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

i don't know about the scores i'm afraid, but your baby will be perfect to you whether it suffers from ds or not x

I was 35 and I think my score was roughly about the same. dd1 was 14 months old too. It is shocking, isn't it, but you will get through this together, the fact that your wife has such a supportive husband will be a rock for her. Have you been offered any other tests? Nuchal scans weren't common 7 years ago so I had an amnio.

this link might be helpful

1:206 is not particularly high. It may be that you will be offered a detailed scan.

Unfortunately you get 'false positives' with screening tests that increase anxiety in pregnancy. Screening sometimes causes more problems rather than reassurance. Hopefullyy everything will be fine.

Be sure to write down a list of questions for the spacialist tomorrow. Try not to worry.

thats means that out of 206 babies one will have DS. pretty good odds if you ask me.

That means that there is a 99.5% chance that your baby doesn't have DS. Pretty good odds!

IIRC the cut off point for low risk is 1:250 so you're only just under.

I honestly think alot of people get much higher odds and their babies do not have DS.

My friend had results of 1 in 50..she had an amnio and the baby did not have downs. However she was very upset after the amnio as it has a 1 in 100 chance of causing a mc and she had pains for a day or two after, but all was well.

I'm sure as another poster said, you will love your baby whatever problems it may face.

Best wishes.

Hi CSPEAK, sorry you're going through stress at this time.
I can't really comment on the odds - someone will always be that 1 in whatever, whether it's 20 or 20,000. I can however comment on having a baby with DS.
My dd2 was born with DS, she is 6 now and an absolute joy. Of course she has delays on some areas, but she attends the local mainstream primary school and is a much valued pupil there and doing well.
When she was a baby she was just like other babies really - she was bonny and very happy and smiley, would coo and gurgle at everybody and play with her toys - babies with DS really aren't particularly different from those without, apart from developing slightly slower.
She is our middle child and we feel so lucky to have her. She complements our family perfectly and makes us proud every day. She is sweet-natured, funny and very easy-going. The DS is just a small part of the lovely person she is.
Anyway, I hope things go ok for you all - try to find out a bit more about DS, maybe look at the Down's Syndrome Association website so that you feel a bit more educated for your appointment tomorrow. All the best!

Hi,

Thanks for replying so speedily!

We haven't been offered any other procedures as yet, but I believe we will be able to have an amnio tomorrow should we want one.

They will do a scan first to check for any tell-tale signs I believe.

The amnio is a tricky one though. The 1:206 is obviously classed as 'high risk', but they are better numbers than some of the lovely people I've read about on here, who turned out fine. Do we risk the chance of MC?

We've talked at length about it and we're still not certain. We'll have to wait until we see what happens tomorrow. If the risk goes up, then I think we'll have to do an amnio. What we do after that is too distressing to fully comprehend yet.

Taking it day by day but it's so stressful.

Hi Cspeak

I just wanted you to know that IO have 2 wonderful daughters and am expecting a 3rd child in September. My eldest, Lottie, has Down's syndrome. She doesn't 'suffer' from Down's syndrome, she jsut has it, it's part of who sje is and doesn't in anyway define her. She's just my eldest daughter. She's also beautiful, bloody funny, very cute, extremely naughty, strong willed, stubborn, and full of fun. In essence she's just like my other daughter, she just takes a bit longer to learn stuff and she has 1 extra chromosome. Nothing missing you may note, an EXTRA chromosome! You can click on that little yellow box on a tilt in the blue box with my name on it and go into my profiles. Page down and you can see some pictures of her.
Anyway, I'm here to talk if you and your wife need to.

It's the unknown that is the scariest thing about all this. Not t=knowing if you are carrying a child and not knowing about Down's syndrome. Let me assure you that Down's sydrome itself is not at all scary, far from it in fact. My daughter without DS is a lot scarier!

TC x

How many weeks is she? If less than 13, ask to have a nuchal scan and combined blood test (it can be arranged privately if necessary)
Blood tests alone are notoriously inaccurate, the combined test is better.
The 'Cut off' point for a high risk is 1:250, so 1:206 is higher than the cut off risk, but not so bad.
If you think that having an amnio can have a risk of miscarriage of 1:100, it puts it into perspective.

If you search on here, there are lots of threads about the tests and results.

e.g. here for example

Amnios usually carry a 1-2 per cent risk of miscarriage depending where you have them done. Whereabouts in teh UK are you based?

In my opinion 1:206 is not particularly high, I was given a 1:10! How many weeks pg is she? If you want to find out more information on your odds, you can have an invasive test, CVS or an amnio, the specialist will discuss your options.

Personally we decided against invasive tests and had detailed anomaly scans around 20 weeks, that showed no obvious soft markers for DS. This of course does not rule out the possibility of our baby having DS, but with 2 weeks to go until our baby appears, it will make little difference to us if she/he does have DS when he/she does appear. It was a difficult time in deciding whether to do an invasive test or not and what we would do if the tests showed the baby did have DS. These decisions are ones that only you and your wife can make, take your time and make sure you feel fully informed, difficult to say but try not to worry too much.

TeeCee..I liked your post very much. And you girls are both gorgeous..

