Hello, I'm 24 weeks pregnant with my first baby (after a miscarriage last year). At my nuchal scan (at Kings in London) at 13 weeks my baby's nose bone wasn't visible, so my Downs figures are 1:130. All other soft markers were normal and so were the bloods; age was a factor as I am 36. I declined a CVS as I knew I wanted to continue the pregnancy although havent ruled out the possibility of a late amnio just to be as prepared as possible.
At my 20 week scan the nose was there (hurrah) but JUST within the range of normal. I understand that my ethnicity may well play a part in a small nose. My downs risk remained at 1:130 but would have been revised to a higher probability of downs had the nose been .2mm smaller.
I was just wondering whether anyone else had had a similar experience of the nasal bone being the only marker, and how things worked out for you? I know a lot of hospitals don't even factor it in, but King's do as they pretty much invented the test. Like I say, it doesn't affect my continuation of the pregnancy but I would find it really helpful to hear other experiences.
Hi, I noticed you hadn't had any responses so thought I would reply as no one has yet. Hopefully someone will be along soon with some experience of this.
I've not heard of nasal bone being the only marker so unfortunately I can't help you. All I can say is get as much medical advice and scans as you can. Pester people if necessary. Can you speak to someone at Kings for more information / advice? Best of luck.
Hi, thank you very much for replying - it is much appreciated. Kings have been helpful so far but i gather there's not much more they can do apart from offer the amnio if I want to be sure. What I find confusing is that I know that St George's don't factor in the nasal bone at all (friend of a friend is a sonographer there) and neither do St Helier (sonographer I had a kidney scan with told me this) so it seems to be only Kings, at least of hospitals around me. That being the case, I don't really get why it skews my results so much but other women aren't even being tested for it. Either it is an indicator or it isnt! The worry for me is that nobody seems to know what percentage of small/absent nasal bones go on to be "normal"; Kings only knew the figures the other way round, ie 75% of Downs babies have no nasal bone at the 12-13 week scan. I don't know whether my 1:130 risk is the "real" risk or whether it works more as an engineering of the numbers to bring those with no nasal bone under the 1:150 threshold to be tested further.
If I have an amnio it'll be at a safe point well beyond viability, as the 1:100 miscarriage risk doesn't stack up well against the 1:130 Down's risk, so I have a few more weeks of wondering to go I think!
I have not heard either of the nasal bone being the only marker, we had 3 markers found at our 21 week scan and are now seeing the consultant for follow up scans every 4 weeks the only marker we have been left with is short femur, (but im only 5" do may be this is why) Anyway im rambling... When our consultant was checking for the nasal bone, she also measured the distance of the bridge of the nose too, as she said very often babies with DS have a wider bridge than tjose without DS. Ours was within normal range.
We where pushed at 22 weeks into an amnio but refused cos the risk we felt was too high.
Maybe ask yourself the same question we asked purselves..... if you had the amnio snd it came back positive for downs, would you terminate? If the answer to this is No, then why put baby at risk,
For us, we have the niggle at the back of our heads but its not our daily thought any more, im now week 29, so only 11+\- more weeks left,
Hi Alison, thank you for your post. I am changing my mind about the late amnio - originally I was certain I was going to do it but I gather that it won't make any difference in terms of having the right doctors around at birth as the paediatricians will be on hand anyway, and I don't want to take a risk simply for, as you say, that little niggle of uncertainty.I'd rather take what i get, especially given that as the pregnancy has progressed both my husband and I have increasingly bonded with the baby and cannot wait to meet him. Whether he has Downs or not, he'll still be a tiny boy who needs his mum and dad. I've also had a pretty horrid pregnancy (loads of sickness, high blood pressure requiring tons of medication, severe back/hip pain and now gestational diabetes) and don't want to put myself and the baby through another procedure unless there is a medical reason for it.
I looked at my 20 (well 22) week scan again the other day and the notes at the end say that there are no markers for chromosomal abnormality although as I say my risk wasn't reduced downwards from 1:130, but the fact that nothing else was found does suggest to me that I'm in the 129. Not that it matters either way as i'm having the baby anyway. I hadn't heard of the bridge of the nose being measured - that's interesting.
