Nasal bone absent at 11+5

(33 Posts)
Elpis Sat 02-Jun-12 11:17:55

I know this post may seem overwrought to mothers who have been given a much higher risk of Down's, but I can't push this out of my mind.

The tests put my risk at 1:4092 (even lower for the other trisonomies). Since I'm 36 we weren't worried about that. But the sonographer couldn't find a nasal bone. She said this was unlikely to be significant because I was less than 12 weeks and didn't recommend an extra scan.

At my 20-wk scan the nasal bone was present and 5.7mm long - I think the average is 6.2mm, so on the low side but still within normal range. Everything else was normal - a 'perfect little boy', said the sonographer. So why am I anxious? Because I saw that lack of a nasal bone at 11-14 is a 'soft marker' for Down's. Some researchers think it is a stronger marker and ought to be part of the overall test. I know the testing doesn't always spot Down's. It seems 65%+ of Down's foetuses don't have a visible nasal bone at the nuchal scan, compared to 1-3% of normal foetuses.

I can't stop fretting about this now. I realise it's probably hormonal in part (I'm 22+3) but can't seem to stop. It's too late for the invasive tests which I might not have wanted anyway.

Why do we have to go through this? I'd never have thought about it if it weren't for the abundance of information so easily available. DH, a rationalist, isn't alarmed. I wish I could pull myself together.

workshy Sat 02-Jun-12 21:06:23

can't really offer any advice but bumping for you

but worrying is a normal part of pregnancy so don't worry about worrying

Elderflowergranita Sat 02-Jun-12 22:57:31

Sorry that you are going through this worry. The internet can be a curse in terms of terrifying the wits out of you, especially in pregnancy.

The absence of a nasal bone is significant when taken in conjunction with many other factors. The sonographer rightly pointed out that you were under 12 weeks, she obviously saw no other markers of concern, and did not feel there was anything to be alarmed about.

You have two choices really: try your utmost to put your fears into perspective (very difficult I know, and I was the world's worst worrier when pregnant) and simply push past this very stressful and probably overwhelming fear.

Secondly, you could pay privately to have an amnio done. It's actually not too late for invasive tests, in fact an amnio would be safer at this stage in your pregnancy. This is the only test which will definitively give you the answers you're looking for.

I am in no way saying that you should go down this route (remember the sonographer saying 'a perfect little boy', believe me, they don't use those words lightly). I am merely saying that this is the only definitive test for Downs.

You also need to think about what you would do with the information, if the worst were to happen, ie you had the amnio and got a bad result. Would you terminate? If the answer is 'no', then I would try to step away from Dr Google.

If the answer is 'I don't know', or 'I'm not sure', or 'Maybe', then perhaps you ought to think about further testing, if only to put your mind at rest.

Again, am so sorry you're going through this anxiety, can totally empathise, and as workshy said, it's a very normal part of pregnancy.

Yaya70 Sun 03-Jun-12 11:57:17

I'm so sorry you're going through this worry.

Elderflower has given you very good advice I think. Many babies with Down's syndrome also have other soft markers, so the fact that everything looked perfect on the 20-week scan is a really good sign. What was the nuchal measurement? Given your low risk score, I'm guessing that the nuchal must have been normal. That's the most important marker, so is also reassuring.

If you need to know for certain so that you can either put the worry out of your mind, prepare for a baby with Down's syndome, or terminate the pregnancy, then as Elderflower says, it's not too late for amnio if you did decide to go down that route. If you wouldn't terminate, but just need to know for certain, then you could have an amnio later in the third trimester (when the risk is just of early delivery).

Many babies with Down's syndrome have heart abnormalities, so another option would be to pay for an in-depth cardiac scan. This wouldn't give you a definitive answer, but if the heart was fine then it might help you relax a little. Are you close to London at all? If so, I would highly recommend a scan at the Fetal Medicine Centre on Harley St.

Just fyi, the nasal bone was absent at my 12 week scan (done at exactly 12 weeks), and there was also a problem with the heart (tricuspid regurgitation). Combined with my age (40) and a nuchal of 2.0, I was given at risk of 1:2. The baby did have Down's syndrome.

Best of luck!

Elpis Mon 04-Jun-12 11:00:11

Thank you so much for these kind and helpful posts. I wouldn't feel able to terminate at this stage, so it makes sense to try to tamp down the anxiety. I have another scan at 33 weeks which I hope will be reassuring - yes, I could go to the FMC but I'm aware the lead consultant there has been pushing for absent nasal bones to be a stronger marker for Down's, and that makes me fret more!

NT was 1.4 at the first scan which, as you point out, is reassuring.

I think this panic is partly the result of not having many women around to share problems with. My mother died when DD was 3 months old and I don't have siblings, nor a huge network of friends with children (no NCT in my area, back to work at 5.5 months) to emote with. I shall hang on to the official risk figure and the 'perfect little boy' remark and hope the fears recede a little.

Thanks again.

