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?

I recived my first set of results today! (only had the test done 11:30am yest) all clear for T21 T18 T13 (think these are correct medical terms) and clear for turners. gota wait another couple of weeks for the full results but after the very unpleasant experence of yest im very releaved. they have booked me a fetal heart scan on the 23/8 back at oxford to check for heart defects but cant wait untill i see my little peanut again

Good news on the first set of results! Just to say I had a 1:50 chance and all was fine. A good friend of mine had a 1 in 3 chance and all was fine too!

Florrie that's great - what a relief.

Thank you everyone else for your replies - Adriennemole - your story is really helpful. i'm agonising over it all more and more today. I do want a CVS to put all the question out of my head but then I don't want one as it will force a decision one way or the other. To terminate I think would be the stuff of nightmares for me but DH has said if he knew if it was Down's his choice would be to terminate but he would happy to go ahead with the pregnancy if I wanted to.

So, in effect, the know would put the weight of a decision that would effect the baby & the whole family on my shoulders and that feels too big. For me, I would be delighted with whoever came along I think but I can't ignore the fact that it would effect other people and that adults with Down's Syndrome are struggling to get the services they need, which is just stressful for everyone. Is it ok to knowingly throw someone in to that?

I've mentally gone through the termination and the thought of it has made me shake.

What to do. Help, I'm in knots.

Why don't you contact the Down Syndrome Association? They may be able to put you in contact with some parents. I have yet to meet an adult/child with DS who is "suffering" (a commonly used word). Often I guess we NT's judge the life of people with learning disabilities as less worthy but tbh I don't see that.

I remember a friend had been to engagement party for someone with DS and asked her when she got back how it had gone and she said "oh you know, full of people with learning disabilities, so absolutely brilliant fun and hilarious". Which sort of sums it up for me.

You may find the affect on other people to be unexpected. DS1 has made our life harder in many practical ways (childcare being the biggest for us) but the effect on all our lives has only been positive. Outsiders don't see that, they just see a learning disabled child then comment how sad it is because he's so handsome (I always want to ask whether it would be OK if he was ugly but don't!) . And I would never have guessed that such a severe disability would bring great positives to our family. For starters it's introduced me to the learning disability community which is such a brilliant place in my experience. I feel honoured to be part of it. Cheesy I know but it's something that strikes me every time I find myself in a group of kids or adults with LD's.

I keep waiting for ds2 and ds3 to be terribly affected, but they're not. They do all the usual stuff. DS2's 'this is the best holiday ever mummy please please please can we go again' was horse boy which he wouldn't have gone on without being a sibling of ds1 (and he doesn't even like horses!). And they just treat ds1 doing his loopy stuff as absolutely normal. They find some of it hilarious (as we all do). They know they're not expected to provide hands on care for ds1 as an adult.

Would I get rid of ds1's disability? Of course, we all want our children to live fully independent lives. Would we lose a lot of positives in our life if it magically disappeared? Yes- a lot. An awful lot.

I've had a quick look and the DSA produce a booklet on Continuing Pregnancy which you can download as a PDF.

Apologies my response is rather one sided. But society as a whole tends to see termination as the expected response so just presenting my view of life with a child with LD's.

When we had to make testing decisions for DS3 I imagined life in a year's time a) with a child with DS and b) no 3rd child but having been through a termination. And a) felt less stressful than b). So we didn't have the testing we were discussing and ds3 was fine anyway (bit hairy on the autism front for a while, but clearly fine now).

I find that imagining 2 different futures can work well for me when I don't know what to do.

I really, really feel for you. It is so difficult when you find that your partner has a different view of what you should do. My partner and I were agreed when we were in your situation, luckily, but the doctors told us that that was one of the biggest hurdles they had to face: when a couple couldn't agree.

I don't know what to advise you. I am someone who likes to have knowledge so I had amnio... but with that knowledge comes a terrible responsibility. At the moment your head is racing through all the possible lives that your child, DS or not, could have and how that will impact upon everyone else.

One thing that helped us was meeting a neuro paedo who explained very carefully the likely issues our baby would have if it survived and another very kind doctor who rang us at home and talked about our relationship, our lives, our health and how we thought we would cope with these issues in reality/practically.