Hi Cspeak, I'm no expert but I don't think 1:206 counts as high risk. My baseline score before my nuchal was 1:186 (I'm 36) I seem to remember reading somewhere the national average risk is 1:250. I had a friend who had a 1:90 risk and went on to have a baby who didn't have DS. I wouldn't get too upset by this result. Do some research, on risks, on the amnio results for your hospital or whatever (the risk of miscarriage after amnio is usually based on experience of person doing the amnio) and all sorts of things. I wouldn't start to worry too much. These decisions are really personal, but I had decided before my nuchal that unless my scan result was in double figures I wouldn't be having an amnio. I hope you are able to find some answers that help x

have a look at \link{http://www.ds-health.com/prenatal.htm}

It might help you....

If you think you won't have a termination, then avoid the amnio - ok it may give you peace of mind but there's a mc risk.

If you're pretty sure you'd terminate, then it's a matter of deciding at what risk you decide to gamble vs. amnio.

Bear in mind there are loads of other problems that babies can have that aren't detected by amnio - you'd only be eliminating one of many different things that cause the (1-4%? can't remember exactly) fraction of babies who do have congenital problems to have those problems. So bear in mind even if you do find out and have a termination this time you won't be guaranteeing your next child has no problems, just that this particular problem won't happen this time. Someone can be the 1 even if you have 'good' results of 1 in 5000 or whatever.

I'm not trying to persuade you either way, but those are the sorts of things that became relevant to my own decisions when pg at different times (Downs odds 1 in 17000 first time, 1 in 500 second time, nuchal+bloods each time, both babies fine). I agree that 1 in 200+ is not that high at all - personally it was 1 in less than 50 that would have counted as a relatively 'scary' result for me, and even that's 98% certainly fine. At 38, I would have been very happy with 1 in 200. But then I wasn't aiming to rule out Downs at all costs (or I'd have gone straight for amnio), just to start with a blood test, possibly just to get me prepared if odds looked relatively risky for Downs in advance of the birth, and cross later bridges when I came to them.

Not sure if any of that helps - it may help you to sit down and write it all out, too.

Bear in mind 16 week tests for Downs are much less accurate than those carried out earlier - nuchal + two sets of blood tests looking for several different markers can change the odds a lot (either way) - so if you're not sure you'd terminate maybe think twice before having amnio+mc risk based on possibly not that good data.

why do those link things never work for me??

this is the web page I was looking at!!

www.ds-health.com/prenatal.htm

Thanks for the kind words. TeeCee and Geekgrrl, you are obviously lovely people who are much, much stronger than I am! I'll be sure to take a look at the photos of your little beauty.

We've tried to do some research but there is so much out there that it is mind-boggling! It's all stats and what-ifs and it's that unknown that is distressing us the most.

We understand the basics, but until we speak to the consultant tomorrow, we are pretty much in the dark with regard to where we go from here.

I'll be sure to write down some questions tonight - good advice.

Honestly, it's as if your world gets tipped upside-down when you hear that there may be a 'problem'.

I don't believe in wishing my life away, but I sure as heck wish it was this time next week and I knew where we stood!

Gingerbear - my wife is 16 weeks exactly and she only did the blood test last week, so does that make a Nuchel out of the question unless we go private?

CSPEAK, I meant to add that blood tests are very inacurate in my opinion. Have you had an actual nuchal scan? This measures the fluid under the nect area and you can have htis with a combined triple blood test.

I had the basic blood tests with DD1 and was low risk and she was born with DS. I was very high risk with DD2 and she doesn't!

I have to say I thank God that I was low risk with Lottie and went on to enjoy a great preganncy. Yes I went through a certain amount of shock when she was born, but am so thank ful that I have her and wou;dn't change a thing about her of the rests I did and didn't have. The world is a better place for her and others like her.

PS - sorry for my crap typing

With my DD I was classed as 1:64 risk and had an amnio, DD was fine.
With this pregnancy 4 years later, I am now 37 and was expecting another high if not higher result IYKWIM.
The result was 1:264
Find out all you can about procedures, and try not to worry too much (easier said than done I know)
The cut off point at which they recall people is 1:250 so your wife is just below that and as others have said, it is not particularly high.
Thinking of you both.
Lou

CSPEAK - no, you're wrong, I'm not strong, i'm just a mum. Being a parent means you love unconditionally. You know that, you are a dad. If anything happened to your daugheter of 17 months, now or in the future, would you love her any less? Of course you wouldn't. Lottie is my daughter and I adore her, shes perfect, she's amazing, she just happens to have DS. I'd love her just the same without it, or if she had been born with a cleft palate, or if she had developed autism later in life, or if she had an accident and ended up in a wheelchair. Having a child with specaial needs doesn't make you a special parent, it just makes you a parent.

I think you have to do a nuchal test between 11-14 weeks. Whereabouts are you in the country? A good sonographer can give you an accurate result just by looking on ultrasound.

1:206 is not high ime. I have 3 dcs who all scored around 1:30 and none of them have down syndrome.

If its any help my nuchal scan came back 1:5 for DS and 1:17 for another chromosonal disorder. I immediately had a CVS which can be done earlier than an amnio (similar procedure only takes a sample of placenta rather than fluid). It carries a slightly higher risk of mc because there is a higher risk earlier in pregnancy anyway.

The tests came back showing no risks, we then had to wait for the 20 week scan to check the organs. Our baby is due in 9 weeks and a little part of me is still worried.

Its such a worry and stressful time, you both have my sympathies. Good luck, and do try to remember that there is an excellent chance you will not have anything to worry about.

Yes, TeeCee, I meant to say that too: the blood tests can be inaccurate (especially alone) and the reason I had such a high risk.

completely agree with TC, I'm not particularly strong (in fact, my husband might say I'm a bit of a wet blanket )
I just love my children very much.