1/49 on triple test and terrified

[Mainer]

I'm new to Mumsnet, though after the last weekend, I don't feel new. It's already been so helpful as we've agonised over decisions the last few days and shed far too many tears than is good. My husband finally suggested I add my own thread and see if anyone had some positive words.

My blood screening test (triple) came back high risk; I am only just 35. Hadn't had Nuchal earlier on, not offered where I am. I found out today that odds are 1/49 (of having a child with Downs Syndrome) which sounds frighteningly high to me. We've weighed the 2% rish of Downs with 1% risk of amnio miscarriage and I decided I couldn't risk the amnio. So we're now facing a twenty weeks' wait. Any advice or helpful words?? I'm terrified, can't stop crying and am not entirely sure how I'll handle going back to work tomorrow. Thanks so very much for any help/hope offered.

H mainer,

I'm sorry you are going through this, i had this with my forst child, i got told i had 1/9 chances of having downs.

I had the amnio ( it resally wasnt that bad) and they were so careful did a scan whilst doing it. and thankfully all was fine

I hope that helps knowing i had such a low number but still everything was ok.

Could you not have a private nuchal scan?

How many weeks are you now?

You could pay for a private marker scan which looks for any soft markers for Down's other problems. Thing is if you have decided against Amnio it might cause more worry than anything else to be honest. Lots of babies have markers but don't have problems at all.

If you've decided against an amnio and are too late for a nuchal then I guess you will have to just wait it out til the baby is born. This is what many of us choose to do. I know it's hard but try not to worry and be happy with your decision. You will love the baby no matter what and 1 in 49 isn't that bad, based purely on bloods, which are not that great in terms of accuracy alone.

Again - talk to ARC (Ante-natal results and choices) who will give you lots of info on the implications of testing. (I don't know web address but they are on the internet and you can e mail or phone in the day for advice.)

Keep your chin up.

Are you due a 20 week scan? As fifitot says this could flag up markers for Downs syndrome - not conclusive, but if they're not there that could give you some peace of mind. I'm sorry you're feeling so worried about this, but remember 1/49 means about a 98% chance of a baby without Downs syndrome, which is about the odds I was given just for being pregnant at 40! Good luck

Others have posted good suggestions re 20wk scan perhaps showing 'markers'. I think also previous posts on here have said it is possible to find out your own hospital/consultant's statistics for amnio, ie at some hospitals it is lower than the 2% usually quoted. I don't know how you go about finding these out, but perhaps just ask your hospital? If they are low, and if you want certainty, you might feel more confident. As it is, you have 48 chances in 49 of all being fine.

Otherwise - and perhaps you've already done this - perhaps if you find out more about Downs you'll feel prepared for that 1/49 chance and what it might entail (eg Down Syndrome Scotland support for new parents). I work with a lady whose third child has DS, and he is the light of her whole family - her main concern was that he did have heart problems when he was born, but he was fine after early operations and is now 11yrs old. I get the impression that he is the joy of her life and I know that she wouldn't change anything. But equally I know it is a huge shock to have to consider at this time in pregnancy...

I hope all goes well for you, and that you can find a sense of peace to take you through the weeks ahead.

Was pregnant with DS4 when I was almost 41. Was given a 1/108 chance of him being Downs. The big problem was I knew exactly when I conceived but the scans said I was 4 weeks behind what I KNEW I was. So when I KNEW I was 20 weeks pregnant they did the amnio thinking I was 16 weeks.

The amnio is not painful it is just weird IYKWIM - its kind of unnatural - I then had to wait for 4 weeks to know the verdict. Of course by then I was 24 weeks.

DS4 is now almost 13 he is as bright as a button and coasts through high school.

I think I know exactly how you are feeling - it is such a shock when they give out statistics and numbers. Keep posting on MN - there are always many women who have 'walked a mile in your shoes.'

Hey... think of it the other way around... If a racehorse started at 49:1 you'd be thinking there's no way it's going to win! 49 to 1... sounds high but really it's still a remote possibility.

