Screening Test is High Risk fpr Downs, anyone else been here?

[faby]

Hello

Please can someone give me some advice; I live in West Lothian and just recevied news that my screening test for downs has come back as high risk. I have an appointment today for a amnio and I don't think I'm ready to say whether I want this or not ( I only found out yesterday) has anyone been in a similar position?

faby why are you only being offered the amnio now when you are 20 wks preg? I mean i had my blood test at 13 wks and the amnio at 16 wks. You'd have to wait about a month for the result (i did anyway) and by then you'd be 30 wks! Irrelevant i know as you say you wouldnt terminate for DS, just curious...

faby, I too am in a similar position. I am 28 weeks pregnant with dc3 and was living overseas where I had a nuchal scan showing no obvious problems but the blood test came back as a 1 in 10 risk, naturally I was upset, but wanted to take my time in deciding to go for an amnio or not. In the end we moved back to the UK when I was 20 weeks and I scheduled in a detailed anomaly scan with my consultant before deciding on whether to have an amnio. The scan revealed no 'obvious' soft markers for Down's syndrome and we decided against the amnio. As you pointed out, the scan is not a diagnostic tool and there is no 'guarantee', however I would have found the decision to terminate or not so very difficult to take that we have decided to let nature take its course...

no worries jj answering for me - been a very busy day and not really been on for a long period of time.

First of all - it sounds like you had the triple blood test which is highly inaccurate as gingerbear has already said despite what you are told. A nuchal scan plus blood test is about 80 - 90% accurate but still margin for error. As others have said - amnio is the only way if you need to know.

I have written lots of posts on this subject. Basically our dd1 was diagnosed with a heart defect at 20 weeks gestation. This heart defect is very very common in children with down syndrome (DS). The fetal cardiologist said it would be very rare if dd1 was born without down syndrome. So we accepted that she would have the heart defect ( serious but repairable) and down syndrome. We have since learnt our chance would have been about 1 in 5.

When we had the fetal cardiac scans we also had anomaly scans and despite being on the small side dd1 showed no soft markers for ds - just the 'hard' marker of the heart defect.

Dd1 had two open heart surgeries at about 8 weeks old and her heart is like a 'normal' one. She has regular check ups but no problems since the surgery. That is a big thing to go through as a parent.

We declined am amnio for a number of reasons but the biggest one - would not have made a difference - this was our babe and we were going to have her.

We went on to have dd2 - and at her 20 week scan we learnt that she had echogenic focii ( sp?) which increased our chance of having another child with down syndrome fourfold. Again we refused an amnio - personal reasons again - similar to above. I have also learnt that 3/4 of the babies miscarried through amnio had no conditions - iyswim. Dd2 does not have down syndrome.

I am now due to have no3 in 3 weeks and this time round we had a nuchal translucency screening and it was such a stressful time. My chance was very high as having a child already with down syndrome increases your risk but with the bloods etc it came down to 1 in 962 - which is good for an older mum like me. Surprisingly the genetic counsellor still suggested that I might like to have an amnio.

As to living with ds - really whilst there is extra things like therapy, hospital outpatient appts etc - I can't see how much more I have to do for dd1 compared with other children her age.

Sorry to post such a long message. If you want to ask anything specific - you can email me [email protected].

All the best for your fetal cardiac scan.

Glad the scan was normal, good luck with the heart scan.

malaleche

I had the blood test at 18 weeks because that is what they do in my area. It is all a bit of post code lottery. We don't get the nucal scan, though for some reason i thought that I was. Blood test took about 10 days and then had these problems at this stage. It is stupid that so many women's ante-natal care is so different depending on where you live. I had DD1 in London and it was totally different (perhaps better) than in Lothian.

Does anyone think that having the blood test again is a complete waste of time?

Hi

Sorry for your bad news

we had the same thing with ds3 and felt under pressure to have an amnio- after saying no many times, we buckled and went along only to run away . We had a scan at 21 weeks, they hadnt booked a detailed one but the sonographer swore somewhat about that and did one anyway- no markers. DS3 is now almost 4 and not DS.

I agree that preparation is a good dea however it might be worth noting (someone may not have said this) that you cannot get an all clar for everything- DS3 has autism, completely unrelated to any trest results, but it does show theres no such thing as a test for disability (not that i'd swap him for anything, he's gorgeous)

Go with your eart, and delay if youre not sure. If you had amnio, it was negative and you lost the baby? What then?

Can you have the test again? My MW told me there was a very small window for it

Do you mean having the blood test in general or do you mean you specifically having it again? I think at 20 weeks you are probably outside of the window for it to be any use. As for having the blood tests in general, I had them without thought in my first two pregnancies - they came back low result and I felt safe. I know now that they are of not much value really unless you are sure you would terminate for abnormality - in which case why not skip the blood tests and go straight for amnio?
How are you feeling today Faby? I think the advice you've been given from other posters re looking at the odds you are given is good - the odds are very much stacked in favour of your baby having no problems. Hope you're OK.

I had this when pregnant with DS1 at 36. The risk factor for my age was something like 1/269 and the blood test raised the risk to 1/150 - which to me felt like a huge leap.

