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

The further along you are the more tricky a nucal is to measure. At 16 weeks you can have a CVS, although slightly more riskier than an amnio by about 1%.

teecee - love your pics.

cspeak - i've had amnios for my last two children, the last time we had a 1 in 10 or 11 or something chance of ds. i decided to have amnios becuase i'm the sort of person who just has to know. the risk from an amnio where i live is 1 in 200. btw i have gone to have the amnio, changed my mind and not had it, then had it re-booked. don't feel forced into anything - you can always change your mind

I agree that 1:206 isn't high imo either tbh. There is still 206 chances that she or he won't have DS.

Cspeak just be aware that a nuchal fold scan is not any kind of certainty if that's what you want.

My sister had 1:1500 on her nuchal fold and her DD has Down's. She's totally super btw, in mainstream education, reads, chats and is in many ways a lot easier to parent than her NT (neurologically typical) brother!

In other words, echo Teeecee's lovely post.

What you need to decide for yourselves tho is whether or not you would have a termination if the baby has DS. If definitely not, then there's not much point risking MC with an amnio. But I think you are too ate for CVS so amnio is the only option if you have to know - ie if you would terminate.

Nobody here would judge you on that btw, look at threads by myfairlady and rosie (search archives) who had to make the same agonising decision and got lots of support.

Please keep posting as lots of people on here can answer your questions, tho the big one is one only you can deal with.

Can I just agree with TC et al about not being special. My ds has mild Aspergers and dyspraxia, but can be pretty tricky at times. People don't get 'chosen' to have children with any sort of special needs. You just try to step up to the plate as you do with any child, and love them EXACTLY as you do any child.
I think you have two choices - amnio for absolute certainty, which might be your best course given your state of panic, or just think of it as two packs of cards lying face down, and you have one go to pick out the seven of spades in just one pack. Likely?

TeeCee, you're of course correct that I wouldn't love my daughter any less. She is the light of both our lives so I understand completely what you mean.

Castlesintheair - We live in North Cumbria (near Carlisle) and I've been told they do the Nuchel in Newcastle. Probably the closest point for us (90 minute drive).

I appreciate that odds of say 206 to 1 seem quite long ones. I certainly wouldn't back a horse with those odds, but until they do the rest of the tests, we won't know for sure if they will go up or down.

I'm pretty sure that we would have the amnio if they odds shortened, for peace of mind sake. Then what we do from there is still undecided.

Hi CSPEAK - I was a high risk blood test wise with DS1 (greater than 1 in 100) and chose to have an amnio. All was well. I chose to have an amnio for ds2 with no blood test and again all was well.

I was told that the m/c risk for amnio is influenced by the experience of the doc doing it and by the possibility of infection being introduced through the amnio needle. If you do go down that route I would advise to, if possible, hold out for an experienced doctor to do the procedure (ask them how many they've done, maybe even their m/c rate?) and check that it's not an MRSA hospital and that the amnio site is fully swabbed, etc.

Good luck tomorrow - the chances are that all will be well.

This table might be useful.

Good luck with the rest of your results.

Hi cspeak. My pregnancy with ds was high risk , about 1 in 100 and we had an amnio.

It was a real worry because of the mc risk but I just needed to know all the facts so I could prepare. I was 24 and he was my 1st baby. The results came back neg for ds in the end.

I completely understand the difference between hard statistics and 'emotional statistics' - the slightest .1 of a question mark or unknown-ness sends you into 100% upset.

My DS was identified as having a couple pof 'soft markers' for 3 separate trisomies, of which two are generally thought to be 'non-viable'. We did have amnio - and the week spent waiting for the results was a blur of misery, panic, uncertainty and stress.

You are doing the right thing by seeking info and supoprt, and I hope the consultant can help you clarify your options.

I had cvs for all 3 pgs as well btw. I don't know what we would have done if we had got a result of any chromosonal abnormality as I wasn't faced with that decision. You have to make your own choices of course and I wish you courage with those but it might help to know that my eldest has special needs and I just thank my lucky stars that there are no antenatal tests available to detect it

16 weeks is too late (I think) for a nuchal fold test.