Also... 1% risk of m/c with amnio is an average. You can research this. My Gynaecologist was a guy called Yunus Tayob (London & South East area - works in NHS and privately). His m/c rate with amnio is more or less zero.

good post fortyplus x

I was 1/60 at 35 and had an amnio. DD is 12 now and just like shabbapinkfrog ds

Hi, I agree with fortyplus. working out the odds was all that kept me sane! I was given a 1/25 chance of Downs Syndrome and a 1/8 chance of Edwards Syndrome. I had a CVS test and thankfully the results came back fine for both. DD is now a VERY sparky 2 year old. I also had odds of 1/175 of Downs Syndrome with my first pregnancy and DS is a 5 year old Star Wars obsessed little chap without Downs.
Interestingly my Nuchal fold scan was fine for DD, it was my blood results that made my chances so high. The midwife that was with me during my CVS test said that they had many women who just have 'dodgy blood' and would have a high risk result whatever was going on.
I am so sorry that you are going through this, I remember all too well the pain, and the concerns for my baby's future. The odds appear frightening but are very much in your favour. I wish you all the very best x

Oh Mainer. So sorry you are having to deal with this.

Does thinking of it this way help: there is a 98% chance of yr baby not having Down's syndrome.

I assume you have decided against an amnio because you also would not terminate? Is it worth reading up on Down's to allay some of your worries? There are lots of posters on MN whose children have it and they have lots of positive stories.

That said, the massive massive likelihood is that your child will not have DS. I know it seems like a grim 20 weeks, but please try to focus on the positive.

And come and talk here whenever you want - I know it can help so much.

When we were told at 13 weeks that we had a 1 in 18 risk it was a real shock, and a part of me was convinved that the results would be positive, no matter how much I tried to rationalise it.

My heart goes out to you. I remember how awful I felt, from the moment they called to say there might be a problem until we got the all clear. Although the chance was 'only' 1 in 18, I felt very pessimistic about it and it was an awful time. However, in reality these odds are massively in your favour. Do try to hang on to the positive, the chances are everything is OK.

I know it all suddenly seems to become a game of maths - but here are some more figures just in case it helps. A 1 in 49 chance is actually the same things as less than a 2% chance. Or put another way you have a 98% chance of everything being OK.

A friend recommeded the organisation ARC (Antenatal Results and Choices) to me. Actually in the end I never used them because I only learnt about it the day before my results came through, but they're meant to be good, and you can call them for advice about anything to do with antenatal tests.

www.arc-uk.org
020 7631 0280

Good luck, I hope it all works out OK.

Agree about soft marker scan - may provide some reassurance (although of course also may provide more confusion).

Also maybe pop along to the special needs section to have a chat to some mum's with children with DS? Lots of positive stories there- not nearly so scary if the 'worst case' doesn't seem so bad maybe? There's also the DSA- the Down Syndrome Association - they would be able to help as well.

As others have said the odds are still that your child will be born without DS. It's just you have an absolute number. For comparison your current risk of having a baby with autism is 1 in 100 - maybe even as high as 1 in 70 if it's a boy- (that's the background risk) but it's probably not something you've even thought about because it's not a figure that's been given to you iyswim.

Hi Mainer
I am not sure how much help I can be, except to say that I understand, and that in itself can be a comfort. I am currently waiting to get the results from my amnio and it is total agony.

I have been given a 1 in 30 chance after a nuchal scan with bloods and agonised over whether to have a CVS or amnio. I actually went for the CVS and signed the consent forms and then waited in the waiting room but then chickened out at the last minute. The hospital (which was not my local one as they don't do CVS's) quoted their MC rate as 2% which I decided was too big a risk. So then I waited 3 more weeks which was like forever and had an amnio at my local hospital. They had told me that they had not had any miscarriages as a result of an amnio in the last 2 years so that reassured me a lot.

That was 2 weeks ago and I am STILL waiting (long story but they couldnt do a quick test and I am having to have a full karotype) so I do understand how awful it is waiting and waiting.

The only practical advice I wanted to offer was that you should ask your hospital what the MC rate is for them specifically and I am sure they will tell you as they did at both hospitals I went to. I think they have to. But ultimately I suppose as another poster has said, it all depends on what your decision would be if the outcome was not favourable. If you would continue with the pregnancy whatever the result it is not worth risking the amnio. I might be wrong, but I don't think the 20 week scan would necessarily pick up issues such as Downs not unless there were physical problems as well.

When you think about the statistics for all the things that can go wrong in pregnancy it would frighten the life out of you and 1 in 49 isn't that bad. It's 98% likely that everything will be OK.

