Hi risk blood results for Down Syndrome - Terrified!

[CSPEAK]

Hi just wanted some advice.
My wife (sorry, I'm a useless bloke!) recently had the blood test for DS and it came back high risk (she's 31 and we have one beautiful little girl of 17m).
They gave her a score of 1:206 and we have to see the specialist on Thurs (tomorrow).
We are absolutely terrified and were good for nothing for 24 hours.
Should we be particularly concerned by the score of 1:206?
We don't have any frame of reference as our first baby's results came back low risk.
Any words will help.
Thanks

Loopy thats not available everywhere- we weren't even offered the 20 week scan until 24 weeks or so iirc- a backlog, and when we got there they hadn't booked the decent scanner as I was only 29, they ahsdnt even looked at the test results- however the lovely sonographer did a bit of shuffling and we got the same results as you, no markers.

came to this thread late due to time differences ( I am in Aus.)

I too have a daughter who has down syndrome. We did not have nuchal fold testing or the 16 week blood tests with her. We were told at 20 weeks though that she would have a congenital but repairable heart defect and down syndrome given the type of heart defect. We had already decided we would have this babe ( different heart defect was highlighted by local hospital).

I echo all tc says - if you do a search for my name and down syndrome - there are lots of threads about dd1.

I have since gone on and had two other children - girls too. TBH generally parenting dd1 is much easier than parenting dd2 - and dd3 is just a newborn so I can't comment on her yet.

We did have a sad time when we were given the diagnosis but it was not for very long. Both dh and I were very lucky we knew families who had positive experiences of having a family member with down syndrome and I think that made us realise that anything is possible.

Our 4 1/2 yo attends a mainstream kindy and a sn kindy.

I can honestly say in parenting dd1 - I have never known such joy and such despair all in one - the despair however is caused more by others than by dd1. I could not imagine not having dd1.

I think I have put up pics of her too on my profile.

Don't want to write too much more - not sure if you are popping in before going to see consultant.

For us - we were having dd1 regardless and so to us an amnio was not an issue. IN speaking with others I have always been a bit like gess - your odds are good for having a child who does not have down syndrome. Down syndrome is not the end of your world - in fact for us it has opened up so many doors and we have met so many amazing people. If you would terminate or just have to know and are prepared to accept the risk of miscarriage than have an amnio BUT it is only a decision that you make that is made for the best of your family.

OUr daughters all adore each other and to dd2 - dd1 is the best thing.

Great posts Gess and dingle - I agree re DS being the focus of so much testing when there are so many other special needs a child might have.

Hard to see the wood for the trees tho when you are in cspeak?s position.

Hi Cspeak - just wanted to echo the posts of TeeCee, eidvold, and Clary.

To decide on an amnio puts the baby at risk of miscarriage. And to make a fully informed choice about whether or not life with a baby who has Downs is for you, then you actually need to know a family who are going through it. My DD3 was born with Downs - my odds after blood test were 1 in 90. I didn't go for amnio. Like the others, I'd suggest you check out photos on my profile, and also past threads. I wouldn't change any of my girls, they are all a joy to me. I wish you all the best whatever you decide. My only advice would be to get the full facts, including what life with a family member who has an extra chromosome is like - I suspect not that different from other families!

Good luck whatever path you choose xx

I am really thankful for the posts of mothers of children with DS. I think that while it is important to use the right words and expressions, we can often only do so once we have understood the facts a little better.

I for example have rarely met people with special needs and am utterly helpless when I do. I think it is a pity that our societey has a tendency to separate people with special needs, but I am obvisouly also to blame myself individually, since I am sure that there are open door and volunteer events, that I could have participated in.

I think often when I speak about Down syndrom or fear associated with having a cild with DS, I mean 'special needs' in general. I realise that there a big differences physically, genetically etc. , but it's really a matter of being uneducated and unexperienced in this area.

While the majority of the decision of terminaton is probably based on 'could I amd my DP cope with a child with special needs', I think there is also an element of 'how would my child fare in a society, where people with special needs are not fully integrated'. I get the impression that children with DS have probably less problems with integration than children with some other special needs.

It might also depend on whether you life in a country where special needs school etc are available on public healthcare or if you have to pay for them yourself putting a strain on the whole family.

And it is a tricky thing to start thinking about these things while you are pregnant and there are so many changes(and fears) already.

Hope I don't offen anybody with my post, I am just struggling to see things the right way.

glimmer I am sure you know lots of people with special needs.

I work with someone who has CP

My DS1 while NT, is on the SEN register at school.

what I am trying to say is that you can't divide the world. Yes, DS and other things can create problems - but so can so many other things that we can't forsee, as Gess says.

Entirely agree Clary. My dd has rare chromo abnormality. If I had had the standard amnio with FISH /PCR testing that just looks at chromosomes 13,18 and 21 it would never have picked up her arrangement. Glad I never anyway

We seem to be so in fear of disabilities - like it is some scary other. Really, it could become part of our lives (or our loved ones) just like that - through accident, illness etc. Obviously, that is scary and unwanted. Am not suggesting we live our lives in some kind of tepid anticipation of this - just that we should try and accept that our health, abilities, faculties are not guaranteed to us forever. I think in doing this we can be a lot more understanding and accepting of people who do have some kind of special need / disability.