An amnio will give you a definate yes or no - not just a risk. But you need to ask yourselves what would you do if the baby had DS? If you feel that you would keep the baby no matter what, then why risk a 1:100 chance of a miscarriage with an invasive test (an amnio)?
On the other hand, an amnio would give you peace of mind one way or another for the rest of the pregnancy.

Hi, glad you managed to start a new thread.

Sorry if I'm repeating anything as I haven't had a chance to read the whole thread but the leeds screening centre can do quite detailed blood tests over a period of a few weeks which aim to give you more accurate results. At your wife's stage of pg, I think it's too late for a scan to go with the bloods but they are more accurate than the triple test as they look at changes overa period of weeks.

Anyway, you can do it through the post. Ring them and they'll send you the pack, then get dr or mw or nurse to take bloods as and when and post them back to them. They arevery good.

HTH

We had this with ds3 (who does not have ds by the way, has a completely different and untestable for disability- a clear DS tests is no indicator of this alledgedly existent 'perfect' baby).

Like you, we were petrified. We sat and were in shcok for days- didn't know what to do. refused amnio, but the MW kept on and eventually we went. The counsellor nurse said to us- what would you do if the baby had DS? In our case it was nothing- I had worked with kids with DS and felt I could cope (I know thats not true of all, its 100% a personal decision). In the end, we refused the test (the risk of miscarriage at 1% being higher than the risk of DS).

Thats not right for everyone though.

We were also told to envisage a maternity wards with the same number beds as our risk factor. then tor elaise that only one of those beds would have the baby with DS, but it might just be you. kinda puts the risk in persepective.

There's a group called ARC which might help, and also downs association

FWIW I dont have a baby with DS, but I do have two on the autistic spectrum and yes every day is a bit of an extra challenge, and its not easy but at the same time I am so glad I have my boys, I have learned so much about my own potential and what it means to love by caring for them. I wouldn't swap them for all the NT babies on this planet.

Hi Homemama, thanks for the advice to start a thread - the replies have been fantastic and very supportive.

I'll be sure to let you all know how it goes over the next few days, as you have been a great help at this pretty disturbing time.

TeeCee, I checked out the pics and Lottie is indeed a real cutie! She and your other daughter look great together.

Speak to you all again soon.

What I do when I am trying to balance risks is just state all the potential scenrios - usually my gut answer reveals itself in the process and I stick with that.

So this is the way I would see your situation. These are the factors I would be taking into consideration.

1. Risk of DS is 1 in 206
2. Risk of m/c following amnio is approx 1 in 100 (you'll see that figure varies- but 1 in 100 is a good ball park figure). 3)Test results will give you an answer for DS and other chromosomal disorders, but without specific tests will not give you answers for other genetic conditions. There are many disabilites - even severe ones-that cannot be tested for (my ds1 was born "perfect" now aged 8 we're aware that he's unlikely to ever speak, and will require 24 hour care for the rest of his life- his condition could never have been picked up on any scan or test). 4)If you do get a positive result- what will you do? How soon would a termination be able to be carried out? You can get the results of waht they call a genetic test for DS pretty quickly- but its a longer wait for the karyotype test- where they actually visually check the chromosomes. That can't be speeded up.
3. once you have the info from 4) you then need to weigh up in the case of a bad result: the trauma of a termination vs caring for a child with DS (as that could be the choice). That will be individual, and may be different depending on how soon any termination could be carried out- as that may alter the method used. It is ulitmately difficult to say how having a child with DS would affect your life as DS is a spectrum condition meaning that children/adults are affected in varying degrees. I can say that having a severely disabled child myself I have looked into/read up a bit/talked to people about the sibling issue (we have 2 NT boys as well as DS1), and generally its been made pretty clear to me- that- providing it is handled correctly- siblings gain something from having a brother or sister with special needs. It's not all negative.

I'm aware that his post sounds unemotional for which I apologise, I've just always found setting down statements logically a useful way to make difficult decisions and weigh up alternative when there is no clear right or wrong answer.

CSPEAK, just to add - I'm not sure how far you are from Leeds, but I had a CVS done there at the foetal assessment unit (with my third pregnancy as we really needed to know - and I do wish in a way we'd known prenatally with dd2 because our shock and grief somewhat ruined the first couple of weeks, which should be so precious), they were excellent and have v. good odds.
I have pictures of my dd2 on my profile, too, if you want to have a peek.

