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Original poster

CVS today - nuchal scan yesterday, soft nasal bone, 1 in 96 chance of Downs Syndrome...

62 replies

LadyThompson · 21/05/2008 11:36

Had nuchal scan and bloods yesterday at the Fetal Medicine Centre - nuchal fold, heart and everything else perfect, and when I phoned my obs she said were it not for one thing I'd have walked out with 1 in 900 - BUT at 11 weeks 6 days, the nasal bone hasn't calcified, and this is a marker for DS, and brings me down to 1 in 96, which is apparently considered very high risk (though it still means 95 out of 96 babies with my results will be chromosomally usual!). My obstetrician has advised me to have a CVS, which I can have tonight. Obviously I am worried about this. IF there isn't a chromosomal abnormality, possibilities are: that it will just develop normally in the next week or two; or that my child maybe born without a nasal bone. My obs has delivered three babies like this, and they have reconstructive surgery and you can't tell there's been a prob by the time they go to school. Sorry to go on - anyone had any experience of any of these things? Any advice welcomed.

OP posts:
kitkat9 · 21/05/2008 15:26

Hi

didn't want your post to go unanswered...I have no experience of this myself but maybe by bumping this someone will come along who does.

It seems to me that considering the nuchal fold and heart are perfect, this must be a good sign that your baby will be fine.Will you be able to have more scans in the coming weeks to determine whether the bone has calcified?

As you point out - a one in 96 chance of downs isn't that high, if you think about it logically - it's just about a 1% chance! Try to focus on the positive. What would you do if you found out your baby did have DS? I'm just wondering - I'm 9 weeks pg myself and have been considering whether or not to have the tests this time as I'm 35 and I know the risks increase.

Scans these days pick up so much more than in the olden days, and suddenly there are all these potential problems that our own mothers would've known nothing about!

Scampmum · 21/05/2008 15:29

Ours was 1:80 owing to big nuchal fold and tricuspid regurgitation. We never considered CVS/amnio as to me DS was a far better result than MC, we wouldn't have terminated a baby with DS, and the odds of MC and DS were more or less the same. Four week old DD has no signs of DS! Hope that helps, best of luck whatever you decide to do.

Scampmum · 21/05/2008 15:31

Oh, and we were told the tricuspid regurgitation had a 1% chance of sorting itself out but there was no sign of it at the 20 week foetal ECG.

I must confess I was pretty nervous about the 20 week scan - if you don't go for the diagnostic test maybe take a day off work the day before or something? (I just cried and got sent home )

Original poster
LadyThompson · 21/05/2008 15:39

Kitkat9 - thanks so much, I am doing my nut in here. I am at work and the clinic have phoned me to say they are very delayed (sometimes they have to stay open until midnight to fit everyone in!) Basically, my obstetrician says that although 9 out of 10 things are excellent, a soft or non-existent nasal bone can be a strong marker of DS, which is why she advises me to have the CVS, which is an invasive test with a risk of miscarriage (they take a sample of the placenta with a needle). However, with CVS, they can completely rule out (or rule in!) chromosomal abnormalities - it is definitive.

It is worrying but I think having the nuchal fold scan and blood tests between 11 and 13 weeks is good, despite the worry - they can only do CVS up to about 13 or 14 weeks - otherwise you have to wait even longer and have an amnio.

What would I do if the baby has DS? Tough one. Apparently 92% opt for a termination. I might have tended that way myself, but after seeing the baby leaping about on the scan yesterday, now I am not so sure.

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Original poster
LadyThompson · 21/05/2008 15:44

Thanks also Scampmum - heartening story. There are so many worrying variables with nuchal scans, I think...anyway, I am going to go with the CVS, because the Prof who is doing it has a lower miscarriage rate than most, and at least I will KNOW, whatever I then decide to do with that information.

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clumsymum · 21/05/2008 15:51

Well, in your shoes I'd have CVS. I had one myself, but then I knew that if it came back positive I would have a termination, dh and I made that decision when planning pregnancy (I have physical disability myself).