TelephoneTree Sun 17-Jun-12 22:02:18

Oh I'm sorry you've got so much on your thoughts and are anxious. My first 2 pregnancies were totally normal and without worry and then i had 2 miscarriages and then another little boy and the last pregnancies were fraught with worry for one reason or another. It's really stressful.
For what it's worth, we have a little boy with down syndrome and to be honest, it's rather fun ;o)

mummytoh1 Mon 18-Jun-12 09:18:46

How are you feeling now Elpis? Pregnancy is a very stressful and emotional time, and it's perfectly normal to worry. I worried and worried through my first pregnancy about all sorts of things (none of them turned out to be worth a second of my time!) and of course my first perfect little boy was fine.

Second pregnancy I was determined not to worry and got as far as 12 weeks, when I got handed a 1:15 risk of down syndrome! So then my worry ramped right up to critical levels, and I worried about everything, even when I got the all clear on the down syndrome. In fact, I still worry now that they missed something which we don't yet know about - in my second perfect little boy.

It's all part of being a mummy! :-)

Elpis Wed 20-Jun-12 11:27:51

Thanks so much mummytoh1. It's very kind of you to ask.

The fretting about this particular issue has receded. I am a dreadful worrier, though, and the anxiety is triggered by my frequent migraines (had to stop medication when I became pregnant) and the fact I was diagnosed with MS (no, not morning sickness!) four years ago. I hold down a four-day-a-week job with my three-year-old, somehow, and the MS has been quiet since diagnosis, but lurking in the back of my mind is the voice saying The Worst Can Happen. I know this makes me sound like the world's most neurotic and sickly pregnant woman... and thank God I don't have any real complications so far. I'm 25 weeks today and getting stiff, but think I've found a decent compromise between lying on my back and squashing that important blood vessel and lying on my side and killing my shoulder! Have also given up coffee. It may be helping...

Secondsop Sat 25-Aug-12 22:17:59

Hello, just found this thread which is similar to my thread about nasal bones. My baby's was absent at 13+5, and 4.7mm at 22 weeks (cut off for normal = 4.5 so he's JUST within the range), and my risk at 13 weeks was 1:130 (it remained the same at 22 weeks). So your numbers are an awful lot better than mine! I'm 36 and it was the nose that made the difference to my numbers (the sonographer showed me the graph had there been a nasal bone and it was wildly different). So it does sound like it was the fact that your scan was at 11 weeks that meant that your numbers are actually very favourable.

I hadn't seen the stat about only 1-3% of babies with absent nasal bone being chromosonally normal, so it's worried me somewhat. If that's the case i wonder why my numbers arent even worse? I wonder whether babies with absent nasal bones often have other markers, which mine doesnt, and whether that is what brings my numbers to
1:130 rather than the much higher percentage that the 1-3% stat suggests. I guess all I can do is have my late amnio (I declined a CVS or amnio at 13 weeks because the miscarriage risk was higher than my Down's risk, and I knew I'd be continuing the pregnancy in any event. Am 24 weeks now). My other soft markers were all fine and the bloods etc, and the anomaly scan didn't show up anything wrong with the baby's heart so hopefully even if he does have Down's hopefully no other major problem has been indicated.

OP , have you managed to find out any other information about the nasal bone? I understand ethnicity can make a difference, and I also understand that some hospitals don't factor it in as a marker at all.

We have done all the testing and confirmed for Down syndrome, now at 34 weeks nobody has ever mentioned nasal bone one way or another and we have had loads of scans, wonder why when we came back high risk, they didn't check our measurements

Secondsop Tue 28-Aug-12 09:57:57

Hi freshfruitsalad thank you for sharing. Perhaps your scans showed
a larger nuchal fold measurement which I gather is a better indicator than nasal bone? Or it may be that your hospital is one that doesn't factor in the nasal bone at all. thanks again for sharing your experience and I hope all goes well with the rest of your pregnancy.

Elpis Thu 30-Aug-12 16:54:49

secondsop I too am confused about why some hospitals factor in the absence of a nasal bone and others don't. Mine (UCLH) is one of the leading London centres too. All I can gather is that a leading light at the private Fetal Medicine Centre has been writing a lot of papers about a link between absent nasal bone and Down's. Now, it seems to me that any survey carried out among FMC patients would have a higher rate of abnormalities, because they are more likely to have come there because of concerns and because they are likely to be older and richer. This research may well be right. But I know not everyone has accepted it yet.

I do hope all will go well for you. My 33wk scan was normal so I'm hoping that this means we're in the clear, although I know some cases of Down's are only diagnosed after birth.

Secondsop Fri 31-Aug-12 21:07:52

Elpis thank you for your comment. Yes, I also understood that the Fetal medicine centre pioneered the research into nasal bones and Down's but it's very interesting to read what you say about the studies possibly being in high-risk populations. I gather there's a bit of a battle of the papers about the significance of the nose, and also that ethnicity can play a part, especially for non-caucasians (of which I am one). The nasal bone also seems to be a pretty new test - I can't find much about it from more than about 4 years ago.