Perhaps you can get some help together discussing these and then maybe it will help strengthen your husbands support to go ahead (if he sees he will be able to cope) without tests if you still feel that that is what you want to do or if you do go ahead and if DS is diagnosed.

That said, there is no telling how healthy any baby will be when they are born (all the things they can't discover right now, birth injuries etc.) and we all have to live with that to some extent. Once one has had a scare like yours though there is a kind of grief for the innocence of the dream of the 'perfect baby'.

The most senior consultant we met said that whatever decision one makes in these circumstances at times, and sometimes for long periods, that decision will be the wrong one. I think that was very wise.

Just want to really apologise for sounding at all negative about the possibility of my unborn child having a disability of any kind. We have, of course, accepted and embraced that possibility as very real. It was merely to reassure Brown (and myself) that all possibilities are open at this point.

I totally and utterly agree with Saintly and CMOT, which is why we came to the decision we did at 17 weeks. One of my closest friends grew up with two disabled siblings. She is the most kind, considerate and generally amazing person I know and I suspect that has something to do with having been raised with two disabled siblings. I would be delighted if my own son, DS aged 3, turned out as lovely as she has so I think, if anything, any kind of disability can only have a positive effect on other siblings. And, as both of you say, there are so many unknowns about the whole process of pregnancy, delivery and every day of life beyond that. . . so much that can't be diagnosed with an antenatal test, so much that can't ever, ever be predicted.

Brown, I have my fears about how a child of mine with DS would cope when I am no longer able to support, but I have that same fear about my DS as well, who is entirely 'normal'. I think that's part of being a parent. Good luck with the decisions you're making now. Goodness knows, they are not easy, any of them. But you seem such a really kind and deep-thinking kind of person, you will arrive at whatever decision is right for you and your family. Thinking of you lots.

Sorry, responded to messages on p.1 without realising there was a p.2! Just wanted to add that I'm delighted for Florrie83 with her positive test results. Brilliant news!

I also wanted to agree, again, strongly and heartily with saintly who envisioned a future having terminated a child. So funny-- we did the very same, and simply couldn't envision it, whereas we could quite easily envision a future with our second child- with or without DS. Like you, Brown, the thought of a termination, at any stage of pregnancy, made me shake. So many people (within the medical profession and outwith it) DO see it as the expected option. For many people, it is the right option. Just go entirely with what feels right for you. We were lucky in that my husband and I felt exactly the same, but it also sounds like you and your husband can easily achieve common ground. Perhaps, as many wise others have suggested, more information from professionals and those who have disabled children, would help you find that common ground without either feeling reluctant, resentful or compromised?

I think it makes it harder for me in that DH only agreed to a 3rd child because I was so keen - he was happy to have just 2. I then had 2 miscarriages and now we're in this situation :(

Hello BPS

I just saw your last post and it was the issue of having the 3rd child which made me want to post.
We had two children - and were intending to stop at 2, got pregnant and even though we had a 'low risk' pregnancy according to the nuchal scan, our 3rd child was born with DS.

I have said this time and again - but he genuinely is the easiest of all 3 of my children - his brothers love him, they are not adversely affected by him (apart from the fact that he is a toddler and therefore must destroy all that is theirs )

it isn't easy - but for me a massive part of that is having 3 children and that each of them needs different things from me. My 1st is sensitive and needs more reassurance and time, my 2nd is so confident and full of beans and needs more direction and time and my 3rd needs to practise things more to learn properly and so needs more of my time. GAH - it's finding the time thats the hard part!

I don't think what I have written is particularly helpful. I do know that when we had a query about our first child having DS, my other half wanted to have a termination. he didn't want a 3rd child at all but he has never for a moment done anything other than love our youngest and accept him for who he is.

FnD - your family sounds exactly lIke ours, with our two having matching personalities to yours! That really is helpful and does seem to be the consensus - thank you so much for posting. It is very reassuring.

