My nuchal scan shows a hIgh risk for Down syndrome - don't know what to do?

[LiliAnjelika]

I'm 37, 12 weeks pregnant, and have just been for a nucHal fold scan. THe test turned up a 1:42 risk of Down Syndrome based on age, and nuchal fold. I wasn't expecting this result at all, as my last scan - aged 35 - was really positive and I was basically just going for reassurance. I've wanted this baby for so long and cannot bear the risk, however tiny, of miscarriage posed by diagnostic tests like CVS and amnios. I don't think I could face a termination either, if the results weren';t good. ON the other hand, I don't think I could cope with a disabled child. Basically, I think I'm probably facing 6 months of hellish anxiety and sleepless night and I wish I hadn't done the bloody test in the first place.

JUst wondering if anyone else has had this experience and how they coped?

Lili - my little pamphlet on DS says that amnio carries 1% risk of m/c and that CVS carries 1-2% of m/c. Not much difference in it, but I guess you could say there is potentially twice as much risk of a m/c with a CVS.

Sorry lili - meant to add that I hope you get a more reassuring result on Saturday... Interestingly, although my wee booklet mentions that 25% of DS babies are born to people who are given low-risk assessments, they don't mention what percentage of so-called "high-risk" people have DS babies. Which is a shame because I think that's a fairly fundamental piece of information to help people assess their position...

Hi LiliAnjelika - I have a DD with Down's syndrome. I was low risk when pregnant with her and she had DS, was high risk with DD2 and she hasn't got DS. Those nuchal tests are so hard they really are. The only way to know for sure is a CVS or an amnio. They aren?t nice things to put yourselves through and only you know whether you are prepared to go through them and also risk the miscarriage.

Lottie, my eldest, who has Down's syndrome, is the absolute light of my life and anyone who meets her is touched by her in some way. I?m not just saying that. She gives the best cuddles and strokes your cheek with her chubby hand and you just melt. She's incredibly funny, cute, so polite, charming, very naughty, strong willed, hard work and delightful to be around. Like most other kids really! Other than having to maybe help her do things a little more than the average kid there really is no difference. You just crack on and do the job of a mum and you don?t think about it, you just love unconditionally. She's slower to walk and has a limited vocab, however she makes herself understood really well and gets around brilliantly. She makes me, and everyone who meets her really appreciate everything. You don't take things for granted with her and I am most definitely a better person for having her in my life.

She attends mainstream school where everyone in the school knows her name, in a positive good way. Older boys in year 6 walk past and shout out, 'hey Charlotte, hello', she's in reception, no other kid gets that. They had to draw up a rota to prevent arguments over who gets to sit next to her.

She was the easiest baby in the entire world. Slept through the night from day 8, was just amazing. I was watching old footage of her on video on Mothers Day and my whole family sat there with tears in their eyes looking at this amazing little baby with her happy excited face and huge eyes.

She makes me so so proud. Yes it can be hard work sometimes, but being a mother is hard with any child. But she gives me back so much.

I get a daily report on Lotttie, and the first week after half term it was awful every day, lots of shouting and not co-operating etc, then she suddenly decided she'd settle back in and every day that report has made me well up with pride. She's just so amazing and I adore her, so, so, SO much. She's the absolute sun in our lives and I thank God for her every day and am so so happy I'm lucky enough to be her mum. She rocks, she truly does. The world is most certainly a better place for having Lottie in it. I wish there were more children with DS in this world, they make it a better place to love.

Sorry have properly waffled. I could wax lyrical about her all day long! You got me on my favourite topic, my girl!

Ask me anything you want and I'm here to talk and help if i an.

Hope you're feeling ok.

Eidvoid, your little one is gorgeous. Has made me feel so much more positive. Will follow the threads you suggested later.

Thanks to all who mentioned KYpros Nicolaides clinic on Harley Street. I've decided to definitley go for a second scan, which will this time include a scan of the nasal bone. It should give me a clearer picture. I've got an appointment next wednesday. I may have a CVS afterwards, depending on what they say. I don't think I'd opt for a termination though. If the result is that my baby iS DS I'm just going to have to do a lot more research on what bringing up a child with DS entails.

koonelly, what was your risk and how thick was the nuchal fold? I know that if I was older (say 40) my risk based on a 2.6 mm nuchal fold would be much higher than it is now, so in a sense, I'm not really that reassured as it seems to me that the fold is the more significant thing! BUt then what do I know I suppose.

Anyway, my dd is now clambering for attention so I must go but can't wait to speak to you all later.

Hi Lili. Just wanted to let you know that when I got my blood results back from my Nuchal they reduced the risk by 8000!! So there can be quite a difference between the initial result and the blood test result. Good luck

Teecee, your message is inspirational. I'm going to print it out and read it whenever I feel panicky. Lottie sounds lovely. Can you send a pic? I'D love to see her.

My mother once knew someone who had a son with DS. I remember a conversation in which she was talking to my mother about how expressive and loving her son was compared with her other child, although obviously, she loved them both. She was worried though about how he would cope once they got older and possibly unable to look after him? They were older parents. This was around 20 years ago and I'm sure there;s much more support around today but I don't enough about the subject to know whether children with DS can live independently?Presumable there;s a wide specttrum of disability and it all depends? Do you have any concerns about the future?