My consultant was lovely (now retired and happens to live 4 doors away from me and I work with his wife - isn't life full of little coincidences?) and said that what those figures meant was that I had a 149/150 of having a perfectly healthy baby. Sort of puts it into perspective a bit.

I didn't have an amnio and DS1 turned out to be free of any genetic problems.

Did you have a nuchal fold scan at 11-ish weeks? If so, what was the result of that?

I had this high risk for downs 1:75 on one blood test 1:110 on the other and spent 3 weeks very worried and decided not to do the amnio but we had a private scan at leeds which was good. I very sadly lost my baby to preterm labour but she did not have downs and even if she did it wouldn't have mattered to us, I would not have the test again. Not much help but for us the results were not correct. Good luck hope all is OK, chances are all is very well with your LO. x

Faby, I know how you feel.

My blood test came back 10 days ago 1:20 it is a worry but I too have decided not to go for the amnio until I have had my second scan which is in 3 weeks. At the moment I do not want to go for the amnio as I do not want to worry myself any further.

It seems there are quite a few of us in this position. Let us know faby how you get on with your fetal heart scan.

It has certainly made me feel better knowing there are others out there and such support. I am glad that we took our time to make our decision to have an amnio or not and surprisingly I encountered no pressure from my consultant to go ahead with it.

Hello Ladies

I am starting to feel a bit better. For those of you who asked we did not get offered a nucal scan and I had the bloods done at 18 weeks. I am since learned that there is no point me having the bloods again too late now. I am 100% sure that amnio is not for me. I am sorry for all those who are in the same boat it is not a nice feeling. I will keep you all posted on the further scan and I will enjoy the rest of my pregnancy, I hope that everyone else does too xx

good to hear from you faby - take care and keep us posted xx

just a wee bit to add Flurryfurry, please let me know what decision you made amnio or not. I hope that you scan goes well!

good for you faby, I hope you can now enjoy the rest of your pregnancy.

Fluffy, keep us posted on what you decide to do, take care.

After my nuchal scan I was given the high odds of 1:28 but like many others we decided that we wouldn't terminate the pregnancy whatever so we decided not to have an amnio. We waited for the 20 week scan to get more detail and were told that there were no soft markers for DS and all subsequent scans have been fine (I'm now 29 weeks).

Good luck.

Hi Faby, well done in standing your ground at the hospital, we had a high risk result with our DD and felt under huge pressure to have the amnio done. We went ahead with the testing and all was well.
I had argued the due date the hospital gave me as they put me back by 2 weeks.My DD arrived 3 1/2 weeks early weighing 9lb 5oz! My MW agreed that my dates were wrong possibly causing the high risk result, as i was 23 at the time. I am 17 weeks pg at the mo and have declined the offer of the blood test for this pg. Good luck try to think positive, whatever may happen enjoy everyday of your pg, and look forward to that bundle of joy!

Hello everyone

When I went to see the consultant last week she said that I should be able to draw a line under this high risk thing without the amnio and I didn't believe her. She was right, I have been able to move on. Reading other experiences has been a great help and really my risk is not that high; i mean I wouldn't make a bet with those odds. So I can honestly say what will be will be. I have a feeling that the MW could have handled this a bit better and perhaps I wuold not have panicked quite ao much.

I had my fetal heart scan yesterday and the heart was perfect so that was encouraging news, i was asked again if i wanted an amnio said no.

How did everyone else get on making their decisions?

That's good to hear faby, I wonder what fluffyfurry decided to do?

Faby

Great news, what a relief, enjoy the rest of your pregnancy

Cameroonmama

I am due my second scan on Tuesday and at the moment I still do not want to go for an amnio. I am very worried but time will tell.

Fluffy, I will keep my fingers crossed for Tuesday, try not to worry too much, easier said than done I know.

I still have odd moments of complete panic but we have decided to put the house on the market and buy another so this is keeping me occupied, an extreme measure I know

Do let us know how you get on, on Tuesday.

I wouldn't have an amnio based on a blood test result unless it was the best blood test currently available (and possibly not even then). They vary a lot and as others have said the triple test is far from the most accurate.

I had a wider set of blood tests at 11 and 15 weeks (two sets) plus a nuchal - those combined had then the best accuracy (lowest false positive rate etc.). They came back with a roughly 1 in 1500 risk - end of story as far as I was concerned, not enough to make me want an amnio.

However... four weeks later (nearly 20 weeks pregnant!) I got a call from a midwife at my local hospital saying my triple test (which I had explicitly DECLINED to have when they took my later routine bloods) had come back with a 1 in 50 risk and so they'd booked me an amnio for the next morning.

Leaving aside the fact that they should probably really not have told me the result of the triple test at all given that I'd declined it, that's just one example of what a big difference more accurate blood tests can make. OK, so 1 in 50 of women with my triple test results on average go on to have babies with DS - but the number of women who go on to have babies with DS with my fuller blood test results and nuchal results is only 1 in 1500. (Of course you'd get examples the other way, where the more accurate tests might show a greater risk.)

I was stunned that they told me the triple test result at all, and amazed that they pushed the amnio at all given that I'd clearly declined the test (when I phoned back to say we didn't want it because we'd had better tests, I really had to argue hard!).

Fluffy, I will be thinking about you on Tuesday, having an amnio is such a horrible decision to mak, in my opinion.

Good luck and let us know how you get on x