Anyway, I just wanted to offer my support, I am fairly new to mumsnet too and it has been so helpful to read about other people's experiences. Hopefully I will have some good news in the next few days, and everything will turn out well for you too.
xxx

I am overwhelmed by the number of responses and by the kindness and support each and every one offers. I really cannot thank you all enough. My faith in humanity (womankind especially?!) has increased many fold.

Firstly, Nutella43, I am thinking of you now as you wait. The waiting is certainly worst. I am hugely hopeful for both of us, and anyone else in this position, that all will be well.

Thanks so much for practical advice from all. I think it's too late for Nuchal scan (and I understand they're not very accurate either). My 20 week scan is next week. My hospital don't look for soft markers at this scan and say few hospitals now do-- not sure I believe this, but also know soft markers are not very reliable indication either. It should, as some of you suggested, pick up serious heart defects.

I asked my NHS hospital what their own amnio miscarriage rate was and they say it's the same as the national average, 1%. We would not terminate our baby, so I'd find it very hard to face that risk. We could look at amnios done privately, and after all your messages, I may do that. Depends how much the uncertainty and anxiety gnaws at me in days ahead, I guess.

I have been reading up about Downs and, having taught Special Needs, I have some limited insight into learning disabilities generally. I know I would love any child more than life itself. What I fear most in all the world is having to watch my child suffer either physically or emotionally and worrying about what it's longterm future will be (after we're no longer able to care for him/her).

I am trying, trying, trying to focus on the positives and consider myself lucky in the numbers but also in being forewarned in the event my DS/DD is the one.

Most of all, again, I am just grateful for all your voices. Nutella43, my thoughts are with you.

Obviously there can be physical issues with DS, but I'm not sure a child with DS is any more likely to suffer emotionally than any other child. I think that's a risk for any child really. My son has LD's and really his SLD school and respite centre are some of the happiest places I have the luck to go into. I always come out of both places feeling very happy.

Long term future is a bigger thing of course - but times are changing and for most people with DS the likelihood is that they will achieve semi-independent living arrangements as usually learning difficulties are moderate rather than severe. Of course there's a huge range, with some having SLD's and the very occasional prodigy - in any terms.

Forewarned certainly makes sense - most hospitals don't do the high level scanning, but some can - and if that would be helpful for you I would push for it. Many prefer to just push you into a CVS or amnio, but if you don't want that there is no reason why you should be denied screening alternatives. In your situation I certainly wouldn't have an amnio or CVS but I might be quite keen on a more detailed scan - just for some preparation and further information. Of course it can raise more questions so I can understand why you wouldn't necessarily go down that route. Will they do a specialist heart scan?

There is a poster who posts occasionally on SN who found out her baby was v likely to have DS whilst she was pregnant via scans (she refused other testing)- you could put a shout out for her.

Good luck-

Hospitals don't do soft marker scans usually you are right but you can pay to have one done privately.

Also nuchal scans alone have limited usefulness in detecting Downs or other genetic issues but combined with bloods, come up at around 70% accuracy, with nasal bone and if done to FMF standards, you are up to 90% accuracy.

So they are really useful but since you are out of time now suppose that doesn't really help.

Anyway FWIW I rejected any further testing after my nuchal screen and at the end of the day I went on instinct and what felt right for me. Once I made that decision felt much happier. Hopefully once you come to terms with your final decision you too will feel more comfortable with it and stop worrying about the outcome of your pregnancy.

You know, you can't legislate for everything in pregnancy, alot of it is unknown.

Good luck.

BTW blood tests alone are not very accurate either. So try not to worry too much.

Mainer, we had our Nuchal Scan a week ago and were given odds of 1/11 for Down Syndrome and 1/42 for Edwards Syndrome. I was reeling and desperately upset for a few days but feel absolutely fine about it now. Even though the odds are high, there is still a 90% chance that there is nothing to worry about.

"I have been reading up about Downs and, having taught Special Needs, I have some limited insight into learning disabilities generally. I know I would love any child more than life itself. What I fear most in all the world is having to watch my child suffer either physically or emotionally and worrying about what it's longterm future will be (after we're no longer able to care for him/her)."
We felt exactly the same as you- really, I could have written that myself (haven't taught but have volunteered with adults with learning difficulties) and I know what a worrying time this is for you. I was dead set against an amnio but my attitude softened when the screening midwife told me that their mc rate was less than a % and they hadn't had a single one in 18 months since they changed the antiseptic they use. I decided it would be an option if the 'not knowing' was causing me so much distress that I wasn't able to function/ look after DS. As I said, a week later I feel much better about the whole thing and am no longer so desperate to know. We have a scan next week (at 16 weeks) to look at the heart etc (which is, I suppose,my biggest worry) so if more things are uncovered and I find myself desperate to know we may go for the amnio.