I was selling some raffle tickets at work last year and was explaining the money was going to a charity helping kids with special needs. People knew that this was somewhat of a personal cause and I did get a few ' Ooh yr marvellous' 'Dunno how I would cope'. A few months later, one of my colleagues children caught encephalitis, was in intensive care for weeks and has a number of problems now as a result of brain damage. What preperation did that family have?

Anyway - sorry for going on. Don't intend this as some kind of lecture to the OP. I think you have got to do what is right for you and yr family. Obviously no one wants to worry about these matters during pg. I wish you all the best x

Hello all.

Just got back from the hospital, following a consultation and a detailed scan.

We spoke to the consultant initially, who told us that 1:206 is 'slightly' raised odds (the cut-off point in this area is 1:250). She also said that 6 months ago, we wouldn't have been recalled at all because the threshold for testing then was 1:200.

We decided to have a detailed scan, where they would check for the soft markers. The lady who scanned my wife was great and put us at ease by talking us through what she was doing and looking for.

Anyway, she could find no markers at all but obviously could not rule out DS completely.

We are going to get a more detailed scan of the heart at 20 weeks, to see if there are any other signs at that point.

They didn't revise our odds upwards as they have abandoned that procedure, but obviously it looks more encouraging at this point.

We decided not to have an amnio thanks to the scan result, as the risk, we felt, just wasn't worth it.

Incidentally, the consultant who does all the amnios for the hospital has been doing them for 7 years and has never had a miscarriage happen as a result. This was encouraging but, nevertheless, we opted out.

We'll see what happens at the 20 week scan but we're pretty ok about things now.

My wife said she couldn't entertain the possibility of a termination now, as we saw the little blighter yawning, picking its nose and looking around. It puts a much different spin on things.

My wife and I have been really touched by the responses of all of you on here and thank you for your great advice and stories. It really helped us to know that other people had been through the same sort of thing and have come out the other side as strong, happy people, no matter what the outcome was.

We'll be sure to keep in touch and update you on what happens in the weeks and months ahead.

Take care

J & C x

HURRAY

and PS, Whatever happens everything really will be ok, and I mean whatever happens. It's all going to be fine. Enjoy that 17 month old on her own for a while and relax and look forward to the arrival of your new son or daughter.
Congratulations and much love - TC x

I'm very pleased to read your message Cspeak, and to know you're both feeling happier about it all. I'm sure you'll have a beautiful baby xxx

I've been following your story and I'm so pleased that your little one looks healthy. With a parents like you your little one will be just fine.

so pleased for you.

Loopy that explains it, we had 12 and 20 week scans as routine where we lived then, so even though our result was 'hisgh' (in my opinion, highish) people weren't recalled, just given extra time.

That is good news - glad that you were happy with your consultation

That is good news. Glad you can rest a little easier now.

I guess I am feeling a little misinterpreted.
I am definitely not trying to divide people into two categories, but the health care system does. We are talking about human beings and they all have strengths and weaknesses.

I also absolutely do not agree that we undergo antenatal testing and assume the result will be low risk. I expect the outcome to be intermediate risk and wonder which course I will take from there.

I am very happy you are now more relieved, CSPEAK and apoogise for posting in more general terms.

Cspeak that's great news.
So glad you can feel happier with latest scan.

Keep us posted.

Glimmer, sorry, not trying to get at you. Just trying to point out that "special needs" is a term that encompasses so much, and plenty of people who are classed as having SN are integrated and yes, youhave met them, and no, you were not helpless.

ANd as Teecee posts so eloquently, if your own child has some degree of SN, you will cope wonderfully and not be helpelss at all.

Hi to all!

Just spent a little while updating my profile with pics of our little dude if anyone is interested?

Again, thanks to everyone who has posted, it really was a great comfort.

Hope you are all ok - will be in touch soon.

What a beautiful family you have! I was expecting a scan picture

Oops, sorry but my camera phone wouldn't do it justice really! It isn't very clear

Thanks for your kind words theheadgirl. I've looked at your profile too and you have an adorable little tribe yourself!

I'll be sure to check all the others out too. It's great to put faces to names. Makes it far more personal.

Speak again soon.

don't feel you're an infiltraitor CSPEAK, there are quite a few men here, they just don't show themselves as much as s women

Hi everyone,

Just a quick update, as promised, following our 20 week scan/heart check.

Well, we were pretty nervous about it (not like the first time, where we were blissfully ignorant) and I have to say they were brilliant again. We were put at ease by the lady doing the scan and were promised that if anything showed up, she would tell us there and then.

She checked for any soft markers that may have developed in the meantime. There were none and the heart scan was as good as we could have hoped.

They had a new machine that showed the blood flow in different colours (red and blue) and we were told that the heart looked fine.

We asked for the sex (we don't like surprises!!) and were informed that, as far as she could tell, we are having another little girl.

We're really happy, but, to be honest, with all that we've had to worry about, we don't really mind what we're having.

We'll have to get decorating the spare room, but at least we know the colour scheme now. It's not that romantic is it, knowing this far in advance, but it makes good economical/time management sense!

We hope that you are all doing well and we'll be sure to post any further updates as they come along.

October 10th is our due date. The countdown starts here!

It would be good to hear from all of you.

Take care

J&C x