Speak to you soon

Hopeitwon'tbebig - amazing! Will let you know what happens with my results on saturday

I'll second everything TC and eidsvold have said. My DD3 is a gorgeous cheeky little girl, we wouldn't be without her. I have had tragedies and bad things happen in my life. DD3's birth wasn't one of them!
Check her out on my profile
good luck with your scan xxx

Hello, oh so pleased you came back to chat

I have a couple of pics you can see in my profile actually. At trhe end on teh blue box with TeeCee in it is a little yellow rectangle. If you click on that and then go down the end and it'll say TeeCee's photos, you can see her there.

Do I worry about the future. Umm I guess I do a little, but no more than I do with my other DD. I'm currently pregnant with no 3 and I'll worry about them too, (oh great!!! )

A large number of adults with DS ive independently. Many have jobs, get qualifications. Hey there's probaly a great many people with DS out there that do a whole lot better than some adults who don't have special needs!

I have no expectaions for Lottie. I just hope that what she does she does to the best of her ability and does with a smile. I think she probably will live indepentently tbh, she's only 5 now but if these last 5 years are anything to go by she'll have her own flat and have a very happy and very fullfilled life. No reason why she won't, no reason at all that I can see. But if she doesn't, if she never leacves home, how lovely. I get my little mate all day every day. That's just fine by me. However I think she's already too independent and strong wileld for that to happen, but we wait and see.

Work wise, well, I doubt she'll ever be a lawyer, but doe sthis face look bovered, does it?!!! She may do volunteer type work, sje may do a paid job, I don't really care as long as she's ahppy, and I firmly believe she'll be VERY happy

Other worries. Hmmm, no not really, I can';t think of anything. I think I'd worry nmore about my NT children (NT means nerologically typical, better than saying 'normal', what's normal anyway aye?)

About the wide specturm. I'm not realy sure tbh. I don't think it's that wide, not the way it is with children who are autistic. Yes each child varies etc but I know about 12 children with DS now and they are all as fab and able as the next really. Some children with DS are born wioth heart defects but this will be picked up in your scans so you'll know if that is going to be the case with your abby or not. Edisvold and my friends DD both had heart defects that were put right and with both little girls you'd never know they had heart problems to look at them now. I help runa little club for parents with children with DS and we meet up every other week. We all just stand round nattering and laughing at our children. I just think it might be nice for lOttie to know other children with DS as she grows up.

Hope to 'chat' to you soem more.

TC xx

I have had 3 CVS tests and they were fine.
My doc put it very clearly to me

CVS results in 1 week termination = suction job
Amnio results 3-4 weeks termination = full labour.

Sorry to be crude but these were her words not mine

My first was as a result of a dodgy scan

for more info and support - contact the Down Syndrome Association UK - they are fabulous and able to provide you with informative and up to date information.

website here

ohhh Edisvold beat me to it, was just about to link you to the DSA!

(ps - Hi Edisvold )

It may not help at all, but when I went for my scans (currently 21 wks PG) the nuchal also measured 2.6mm and I was told that anything under 3mm is counted (in that hospital anyway) as normal. They specifically took the time out to explain all this to me as with my last pregnancy (unfortunately lost at 21wks pregnancy) his nucahl meansurement was 13mm.

I'm 35 and when I had my nuchal measurement, age, weight etc added to the blood tests it all came back as low risk.

This may not help at all but your stats don't sound dis-similar to mine. I was not given my odds of a problem until after bloods had been taken into account.

Good luck!

Chooster, thanks for your information. Really interesting. Do you know what the significance of weight is? I'm pretty tall 5 ft 9, which they didn't note, and not exactly size zero, so I don;'t think weight is going to work in my favour!

On another note, I can't believe how much contradictory information exists out there. It makes me really angry sometimes. i always end up surfing the net for information I can't get from medical professionals and end up having to negoitate minefields of misinformation.

Good luck with this pregnancy. keep me posted.

I've been checking out teecee, eidvold, and the headgirl's profiles this afternoon too. Their stories have made me feel miles better, and I'm almost positive that I now wouldn't consider a termination. (I had a termination 10 years ago and have regretted it ever since..I was young, totally self-centred and very scared of parents at the time) I wouldn't want to live with even more regret...

Once I work out how to stick pictures on - what a luddite - I will create my own profile page.

Hi LiliAnjelika - you seem to be getting your head round this really well.
Personally I think you can easily and are very likely to regret not having a child but can't imagine it is possible to regret having a child.

I read this article by Simon Barnes, a sports writer for The Times. He has a son with Down's syndrome. I thought this article was brilliant.

Hi LiliAnjelika... My friend had her results come back very high risk (don't know the figures) She had a scan and then progressed for the Amnio.. I know the whole wait was around 3/4 weeks and she said it was horrific. All results came back normal in the end and she had a boy in Jan. However like you she said she will never have the blood test again.

