1:153 risk of downs...

[nearlymumofone]

Hi,

I posted the other day saying I was worried about the nuchal fold results at my 12 week scan which was 2.9mm.

I have just found out that my changes of downs is 1:153. The cut off for high risk is 150. So she said it's technically low risk. She said for my age (34) it would be 1:386 (which seemed quite a high risk to me anyway!

I don't even know how to feel. Ds came back 2 years ago as 1:11000, so this seems so high risk to me.

I don't even know what to think.

Any thoughts?

hello, so easy to say don't panic, I can only tell you about my experiences. I started having children quite young and the first 2 seemed to be very very low risk, the 3rd however was higher risk and I was only 23 at the time. You know somethings up when the sonographer steps out the room! My exDH was not very supportive so that didn't help. We were referred for a more detailed scan in London a couple of weeks later. They thought that although rasied nuchal measurement, that all signs were good and chances although for my age were higher than usual the chances overall were quite positive for healthy baby. She said we could go back at 16 weeks for a more in depth scan or wait until 20 weeks. We thought all looked good so waited for 20 weeks. At 20 weeks they add the nuchal measurment to other pointers, which they found, a shadow on his heart. This then made the risk quite high indeed. By 20 weeks it was really difficult as you are so attached to your baby. My exDH being rubbishly unsupportive pushed me to have an amnio, which then gives a 1:100 risk of misscarrying. Not to mention watching the needle go in and hoping the baby doesn't move a muscle. All came back ok and i didn't miscarry. He was born 10 days late (which Ive always wondered whether they did the meauremnet too early, as never believed the EDD anyway). He's Nearly 9 now and it perfectly healthy. I had 2 children since and my youngest is only 5mo. His ratio was something amazing like 1:24000 and I'm 32 now so I don't know if it's just a whole lot of scar mungering. Of course if there are other indicators then maybe you should be more worried. Is there a family history? If you are concerned you can ask for a referal and further tests. But be sure the EDD is right as there is a very small window this can be done to get an acurate result. Good luck.

Hi, I posted on your other thread the other day.

DD1 risk was something like 1:22,000 (I was 30)
DS2 risk was 1:3 (I was 32)

Both are fine. Thinking about it will drive you mad.

If you would terminate for Downs then think about an amnio. If you would carry on regardless then there is no point in worrying.

At 1:153 just below cut off I would probably have paid for a detailed private scan at the FMC in London with Professor Nic.

All the best xx

With Ds1 I was given an 1:34. with ds2 1:4, neither have downs .With both i had a detailed scan, which on ds2 showed other markers, so we had an amnio to ensure we would be fully prepared for whatever he brought- it came back clear. I was 34 with ds1 and 36 with ds2. It is a case of knowing too much I think, but we just knew we would keep the baby whatever, so tried to carry on as normal.

All the best with your pregnancy

I had a risk of 1 in 92 for DS3. Tbh, I saw that as a 91 in 92 chance that the baby would be fine. As DH and I decided we wouldn't have an abortion even if the baby had Downs, we didn't have an amnio. We had a detailed scan at 32/40 which was ok and when he was born, ds3 was fine. An acquaintance I know was low risk and her baby did have Downs. It's all statistics and damned statistics, so I would sit down with your DP, decide what you want to do and go from there. Whatever you decide, try not to worry (ha, easier said than done) as that's not going to change anything.

Hi nearly

I was just wondering what tests your previous risk was based on? Mine on Nuchal alone was something like 1:15,000 so I was shocked this time to get 1:75...

If I've done my maths right, your % chance of a chromosomal abnormality is 0.6%. So, a 99.4% chance that your baby does not have any abnormalities. The risk of miscarriage with amnio / CVS is 0.5 - 1%. I think you seriously have to consider and balance if the risk of miscarriage with an invasive diagnostic test, and the worry, is worth it when you are techinically low risk. A detailed scan might give you the reassurance you need, although I would ask if one can be done with your NHS trust if you are considering amnio - I looked at going to Prof Nicolaides (and I would LOVE to meet him and learn from him) but couldn't afford the fees involved.

I'm sorry if I'm not making sense, its really late and I've just finished three horrible twilight shifts so got brain jumble LOL!