Sending you all hugs and support.

I can't appreciate how you are feeling, I didn't have to go through it. My "routine" test all came back OK and I never pushed to have any further tests. But the moment my DD was born I knew that she had Down Syndrome, she looked up at me with her beautiful hazel eyes, and I knew. Yes it was a shock,yes it was frightening- approaching an unknown, but the love was still as instant as it was with my NT son. The only issue was I wasn't really aware of my babies "special" needs but your knowledge grows alongside your love for your child.

I am no super mum, DH is no super dad, but we love our children to bits and we will do whatever it takes for both of them.

DD started mainstream school in September and although I am still struggling with our LEA, she is progressing remarkably well with very little support. She is happy, she is funny, she is bright, she is fun and loving and has the ability to light up a room and be the centre of attention! She is strong and determined and a very confident little girl.

You have to do what you feel is best for you, but please don't be frightened by some of the literature around which can be so negative. Don't be frightened by DS, there are a lot more "disabilities" that can go undetected and sometimes I feel too much is focused on Down Syndrome.

Hugs, Dingle.xx

Hi all. I would like join the dicussion. I am booked in for a nuchal scan/blood test next week and am wondering under which condition/odds I would want an invasive test (I would probably opt for CVS). At this point I do not even know if the little one is still alive, although I saw a heartbeat at 8 weeks. I had a mc with two separate complications last year, of which the odds were 1:100 and 1:10000, so the combined probability of both complications occurring was 1:1 million. As some of you said I was the 1 in a million and somehow this experience is skewing my whole view of statistics (although the numbers obviously haven't changed: the chances ate still 1:1 million). Part of me would want to know if I would have a child with DS so that I could prepare and get more info if we decided to keep the child. On the other side I do not know anybody with DS in my immidiate circles and without that experience, there would be a considerable chance that we would opt for a termination. So thank you to everybody who is posting here and has children with DS and other difficulties. It makes it a lot less scary than imagining the unknown, which I what we are often forced to do.
Sometimes thinking about something is scarier than being faced with it. Don't know where that really fits in here.

I agree blood tests are unreliable. In fact, NICE says that they are not good enough on their own.
If these odds will blight the whole pregnancy for both of you, then an amnio might be a good idea. I would bet good money the result will be negative (did you see a nose bone on the scan btw?) and you can just relax and enjoy it more.

Invasive tests should really only be considered if the benefit outweighs the risk of losing the pregnancy.

I am sad to say I have seen normalpregnancies lost post amnio - that included one of my own medical colleagues who so regrets ever having an amnio done. He is egyptian (as is his wife) and had they been in their homeland they would not have been offered the test.

The problem is that everyone expects to get a normal result (me included) and don't think beyond that when the blood is first taken.

Hi everyone, this is my first time posting so forgive me if my etiquette isn't up to scratch .

Just wanted to say good luck to Cspeak and your wife and as everyone else has said, try not to worry too much.

I'm 9 weeks pregnant with my second and am 39 years old so we have decided to bypass the Nuchal and go straight for the amnio. We need to know for definite whether our child has DS so that we can make our decision straight away.

There's a nice article in the Guardian today about a woman with Downs.. and her boyfriend who doesn't have Downs but learning difficulties. About their challenges to have a "normal" relationship, but reality is they're living a semi-independent life and happily in love. Really nice reading.

CSPEAK, sorry if other people have said things since, just read your 12.30 post. You must be with her because unless things are hugely different here, or unless things have moved on a bit, the 'councellor' I saw said "You do know, don't you, that the chances of you having a Down's baby are lower than you terminating this pregnancy by the amniocentisis".

I think some people in those positions have no sensitivity at all. I wondered, just as I was making my way to the theatre, why she was there at all. And then there's the wait after that. But I thought, 'If I'm carrying a Down's baby, fine', but I'd like to know, both emotionally and practically. When I think about it, that Dr'S 'phone call seems like yesterday.

Lots of thinking to do, but like I said earlier, lots of love between you to help you through the hard times (and from what I've gleaned, you're there now) - could harp on for hours about the georgous two little girls in dds school reception class, but that's another time.

XXX