Think I need a bit of hand holding - combined test at 12+4 show odds of 1 in 65 of downs.

[AbiAbi]

Hi, I never realised this part of the site existed, but I am really glad it does!!

Had a call from the hospital MW today - we had the nuchal scan and blood test yesterday. Scan seemed fine at the time (Nuchal fold was 2.5mm, nose seemed present, brain fine, CRL 69mm) the sonographer was very pleased, but the blood tests have now given us odds of 1 in 65 of Downs.

Downs Syndrome isnt the end of the world for my partner or I. Our DS passed away in Dec from undiagnosed bowel problems so we know how lucky we are to be expecting another baby, and I just wanted it all to go smoothly so badly . I'm not scared of Downs, but I'm terrified that there will be a disorder meaning that the baby cant survive.

In my heart I know the odds are still pretty good - if there were 65 envelopes on a table 64 would have good news and only 1 would have bad, but still....

I am 25, this is my third baby, I have a 5yr old DD who is healthy and happy.

We are seeing a consultant tomorrow afternoon, and I was wondering if anyone has been through the same things and could give me an idea of what to expect? and what questions to ask? I want to ask them to scan us again and look at the nose bone etc first before we consider diagnostic testing - is that reasonable?

Sorry, this is a bit jumbled I know, sorry.

Thanks

Abi

You need to know how they calculated their odds. Did they combine the bloods, presence of nasal bone and nuchal fold to come up with the Fetal Medicine Foundation in London who pioneered the nuchal scan and got more accurate results. (Not saying your existing scan is bad btw, just that they are very up to date there in terms of research and methods.) If you can't go there then there are accredited centres around the country that use the same computer programme to calculate your odds. This may give you a more accurate assessment.

I am not sure they would scan you again on the NHS at this stage - they might or they may simply suggest an Amnio or wait until about 18 weeks for a soft marker scan.

You are well within your rights to ask for further info before they give you an amnio. IMO they are too quick to offer this - but that's just my view.

Maybe see what consultant says, then consider if you want a second opinion private scan. Read through some of the threads on here to see others' experiences.

Please let us know how you get on. (I'm on a bit of a mission with scans and testing due to my own recent experiences of it!)

Sorry part of my post disappeared. I meant to say you could consider another scan at the FMF, after finding out how they calculated your current one.

Thank you Fifi, thats really useful and I've made a note of it on my "Things To Ask" list.

The MW did mention going to London for further testing but I couldnt concentrate, so I'll ask them to clarify tomorrow.

I have such mixed feeling on an Amnio or CVS test that I cant even begin to comprehend it.

Thank you for replying,

Dear AbiAbi, I remember seeing your thread about your lost son before Christmas, and I'm so terribly sorry that you now have cause to worry about this pregnancy.

From my own experience, I don't think the hospital can get a good idea re anything 'fatal' in terms of heart etc at this stage, as the baby is still developing. My 13wk scan last year showed v obvious problems with the brain and kidneys of my baby, but I was told that they would only know about possible heart problems a few weeks later on (around 15wks?).

If your main cause for worry is that there might be serious, life threatening abnormalities, I think these would show up on a later scan. What I don't know (because I had CVS) is if you then have an amnio to confirm a diagnosis, how long you have to wait for results. As fifi says, if you can get to London and can pay for a private scan, the fetal medicine centre calculates odds taking into account amongst other things nasal bone and also heart development/arteries, I think at around 13/14wks. I think they do it on the cusp of when you can still get a cvs as well, so if any worries show up you could then get diagnostic confirmation.

The other thing to do is perhaps ask what the stats are for CVS at your own hospital. I think quoted stats are national, so your own hospital/consultant stats might be more (or less!) reassuring, if you want to know for sure. I had a cvs as already the prognosis for our baby was poor; it was uncomfortable but the consultant scaned us as she was doing the test to ensure the needle went in the right place - and the results do come back pretty quickly (eg 2-3 days). It might give you reassurance...

Really hoping things work out OK for you.

Oh - the other thing you might want to do before your consultant appointment is ring the charity Antenatal Results and Choices and see if they have any information or suggestions for what you should ask. They also offer support, which you and your other half might appreciate particularly given your recent troubles - this must be a pretty emotional time for you.

For what it's worth, my own hospital was absolutely great about giving me another scan a couple of weeks later, so that I could get more information on possible heart problems. It probably does depend on the hospital, but it's worth asking...

Thanks Numpty for replying.

Our hospital, Eastbourne District, are really good in general so I have a lot of faith in them, and I'm sure they'll be as helpful as possible with scan etc, it's just all so frightening.

I will call the helpline tomorrow, thanks for the recommendation,

Abi

Sorry that's come up under my other user name- I use AbiAbi to talk about my DS and Cluckyduck to talk about cake recipes And other inane stuff etc, my secrets out

That's why I never swap names... too much of a numpty to cope with more than one name!

So am I obviously ... I'll blame my hormones!