This discrepancy in what is regarded as 'low' and 'high' risk really annoys me, as it seems to completely vary on where you have the test done. I was given 1 in 91 chance for downs due to nuchal of 2.3 (told the cut off was 2.5!) bad bloods, and a soft marker on the heart.
I opted to have a CVS, so went to the fetal medical centre in london. They rescanned and told me my revised risk was 1 in 219, but their cut off for high risk was 1 in 300 so I was advised to go ahead with the CVS.
I did, and it was all clear.
I think the advice that has been posted is good - you need to weigh up the risk of CVS and Amnio (I think the risk vastly varies on where you have it done - the experience of the person doing it). Personally I didn't know what I would 'do' with the information, but I knew that I couldn't go through the rest of the pregnancy not knowing - if I was going to have a downs baby, I wanted to know and therefore do lots of research etc. But that's a very personal thing.

I can understand your concern, I would be worried if I'd got a result like that too. As it happened, the risks given to both my children clearly pointed me in one direction or the other in terms of invasive testing (DS1 1:8000-odd, DS2 1:15). I had a CVS with DS2 and got the all clear.

Incidentally, DS2's nuchal fold was 2.6mm and while some people get told the cut off is 2.5mm, I was told that at my hospital it was 3.5mm so noone batted an eyelid at that measurement in isolation. It was only when my bloods got added that the risk escalated so much.

In your shoes, I would probably get a second opinion or opt for a CVS/amnio, because I'm a 'need to know' person and I know a child with a degree of disability would not work well in my family. So it depends on you as a person and what you would do with the information.

I hope that's helped in some way.

Thank you so much for all your responses.

We don't intend to have any invasive procedures, I would be worried about the risk of miscarriage and to be honest I would continue the pregnancy either way.

I have never heard of the 'detailed scan' though- what is this? And I've never heard of professor Nic. At what point in the pregnancy do they do this to check for downs? I would consider a non-invasive procedure like this just to find out what's going on.

Also do you know if at the 20 week scan they can pick up any more information on whether the baby has downs? Is there anything they look for there?

Also... and this is a bit of a weird one! My boobs haven't been sore or got any bigger at all. When i was pregnant before my boobs took on a life of their own- I couldn't squish them into a 40G (I started of as a 32E). I'm just a bit concerned they should have grown by now and my body isn't working properly.

(Thanks for all your support, as you can tell I'm a real worrier!)

x

Professor Nic is Prof Kypros Nicolaides at the Fetal Medicine Centre on Harley St. He's the guru of prenatal testing. If you want the man himself, he only works at the FMC on Wednesdays.

At the FMC they can do a much more detailed scan to look for other markers of Down's syndrome (presence of nasal bone, tricuspid regurgitation, blood flow in ductus venosus, etc) at around 12 weeks.

You could wait until 20 weeks and have a detailed heart scan (many babies with Down's syndrome also have heart abnormalities that will show up on a scan).

Best of luck x

I was in pretty much exactly the same situation as you a year ago except I am a couple of years younger. Second child, v similar odds.

I went for a private "quad" test, detailed scan and more bloods and the scan was clear but bloods put my risk as 1:13 at which point we decided on an amnio as I felt I had to know for certain one way or the other. All was clear and DS is now almost six months old and does not have Downs Syndrome.

Just wanted to offer my support and story. Take care of yourself, absolute best of luck to you!

I had a detailed scanat 20 weeks at my local hospital, it looks for other markers for downs . I was then also referred for a detailed heart scan ( the babies not mine!) as an increased nuchal fold can indicate a heart defect. DS2 has a conginital heart defect ( mild) which was only picked up because of this scan. I would contact your mw or consultant as that is how we were reffered for the scan.

All the best. I became a bit of a tiger mother when pg with ds2 as I had so many antenatal appts for him and so many people recommending invasive procedures and termination, he is now a beautiful 4 yr old who I would still protect to the ends of the earth!!

BTW ds2's nuchal fold was 4.6mm at 12 weeks and all was ok.

Try to relax, your body is working fine

Fingers crossed all is fine, but these tests can often be really unhelpful and sometimes inaccurate! My best friend's son has DS. His nuchal fold and amnio (done for other reasons) were entirely normal, infact the risk of DS was 1:11000! Wishing you lots of luck for the rest of your pregnancy x

Thank you all again for your responses, they really are invaluable.

it's all I have thought about since the results but hopefully I'll become a bit chilled out in time x

I think being given an actual figure makes something unlikely seem more real iykwim. So you are worried about DS because of your results but in actual fact your current statistical risk of having a child with autism is higher (because 1 in 80 odd children are now diagnosed). I don't say that to worry you about ASD but just to demonstrate that our worries don't necessarily relate to our risks - I'm betting you haven't given autism a second thought.