Hey I'm new to this. Just been told on Tuesday our baby has 1:5 (20%) chance of having Downs Syndrome and some cardiac problems. Both very worried considering we are only 24/25 years old. We have decided to go ahead with the Amino test which will be in 3 weeks time when I am 15wks6days. Been reading all of your issues and it's so nice to feel like I'm not the only one. And so many positive outcomes. Our baby's NT is 3.9mm so only out of 'normality' by 0.4mm, but still puts us in the high risk. Baby will be loved no matter what just doing this test to prepare for whatever result will be. I feel fine in myself and pregnancy has been normal. This is our first child though so still learning :) thoughts and opinions would be good. Basically just want reassurance this test is okay!! Thanks xx

Didn't want to read and run. Sorry you're having to go through this. No experience of having an amnio although I had a CVS carried out early last year after an NT measurement of 6.88 in our unborn daughter. We didn't have good odds of all being ok and things didn't work out for us that time. There is still an 80% chance nothing will be picked up. However if you are that 1 in 5 then your baby will be lucky to have a mummy who sound so lovely. There's a lady on these boards whose dd has downs syndrome and she is amazing- so positive and she talks so wonderfully about life with her daughter. Wishing you lots of luck and happiness x

ps. 3 weeks is a long time to wait. Did they offer CVS testing? Or could you pay privately for harmony / nifty testing. I'm almost 37 weeks pregnant and after last time we chose to have harmony testing carried out. It came back clear and was worth every penny!

Hey.
you've probably read my story on other threads here, but we were in exactly the same position as you.
Nuchal of 3.6, 1 in 5 risk, possible heart defect at the 12 week scan.
It really shocked us, you go along all smiles and anticipation and they pull the rug from under your feet!
I was the same. A fortnight's wait for an amino. I later learned that this is because there's a risk of a false positive from a cvs due to mosaic ism where DS is present in the placenta but not the baby. Annoyingly I had to have a cos anyway because the membranes around the baby hadn't matured to where they needed to for an amnio.
Anyway, the pre CVS scan took our odds to 'higher than 1 in 3'. The actual procedure is a doddle. uncomfortable bit it doesn't hurt. I would keep your eyes on the monitor, not the needle, but it'd honestly ok.
Anyway. 4 days later our results came back positive for DS. I was properly, truly devastated, but she wasn't going anywhere. And although pg was long and worrying and full of doubt, she is here and she's bloody marvellous!
She does have a heart defect, but it was fixed with open heart surgery at 12 weeks. And she hasn't looked back.
What I'm trying to say with my wittering, is that everything seems terrifying right now, but if the 'worst' happens, it's not so bad. I don't see myself as having a baby with DS. I see myself as having a baby. And I love her to pieces! :-)

Definitely look into Harmony/NIFTY/Panorama etc. Unless you're at certain London hospitals you do have to pay, but a) you'll get results back quicker than your wait for the amnio and most importantly b) no risk to the baby.

The chance of a false negative for T21 is extremely low, not far off that of an amnio.

I had a 1 in 5 risk too, had Harmony, nothing else. The doctors at the Fetal Medicine Centre in London who helped develop the test told me I could trust the result and I did. It was negative and my 10 month old baby has typical chromosomes.

All, after what has probably been the most stressful week of my life - partly because I have had a good life, and partly because my wife and I have had a long and complicated journey to parenthood (with missed miscarriage and failed ivf)- we have just received some good news re our risk of chromosomal conditions and I wanted to share to give others some hope.

We were given a 1:5 chance for down syndrome 8 days ago following the combined test. We had our scan at 13 weeks 4days (late because of ‘new processes’ apparently). Our nuchal translunceny measurement was 3.2mm, our bhcg 2.48 and Papp-a 0.42. My wife is 32.

I found the forums very helpful with lots of positive stories of high risk with good outcomes. However, I was disconcerted that most of these seemed to have either a high nuchal fold measurement or obscure bloods. No ‘positive’ stories seemed to include both, which is partly why I emphasise our readings (above).

Anyway we had the nipt today - it will be free on the nhs for high risk mums in November 2018 - and went with the IONA test. This test has more than 99% accuracy rate, whereas the combined test is now rated as about 85% with 5% false positive.

Anyway, our results were received this afternoon and not only have we moved from high to low risk, but from a 1:5 chance to