Hi AbiAbi, I have actually just gone through what you are now. I had my combined scan done at 13weeks6days and the nuchal measurement came out at 4.5mm which gave us a 1:86 chance of downs/tricomy. After reading up a bit online about the nuchal measurement we were really starting to panic. I was referred to a specialist who advised to get amnio done but that we wouldn't be able to until I was 16weeks so we spent 2 weeks thinking the worst, absolutely heartbroken. I had the amnio done on this Monday just gone, the procedure itself was nothing, I was surprised how easy and quickly (not to mention pain free, a flu shot to the arm hurts more than that) the doctor got the amnio fluid out. We paid the extra amount to get the results the next day and found out that we're in the clear, the baby is doing really well. I know it's frightening, but a good way to think of it (which is how the specialist explained it) is yes, you've been given the 1:65 chance of downs, but remember, there's still a 64:65 chance that the baby is okay. From what the obstetrician that I saw the other day, there are quite a few false positives. But hugs to you, I completely understand how you feel

Thanks Aussie that's a really reassuring post, thank you.

I'm just worried about what the consultant will say and what we'll have to do. Appointment is in three hours and it's draaaaaaaging!

In sort of similar situation just now and the calm, assured tone of your post touched me so much, I wanted to write just to offer some minimal support.

I'm at 25 weeks, but was told at about 17 weeks that we had a 1/49 chance of having a baby with DS, based only on double blood test. We feel the same as you; we can certainly cope with a baby with DS, but are worried about life-threatening health problems. The 20 week scan was entirely normal, which was very reassuring. I haven't had any further testing, scanning etc. What will be, will be, we've decided. Sitting it out is easy on some days, harder on others. We have additional scans to check growth at 28, 30, 32 etc weeks as my HcG levels were high and that is also associated with IUGR. Always so much to worry about. . .and DS is only one thing they happen to be able to test for. . . and a minor problem at that, I'd say.

I can't imagine, having suffered what you're already suffered, how difficult a time this must be for you. I am sending you very, very big bear hugs and thinking how very, very strong a person you must be. . .

I had blood results of 1:24 for DS at the age of 43. They booked me in for an amnio but I was really nervous about it. In the amnio room, with the consultant, she could see I was anxious and offered to run a detailed scan. It was a colour scanner and she looked particularly at the baby's heart. It was really fascinating, and after doing it she said that although she couldn't guarantee DD didn't have any other problems, her heart was normal and there were no other "soft markers".

I did end up having the amnio anyway, because DH was panicking, but the detailed scan is an option. We had been offered one at 20 weeks if I didn't want the amnio. This was NHS.

Hi, Sorry to leave this thread so long before coming back, I needed some time to get my thoughts together.

We saw a consultant at Eastbourne District hospital a day after getting the result, Dr Pascal, who was fantastic at explaining our options, and telling us exactly what the results meant for us. He was very reassuring, and very kind.

We have decided NOT to go for Amnio or CVS in the end, as the risks given to us for the risk of miscarriage were very high, and as we will be having in depth scanning through out the pregnancy due to Archie's condition I am fairly happy that anything awful would be picked up. I suppose I am burying my head in the sand somewhat too, I admit that. I just get fed up of feeling awful and sad all the time, and just want to focus on having as happy a pregnancy as possible, given the circumstances.

Thanks so much everyone for taking the time to read and reply to this, your support really was invaluable to me.

Well done for coming to the decision - that's the hardest bit I think. Once I had decided NOT to amnio I just relaxed and like you though there was little point in keep worrying about things. And as you say you will get regular scans which will help you.

You are not burying your head in the sand - you have made a brave decision. It's a difficult thing to go through.

Best wishes for the rest of your pregnancy.

Dear Abi - as Fifitot says, I think making the decision is the hardest part. It is really good that you will be able to get scans done throughout your pregnancy, I am sure they will help reassure you that all is well. I really hope you can relax more now, and that the hospital and those around you are a great support.

Wishing you, your OH and Archie all the best, xx.

(and your DD - sorry, forgot to add her to the list!)

I also had a high risk result, following a nuchal scan, a rubbish one mind you, didnt look at nasal bone or anything other than nuchal measurement, and a blood test. I havnt had any further testing, my 20 week scan went well, nothing showed up on there. And I also refused amnio and cvb, didnt want to risk it, and I just wanted to say that as my pregnancy progresses, I am relaxing more,I am of course aware that the baby may have some problems when he's born, but I also think that there are so many things that cant be tested for either, that what will be will be.
Wishing you all the best for the rest of your pregnancy.

Well done on making the decision. As others have already said so eloquently, that's the difficult part over with. I'm now almost 27 weeks, having declined the amnio back at 18 weeks despite 1:49 risk. I have a growth scan on June 14th and regular scans after that. 20 week scan was fine, so fingers crossed. As others have said, it is MUCH easier to relax and enjoy the pregnancy once that's what you've committed to.

So, Effilump and AbiAbi, we are in the waiting game all together. . . that's reassuring somehow. Wishing you all the best.

Thanks everyone for replying- the responses are so calm and reassuring, I really do appreciate it.

Yep, it's all a waiting game I guess, but it's nice not to be the only one! We have an obstetrician appointment on Monday and hopefully a scan, so might know some more then, hopefully will be uneventful