I think you need to talk about what your plan is likely to be if test shows DS, before you elect to have to have the test. Surely that is relevant to making the decision to have the test at all.

LittleMyDancing · 21/05/2008 15:56

We had a very high risk factor at the nuchal scan (based on high nuchal fold measurement) and went for a CVS - we both felt that we weren't sure what we would do if the test came back showing Down's, or any other problem, but that we wanted to know what we were dealing with rather than worrying until the 20 week scan.

However - in our case the risk of there being a problem was something like 10%, and the risk of miscarriage 1% with a CVS. In your case, it sounds like the risk of Down's is about the same as that of a miscarriage from the CVS. Worth thinking about, maybe?

Sadly our baby turned out to have a serious heart defect in the end, but it sounds like your bloods and nuchal fold are good, so that's not the case for you.

Hope you find your way through this tough time ok.

kitkat9 · 21/05/2008 15:57

agree with clumsymum. I would have the test too. Isn't the risk of mc only increased by something like 0.8%? I may be wrong of course, but that's a minute increase. It's easy to focus on the negatives during pregnancy, and all these figures and percentages become so scary!

theheadgirl · 21/05/2008 16:04

Hi - just a perspective from someone whose LO does have DS. My blood test came back as 1 in 90, but due to a delay in the results I was then 19/20 weeks pregnant. I decided against amnio at this stage (it was too late for CVS) as I knew I couldn't terminate a baby who at 20weeks was moving and already had a name (earlier scan had confirmed a girl). I'm not sure knowing for sure would have helped me. The early days are filled with unfounded worries anyway. She is now 7 and beautiful and an important part of our family. I think the main thing to sort in your head is what you would do with the results? As a nurse I've met people who've regretted termination. As a parent of a child with Downs I've never met anyone who regretted having their child.

Original poster
LadyThompson · 21/05/2008 16:09

Trouble is, this clinic, which is supposed to be the best, only do the test on Wednesdays, and waiting until next Wednesday would put me at 13 weeks which isn't ideal for a CVS (so they tell me) - the earlier the better, as long as it is not before 11 weeks. I trust Prof Nicolaides to do a good job, and I am hoping it will be ok, though I keep thinking about that little mite I saw dancing around, standing up and waving yesterday.

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clumsymum · 21/05/2008 16:10

Then have the test.

You can decide what to do about results when you have them

mrslurkalot · 21/05/2008 16:11

Hi there, sorry you are going through this. I has a nuchal results of 1:50 for downs and 1:7 for Edwards syndrome and I remember clearly how upset I was and the range of emotions I went through before getting the CVS result. My results were clear and my daughter is 10 weeks old tomorrow. I was also high risk in my first pregnancy and had an amnio. I found it very helpful to think in terms of percentages so in your case you have a nearly 99% chance of having a baby WITHOUT downs syndrome. I also found ARC (arc-uk.org) very helpful, they are really are worth giving a bell just to talk through your results and get your head around them. Once again, I am so sorry you are going through this, take care and be kind to yourself xx

Original poster
LadyThompson · 21/05/2008 16:12

Thank you theheadgirl, I appreciate that. Trouble is, I don't KNOW yet what I would do with the results. However, I do know that DP would probably err towards wanting a termination (sorry, I really really don't want to offend you or your lovely little girl, that's just his opinion). I do think, though, that if I knew, things might clarify.

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mrslurkalot · 21/05/2008 16:17

By the way the CVS itself was fine, a bit wierd feeling but not painful, and the bonus is that you get to see your baby again!

Original poster
LadyThompson · 21/05/2008 16:17

Bless you MrsLurkalot, I think you are a tad better at maths than me...Yes, it IS horrible and worrying, but I also feel guilty and self-indulgent, because so many people have terrible things happen to them, or their babies die, and here's me driving myself potty about a one point something per cent risk of something which many people would not see as a problem anyway. Sorry. Maybe it's because it's my first, but the anxiety, and fear (of either choice) is turning me inside out. But again, that's probably parenthood per se!