The other thing that might help is getting in touch with one of the parent run DS support groups (someone linked to one on a recent thread) as it can help calm you - in that even if the minuscule risk happened you know it would be ok iykwim.

My severely disabled son had the 'best' results of any of his brother btw. Risks in the thousands. I don't know, I think they can often raise more questions than they answer.

I always think saying 'enjoy your pregnancy' sounds trite (and anyway I always loathed being pregnant personally) but if you know you woukd continue the pregnancy anyway then do try to take comfort in that whatever happens it will be fine.

saintly I appreciate what you are saying. But me personally I give autism a thought every day. DP's brother is autistic and so is my cousin so it's on my mind a lot.

But I agree, as you say there are so many other things that can be wrong with a baby other than DS that cannot be tested for but are as challenging for the parents to cope/live with. I have discussed this with DP who buries his head in teh sand about it as he has seen how his parents have struggled to cope with his brother.

Thanks for your advice. x

Oh well you can turn it round a little then. I worried about autism a lot with DS3 as knew his risk was about 1 in 10 (with the only autism in our family being severe, non verbal, with learning disabilies). So I figured there was no point worrying about/terminating for DS, when we could go on to have another child who tested 'normal' in everything but was actually more affected than a child with DS. Which I suppose is what happened with DS1 - where we focussed on DS as that was being tested for, while being completely blind as to what was actually happening.

I suppose in the end I came to see screens as giving a snapshot. We continued to do them as we would have wanted anencephaly in particular picked up - probably to terminate. But for everything else I just saw it as a bit of information. So we knew ds3 was pretty unlikely to have DS (although always a possibility) but also knew that we'd have to wait 18 months after birth for the answer to our real question.

Of course if you would terminate for DS/turners/trisomy13/18 then the point of a screen is somewhat different as it's the first step to getting the knowledge you need to make a decision. But if it's a case of living with the information throughout pregnancy with no further testing then I found putting it in the context of things we didn't know about and weren't going to find out about to be helpful.

Thank you for your perspective saintly. I hadn't really considered it like this.

Strangely I wasn't worried when I was pg with ds1 but now I worry because of how a brother/sister with disabilities would affect him.

I am really thinking now that there is such a variety of things that can be wrong with a baby that are not picked up through screening, and can be more difficult to cope with than downs, so I should just try to stop worrying and just get on with it.

How did you know you had a 1 in 10 chance of DS3 having autism? Am I right in thinking DS1 has it but DS 2&3 don't?

Oh that was just the figure we were given for a boy with a dxed brother. With something daft like 1 in 4 for some sort of language disorder., I'm not that convinced actually given ds1's severity and his regression - I'm not sure it's that highly heritable - although maybe the predisposition is. We did assume that ds3's risk was very high though compared to the background risk. I was pregnant with ds2 before we has ds1's dx, so his risk would have been the same, but we just didn't know.

Yes both are fine. I think a sibling with disabilities is, like most things, a mixed bag tbh. Yes there are some negative points but an awful lot of positive ones as well.

I was 41 when pg unexpectedly. I was at Kings in London (a bit of a leader in pre natal scanning etc...) and I was given a blood test along with scans and this led to my risk being evaluated as very low. I think this is the blood test. it was quite new at the time but it eased my mind a lot.

www.nhs.uk/Conditions/Downs-syndrome/Pages/Diagnosis.aspx

Just wanted to say downs isn't the only concern you know. Other chromosome issues can emerge too. We discovered our son had kleinfelters which is often missed (unless it's quite severe) until puberty or even until they try to have children, (affected men usually infertile). It's assoicated with some learning diffs, speech and language delay etc. Good for us to know as we can watch for early signs and get help early.

Can't remember now what exactly the numbers were. The nuchal fold was bad and the bloods were good. He had the nasal bone which they said was good. Think our risk was assessed as 1/150 or something when everything was factored together. I wanted to know so we went for an amnio. (I like to be prepared).

Good luck whatever you decide.