In my pregnancy I could not have the blood test, as had a massive bleed and the consultant said my test would be invalid, as were certainly come back high risk. We made a decision not to progress any further investigations and wait for the abnormalities scan at 20 weeks. We thought that even if the baby had DS we would not consider termination unless the baby had a condition that they could not live with.

I have also heard several stories about when they have got the tests wrong...But everyone has to make a personal decision on whats right for them.

Best wishes and hope you have a very healthy child.

LiliAnjelika - that article I linked you to is long but brilliant and if you have 10 minutes, it's a great read.

LiliAnjelika - I am most certainly pro-choice, but as the mother of a child with Downs I don't sit on the fence on the matter - I think you'll find that the baby you are carrying is just what you have been waiting for, all three of my daughters were, however many chromosomes they have.
As TeeCee has said I doubt you'll ever regret going through with your pregnancy. I wish you lots of luck, don't let mind boggling statistics rob you of enjoying your pregnancy xxx

I love TeeCee's and the headgirls posts. Love them.

I actually feel good today. The Times article by the father of a son with DS that teecee posted is so moving and beautiful. I love the line where the writer says, "When you get down to it, nothing to do with love is that difficult."

I suppose the problem is that people who have no experience of DS imagine the absolute worst. It's also a social issue; the way people respond when you say you have quite a high risk of having a child with DS. They look shocked and horrified and embarrassed, as if someone has died and tghey don't know what to say. A friend of a friend gave birth to a child with DS last year. I remember someone asking me whether I thought it was still appropriate for them to send a card or flowers! It seems unbelievable now. When I said back in the first post that I couldn't cope with a disabled child, it was as much about the social aspect of bringing up a child with DS as about anything else. Already I feel totally differently about it.

I still want everything to be ok with my scans of course. And I still may go for a CVS, not because i would consider a termination, but because it would help me prepare mentally, do research etc.

So many things have come from this MN talk. I've been given loads of info, which I've followed up on. Teecee, the headgirl and eidvold's post have actually changed me! Thanki you so much everyone.

One more thing I'm going to do is to write a letter to the centre that did my nuchal scan. Having read about the experiences of other women, I think it was incredibly bad pracice of them to give me an incomplete result, which has resulted in lots of possibly unneccesary worry. I also think it's quite unprofessional to be asked to phone up for your full result. Imagine being told that you had a really high risk of having a child with an abnormality over the phone. This should definitely be done in the context of a consultation I think.

Anyway, I will keep everyone posted, but whatever happens, I now feel okay about it, and that's all down to MN!

just wanted to let you know that the same test result (don't know the exact ratio) "happened" to a friend some time ago. She had an amnio done right afterwards that showed it was a wrong result. The baby is perfectly fine and all is well. Sending you positive thoughts!

I'm reading this thread with tears in my eyes. I went through the same horribly anxious experience last summer - it can really spoil what is supposed to be an exciting time. I decided not to have an amnio because I was nervous about the risks. My DS was born in November and he's absolutely fine. Just keep reminding yourself that the odds are still VERY much on your side. Glad you're feeling more positive.

hi, know a lady who had her first with no problems, and her second after 16m had ds risk, she was very worried but went thru cvs, and amnios. the rsult came fine, and she had lovely daughter. as 20w prgenant, i understand how you feel like. im glad you feel better and looking forward doing cvs. im sure baby is fine, it could have been nay of those mistakes. but we know sometimes its worth checking they are fine, and healthy.
good luck, will be thinking of you.

HI Lili

Am glad you are finding this thread of support and comfort. I don't think anyone thinks they can cope with a disabled child at first - its such a complete shock a lot of the time and its not as though there are a sub-group of people who exist that are particularly cut out or equipped to deal with disabilities.. it just happens and you get on with it. I completely agree with what other posters have said about it being far from all doom and gloom. My dd has a rare chromo disorder and is an absolute delight.

I wish you all the best for your pregnancy and beyond. My only advice is if termination is not really an option for you; consider amnio rather than cvs as it does carry a lower risk. Take care

LiliAnjelika - great article wasn't it, and hundreds of lines made me jump up and say 'ohhh tht's exactly how i feel'. I also loved the line "When you get down to it, nothing to do with love is that difficult." It just sums it all up. The thought of having a child with special needs is utterly terrifying. You can only imagine the huge dramas that must surround havign a 'disabled' child. The reality is so different, you have a son or a daughter, and they happen to have an extra chromosome. You just get on with the day to day humdrum of living, and loving. End of really, it really is as simple as that when it comes down to it.

I remember when i had Lottie, everyone spent a few minutes reeling from the initial shock and then it was down to celebrating. D and I phoned people to tell people our news and made sure that we said 'we've had a baby girl, she's beautiful, just the most perfect little thing, huge eyes, was 7lb 7oz, mother and baby doing fine, oh and by the way she was born with Down's syndrome'. Only 1 person stood back and said 'errr do I still hug you?' and I replied, of course you do you daft bugger I've just had a baby girl that's something to celebrate.

I'm really happy that you feel ok today.
I'll keep this thread on my 'watching' list and will check back in on you so would be lovely to hear how you get on.

Whther you child has DS or not, it really all will be ok int eh end, either way.

Lots of love - TC x