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mrslurkalot · 21/05/2008 16:28

Don't feel guilty, this is your baby, the biggest thing that has ever happened to you and certainly the most life changing. I was shocked as I had just expected everything to be fine, then terrified that I would get a positive result for downs and have to make a decision one way or another. I still hadn't decided what to do when the hospital phoned with the results! I remember just wanting to go to sleep and wake up when I knew the result - the waiting to find out is horrible. I really feel for you. Something lovely though- when you get the result you can find out for certain whether you are having a girl or a boy (if you want to!)

kitkat9 · 21/05/2008 16:29

you're right, people deal with terrible situations every day, and there is truly always someone worse off than you. All easy to say, but this is YOUR situation, mand it's worrying for you, so don't feel guilty or self-indulgent. You wouldn't feel any different if it was your first or tenth pregnancy, btw.

Go tonight and get the test. Either way, it will put your mind at ease, and you'll know what you have to deal with.

Theheadgirl - your daughter is gorgeous. Your comment about never meeting anyone who regretted having their DS baby is beautiful. Thank you.

theheadgirl · 21/05/2008 16:29

I'm not offended, don't worry! It just helps to see all sides I think... and I am pro choice. But I think some people who terminate do so without a full idea of what life with a child with DS means. Ands thats not making a choice cos you don't have the full facts.
Anyway all the best to you whatever you choose.

Original poster
LadyThompson · 21/05/2008 16:32

Thank you everybody...really helpful. Well, I won't shrink from telling you what happens - whatever happens xxx

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Original poster
LadyThompson · 21/05/2008 17:26

PS (and I am still waiting to go to the clinic, the queue is 4 hours behind) - anyone who has had a CVS - did you have it abdominally, or cervically? I hear they can do both. Did you have pain afterwards? Tbh,though, I couldn't give a s* about the pain. I just want everything to be ok. I am so worried FOR THE BABY if there is something wrong, whatever that may be. Cos life is hard enough, isn't it, without a disability (of whatever kind). And once this CVS is finally done, how on earth will I get through to Friday, waiting for results? Sorry to go on. I am now obsessed!

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Turniphead1 · 21/05/2008 17:44

This reply has been withdrawn

This has been withdrawn by MNHQ at the poster's request.

Original poster
LadyThompson · 21/05/2008 17:51

Thanks turniphead...feeling massively confused. 25% of DS children show a nasal bone on the scan at my stage, 75% don't. My head is just spinning. I don't know whether the other markers for DS being absent is significant or not. But I guess I will know in 48 hours.

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clumsymum · 21/05/2008 18:30

LadyT, from what I remember of my CVS test (cervical) it felt a bit like period pains as they were going in thru the cervix, but not more than uncomfortable, and didn't feel anything once they were in.

No pain afterwards, I did go to bed, but I had been advised to rest for the remainder of the day.

LittleMyDancing · 21/05/2008 19:38

Just wanted to say good luck, LadyThompson, hope the CVS goes well and you get good results.

FWIW, I was told that with an experienced consultant, the risk of CVS is dramatically lower - the risk of 1% is just an average and includes those who aren't very good at it! And Prof Nicolaides is a good one, from what I hear.

Big hugs

angel1976 · 21/05/2008 20:35

Hi LadyThompson,

How did it go (if you have had it)? I had two CVS with my pregnancy as the first one failed as they couldn't get enough of the baby's cells and too much of mine (something called 'mosaicism' but it's very rare!) and I had the second one 5 days later. I had them through the abdomen and it was uncomfortable but not painful... It very much depends on how good your doctor is. The first one was more uncomfortable than the second one I had. Because the first one failed, they got a more experienced doctor to do the second one and she was in and out quick! I didn't bleed or anything but just rested the rest of the day.

My risk was 1:63 (due to high nuchal fold, the nasal bone was present) and my DS was born healthy (he's 3 months on Firday! :D). I hope it goes well for you!

Ax