Secondsop Fri 31-Aug-12 21:12:38

I forgot to mention: my scans were at King's, and the FMC use the same sonographers, which would explain why the nose was factored in for me. It would be interesting to see if the nasal bone measurement becomes more universally established.

WipsGlitter Fri 31-Aug-12 21:15:15

Nasal bone is, along with nuchal and bloods, not a definitive test. My son had downs but also has a beautiful nose with a bridge! Try not to worry.

sleepyhead Fri 31-Aug-12 21:29:05

Secondsop - 1-3% of chromosomally normally babies having the nasal bone absent at 12 weeks is not the same thing as saying only 1-3% of babies without a nasal bone at 12 weeks are chromosomally normal!

I don't know what sort of weighting Prof Nicolaides gives for the nasal bone in the overall result, but he's certainly not saying that absence gives a 97% chance of there being an abnormality, so the stats aren't as worrying as you're seeing them.

Secondsop Fri 31-Aug-12 21:46:42

Thanks sleepyhead and wipsglitter for your comments. Kings gave a 1:50 weighting for absent nasal bone (so my overall weighting was 1:130 once the bloods and everything else were factored in).

I shall do my best not to worry - in any event this baby is much longed-for; it's my lack of understanding of the numbers that has thrown me a little.

I forgot to say Elpis great news about your 33 week scan and good luck with the rest of your pregnancy!

sleepyhead Fri 31-Aug-12 21:56:27

Ok, so they reckon that, statistically, 98% of babies with no nasal bone seen at 12 wks will be chromosomally normal and 2% will have DS (taking no other factors into account, which of course they wouldn't do).

I hope all goes well for the rest of your pregnancy smile

Secondsop Fri 31-Aug-12 22:02:16

Ah, thanks sleepyhead. I should have been able to work out 1:50 as a percentage really shouldn't I blush ...

LittlePoot Fri 31-Aug-12 22:07:44

Another downs baby here with a perfect nasal bone at the nuchal scan, along with a huge nuchal fold. I don't think its so much that the nasal bone factoring will be rolled out into use everywhere-at our hospital, they used to factor it in but now don't because it's looking less and less like a reliable marker. x

Secondsop Fri 31-Aug-12 22:13:24

Thank you littlepoot x. Interesting to hear of a hospital that no longer factors in nasal bone.

brettgirl2 Sat 01-Sep-12 11:56:20

I read it was because you have to add the 'absent nasal bone' numbers to 'unable to see clearly' numbers. This is up to 5%. Therefore it has the potential to lead to a lot more false positives and unnecessary invasive testing and worry.

The nuchal and bloods alone already has a ridiculously high false positive rate. Worrying even more women half to death about absolutely nothing is not seen as a benefit as far as NHS is concerned.

From what I understand the FMC looks at several other factors too and therefore keeps the nasal bone more in reasonable context.

Please try to relax op the vast vast majority of babies are chromosomally normal and the results show that yours is highly likely to be one of them.

I wonder what the probability is of being run over by a bus?

somewherebecomingrain Sun 02-Sep-12 20:28:01

OP my DS had no nasal bone at our 12 week scan at the FMC (the NHS didn't do one!!!! its equipment broke!) and a 1 in 3000 chance of Downs. they said no nasal bone is more common in black children which was interesting but sort of by the by for me as i'm not black. but i was really pleased with my estimated risk. Aged 36 i thought it was a good result. My boy came out without downs in the end.

Elpis Mon 26-Nov-12 20:54:56

Just to update... I now have a lovely two-month-old DS with no sign of any abnormalities. I would love him just as much if he had Down's and am thinking of freshfruitsalad. I hope anyone coming across this thread is reassured.

Elderflowergranita Mon 26-Nov-12 23:32:02

Lovely update Elpis. Congratulations! smile

narmada Sat 01-Dec-12 22:28:37

Congrats - enjoy him. They grow so quickly smile

I love my little boy; more so I think as just so proud of him. Thanks for update elpis xx

Oops forgot.... Congratulations xx smile

Elpis Tue 11-Dec-12 14:10:49

Thanks freshfruitsalad! How's it going?

Very well, his health is very good so we are lucky smile he is lively, strong and so well behaved, doesn't cry much at all! I have been counting my blessings

Elpis Tue 11-Dec-12 22:53:43

So glad to hear that. He sounds lovely. DS is very good too and only seems to cry when hungry or in discomfort, which is marvellous. smile

Secondsop Mon 31-Dec-12 23:42:15

Hi elphis congratulations on your son and thanks for the update. I found this thread really helpful so just wanted to update to say that my son was born on 29 November with no signs of abnormalities and a perfect little nose, but I would love him whatever happened. Thoughts to freshfruitsalad and thanks to you elphis and to everyone else who commented.

Elpis Tue 01-Jan-13 14:52:44

Oh, wonderful. Happy new year, secondsop! DS is very plump and has just started teething.

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