We have also decided that, if scans etc. continue to show soft markers, we will take the late amnio that has been offered. This would be done at 34 weeks where the risk is early labour rather than miscarriage. I think it's good to be able to prepare yourself a little bit ahead of time.

Do try ARC, I haven't got round to ringing them myself yet (mainly because my 2 sisters are docs so I have my own personal helplines!) but I've heard they're fantastic.

I know this is a horrible, worrying time for you both. Take care of yourself (I didn't eat properly for days, not a good idea when pg) and I'm sure you'll be feeling much more positive soon.

Wishing you the best of luck

1 in 49 is really not that terrible,I had 1 in 160 for DD2 I think,(after 1 in 50,000 for my first baby two years earlier)and my best friend had 1 in 250 but she was very young to have that high a reading.Neither of us had a Downs baby.I also didn't have an amnio.My consultant acually advised against it when I said that I wouldn't terminate for downs.He felt the miscarriage risk wasn't worth it,and so did I.
Only you can make the choice as to how you would proceed in the extremely unlikely situation of your baby having downs,but if you are even considering keeping the baby whatever then I feel an amnio a big chance to take.Pay or ask for another scan as detailed as possible;if you feel it might help,but it may just worry you more.You have a 49 to one chance of a baby without downs and it is very unlikely your baby has it,but also,is downs really so terrible? All we want as mothers is for our children to be happy,and have fulfilled lives,that is no less possible with Downs than for any other child.

I didn't want to dismiss your fears by the way,obviously we all want healthy babies,I do really understand you being worried,just that in the scheme of things there are far worse things than downs and yet it is presented as this dreadful thing.

"You know, you can't legislate for everything in pregnancy, a lot of it is unknown."

That is very very true fifitot. Also for your child's life all round.

Maybe that's just as well. I think what hellymelly says is true as well.

Down's syndrome is something for which there is a test - so we often get in a flap about it. While worries are understandable, there are many worse things for a child than to have Down's syndrome.

I'm sorry, that wasn't a very elegantly expressed post - I hope no-one is offended.

Hi Mainer, read your thread and it has touched me so much that I have come out of the murky background and registered!!

As all of the others have said that there is a really good chance that your dc will be fine. I worry that you are going to miss the wonderful second half of your pregnancy stressing yourself out.

My ds1 has got downs syndrome and this was diagnosed after birth. It was a horrendous shock. I was literally on the floor. He is 6 now and it sounds so corny but is the light of our lives. I am NOT judging you at all for your feelings at the moment, i am simply trying to let you know that if your worst fears come true that life will continue and with time regain normality (what ever that is).

We have a happy little crazy family with ds2 who is 5 and dd1 who is 6 months. I did have CVS's for both of these pregnancies, as we 'just needed to know'.

It would be so sad for you to look back on this pregnancy and regret the stress and difficulty, when hopefully everything will as often does turn out to be a false alarm. And if the worst does happen I simply want you to know that this can still have a lovely positive end.

Big kiss.x

I had amnios with both pregnancies and only started to enjoy them once I received the "all clear".

If this is what it takes to put your mind at ease for the rest of your pregnancy, go for the amnio. That 1% risk is from a study in 1970s. Today's figure is much smaller, because ultrasound scans are routinely used during amniocenteses to determine the position of the fetus. If you search my posts on this topic, you will come across a study that talks about this and gives the recent figures.

Good luck whatever you decide to do.

Lovely post, JustOneMorePlease. I need to hear this kind of thing too so thank you!
The miscarriage risk is due to infection rather than the needle causing any damage- as I mentioned above, my hospital hasn't had any amnios result in mc since they started using a new antiseptic that penetrates the skin. It's worth asking about if you are finding it difficult not knowing, Mainer.
Also, looking back through the posts it looks like you haven't been offered a late amnio, is that so?
Hope the return to work wasn't too hard today. I struggled the first couple of days back last week.