of a very low IQ, she now lives in supported accomodation with 4 friends and 24 hour support, goes to clubs, goes dancing etc, and is satisfied with her life. Her parents have a good life too, as do her siblings. Her younger brother has chosen to work with people with challenging behaviours and SLD, so I don't think he views it as a negative

Agree with CMOT. My son's LD's are more severe than would be typical of someone with DS and he will require more care than would be expected for DS. I expect him to have a fufilling life. He certainly has a very active, busy and fulfilled life now. Transition planning for adult services starts at age 14 (ds1 is 11 now) so we'll be rolling up the battle sleeves soon. There is good provision available - it's not always as easy to access as it should be and you usually have to become very switched on with social services.

I think the idea of siblings unable to live their own lives burdened by a disabled sibling is very outdated - especially for DS because so many people with DS can access supported living arrangements- and there's lots of choice there (full residential of the sort my son needs is more problematic). The adults with DS that I know live in supported living arrangements. All attend some form of work. Most travel on trains etc alone, they drink beer and some get married. It's very diffrent from the situation a few years ago.

Ds3 (NT aged 5) says he wants to be a speech and language therapist when he isn't being a train driver. I actually can see him working with LD's in some form as he's so caring and protective of ds1.

Quite a few of the people we have come into contact with via ds1 have siblings with LD's thinking about it.

My DS has down's diagnosed before birth via amnio. He is almost 2 now and doing really well (pics on my profile) .
Just wanted to add to all the great advice and comments you've been given so far especially when you mentioned about bringing a child with DS in to the world as I thought about this a lot during my pregnancy , that and also will I and my family still be able to do all the things we did before?

As soon as I held him these thoughts didn't really matter anymore as with any child I just wanted to get to know him and experience all he had to give.

Our life has gone on as before (apart from having 3 instead of 2) but things have changed mostly for the better. The extra appointments are a pain and he was born with a heart defect which was hard however both me and my DH have both said we appreciate our children and each other so much more now and are far more relaxed happy to go with the flow.

We do not know what the future holds for any of our children but our son has taught us to slow down and take each day as it comes (cheesy, I know). I am a contact in my area for those with prenatal dx of DS and the questions you've asked are by far the most common. They are difficult to answer, all I can say is from our experience we were willing to take a chance on our baby and accept and deal with whatever comes
along.
Good luck with you're pregnancy whatever the outcome.