I'm 30 weeks today so it looks like our babies will be born at roughly the same time - I'm expecting mine to come a bit early because of either or both of the gestational diabetes or high blood pressure. Wishing you all the best for the rest of your pregnancy x
I really would try not to worry, I know that is easier said than done, however there is a fairly large number of soft markers/normal variants that can indicate Downs, however these also appear in babies who don't have Downs. If all that was found was 1 variant that could be linked to your own ethnicity If all the other makers came back as normal on your 20 week scan i would be inclined to think your baby won't be born with downs, Will you have another scan?? It may be worth asking for 1, but I really would avoid having the amino, From how you speak you are similar to me and would feel so guilty if you had the amino and something awful happened afterwards, Whatever happens as you say our little boys will be loved and cherished regardless!
I read this article a couple of weeks ago, and was so inspired by this young girls outlook, it really made me smile and think very positively about everything! http://www.dailymail.co.uk/femail/article-2204451/Britains-youngest-mother-Downs-Syndrome-child-proves-doubters-wrong.html
Btw when is your due day? I'm December 18, and can't wait!!
I'm Dec 13th but as I've got gestational diabetes I may well be delivered a little earlier than that. As I've also had pregnancy-induced high blood pressure I've had extra growth scans scheduled and I had one recently and have another one at 32 weeks, and might need one at 36 weeks too. The last scan was very quick and was literally just looking at the head, tummy and leg measurements. The 32 week one might be slightly more involved as that's also to check whether my placenta is no longer low-lying.
As to the soft markers, I have one friend who has a little boy with down's and they had no markers whatsoever and their bloods were all fine, which just shows that these things are only ever indicative at best.
I read your post on another thread about your experience at your nuchal scan - how absolutely shocking. Really glad to hear that things are progressing well for your baby now.
Our bad experience was at the 20 week scan, we had actually opted out of the nucral scan and didn't have any bloods taken etc.. As they are only a risk factor and not a guarantee,
So this is why we where even more shocked and upset, we should never have been told about the risk of Downs at the 20wk.
We had basically told our MW at week 8 that we only wanted to know if signs of Edwards syndrome, or if another very serious life threatening condition where detected, on a scan. She had not written this on our records! Now I am under the consultant I feel happier. i also may have to be induced earlier but I really hope I won't. (But I don't want to go over either so we have agreed to induce at week 39/40)
If I have any further babies (which may well not transpire given age and how Ive found this pregnancy) I am going to seriously think about whether to have the scanning for Downs. I'd have Edwards / Patau, and the scans for abnormalities such as heart problems etc to monitor the baby's health, but as I'd continue a Down's pregnancy in any event i'm not sure that the scanning is helping me.
OP, there is now a blood test available that can test fetal genetics in your blood. It's pretty new here in the States, (my insurance was confused so we couldn't get it) but it may be available to you. I wanted it because it can give you similar results to an amnio without the risk of miscarriage. I'm not sure it's as accurate, but it's much better than the current blood screens, which just give probabilities.
My sonographer told us that the markers were not just the nasal bone, but the back of the head and long bones. I'm 41 with my first child (due in Dec too!) and the risk numbers changed a lot during the beginning of my pregnancy.
Thanks monsterchild - the test I had here was a combined test of bloods, scan and background factors such as maternal age; sounds like yours is more advanced if it goes beyond probabilities. My scan was at Kings who pioneer research into such things so hopefully they'll be introducing any new more accurate blood test before long.
Re the soft markers, I was told that the fluid at the back of the neck was the most indicative marker. My measurements for that were fine. In fact the sonographer first thought that my bloods, if good enough, would take me out of the "high risk" category, but then she realised that this was because she thought I was much younger than 36. So, every cloud, etc...
I was 36 when I fell pregnant with DS. My DS's nasal bone wasn't seen at my 13 week scan and my risk was assessed as something like 1:33, and at 16 weeks I had another scan, where his nasal bone was just visible at the lower end of the 'normal' length. I had amnio to find out for sure, and he was absolutely fine. Good luck.
Thank you todaysagoodday and wingdefence for your posts - it is really helpful to hear other people's experiences. It's weird for me to think that the nasal bone has been such a source of worry to me, yet if I lived somewhere else in the country I wouldn't even have known about it!
Secondsop I had a very similar experience to yours. The nasal bone wasn't visible at 11+5. However, the sonographer said it was probably because the scan was slightly earlier than usual and therefore didn't factor it into my overall risk, which was low for a 36yo (you can find it on a thread I started at the time). Everything was normal at 20 weeks, and my DS is two months old today with no discernible abnormalities.
I hope this is reassuring. The lack of a nasal bone is a new marker for Down's and I think it is causing women a lot of anxiety. If that and all else was fine at 20 weeks I don't think you need to worry. But I know how hard that can be.