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No nasal bone present at 12+3

(24 Posts)
firsttimer08 Tue 07-Jul-15 05:29:34

Just had my 12wk scan at Kings and risk given was 1:3500 for the three trisomies. Was told I am low risk and hence no further testing needed. I asked on this several times and he suggested if I really want I can do harmony but it is really not necessary. No mention of CVS.

I came home and read the report and it states: additional aneuploidy marker: no nasal bone present.

I am surprised why this wasn't even mentioned to me during the scan or explaining of the report. I have now worried myself sick because it is quite a strong market of Downs (based on the Internet) and the sonographer failed to point it out.

What should I do? Will sonographer speak to me if I call them up or is it best to speak to the midwife?

Anyone with recent similar experience of "nasal bone absent" marker?

KittyandTeal Tue 07-Jul-15 10:25:48

I don't have direct experience of no nasal one. However, I have experience of very bad news at scans.

I promise that if they thought something was wrong they would have told you and suggested further tests.

I imagine they've looked at all your other markers and decided that it's possibly one of those things that is gestation related, as in some babies at this gestation don't have a nasal bone and you have no other markers?

If you are worried or don't understand the decisions that have been made I suggest you call the screening midwives and ask them to explain (the ones at kings were really lovely from my experience)

firsttimer08 Tue 07-Jul-15 17:36:13

Thanks! I managed to speak to the sonographer and he reassured me.

However I also did the harmony test and just found out I have failed it which is strongly associated with chromosomal abnormality. so I think I may be looking at having cvs done.

KittyandTeal Tue 07-Jul-15 19:08:17

That's a very quick turn around for the harmony, did you do it yesterday? Results are normally 2 weeks, are you sure it was a harmony and not the combined blood tests?

Appleblossom82 Tue 07-Jul-15 19:15:25

As kitty says harmony has 2 weeks turn around and costs hundreds. Is that what you had or something else?

What results have you been given?

I know its a stressful time. I had harmony and thank god it came back very low risk. But was the worst 2 weeks of my life flowers

firsttimer08 Tue 07-Jul-15 19:32:59

Yes I had that at 10wks privately - got result back today. Failed means that they had no result.

Read some research that it indicates high chance of abnormality unfortunately.

KittyandTeal Tue 07-Jul-15 19:43:04

Ah I see. Was there a reason you had a harmony done at 10 weeks? Any indication that you might be at a higher risk?

I'm afraid I don't know anything about harmony failures, although I thought it was more linked to not getting enough free fetal dna from the blood sample. That can we linked to gestation. Are ou absolutely certain of your dates? If you are not as far on as you thought that may explain no nasal bone and difficulty with the harmony.

If that's not the case I would certainly opt for a cvs. Have the private company offered you one? Often if a harmony fails or comes up high risk a cvs or amnio is included in the package.

sparechange Tue 07-Jul-15 19:50:02

Where did you have your Harmony test?
Like Kitty, I thought a 'failed' result is actually a void result when they can't get enough fetal DNA to test, and they will therefore retest for free. If they had picked something up, you would get a result back saying which trisomy you are likely to have a problem with.

They should do another scan at the same time so you should get some more information.
Can you ask Kings to refer you to a fetal medicine specialist? Obviously Kings is probably the best place in the UK for them so you may get more answers.
Keeping everything crossed for you flowers

Appleblossom82 Tue 07-Jul-15 19:51:50

Op i did a lot of reading around this and a failed result usually means they havent collected enough fetal dna which is probably because you had it done so early. It doesn't mean anything about the baby. You should have been offered a redraw (re take of blood) for free. Did they offer you this?

KittyandTeal Tue 07-Jul-15 20:34:00

Have you had you combined screening blood results back?

I am by no way an expert but when we lost our dd2 we spoke to the fetal specialists at Kings, they said they'd see us at the fetal medicine centre at 10 weeks for a harmony in my next pregnancy if we wanted to go private.

They said that 10-11 weeks is perfect for a harmony. They really should offer you a free re-draw or a cvs/amnio if you wanted.

cunchofbunts Tue 07-Jul-15 20:35:51

Did King's not do a Harmony test for you? They did for me.

Appleblossom82 Tue 07-Jul-15 20:59:56

10 weeks is the very earliest you can have harmony. The further on you are the more fetal dna in your blood. Id go for the free redraw rather than cvs personally.

firsttimer08 Wed 08-Jul-15 03:56:03

Thanks everyone.

I had the harmony as my previous miscarriage was a trisomy. After 3 mcs it thought it's worth spending for the package at FMC and I hadn't decided on Kings as hospital by then.

My harmony was exactly at 10wks and so I hope that it is just a case of being borderline early. They have offered me a free redraw and I think cvs will also be free as part of the package.

I got the results over the phone so far and then I go back on Friday for scan, redraw etc.

Regarding the connection between void results and chromosomal issues- I have come across a research paper which found significantly higher rate of abnormalities in the group where results failed once / twice due to lack of sufficient fetal DNA (versus rest of population) and also know one person where this was case ie twice fail and trisomy found later on (obviously that's just one random case).

Anyway I guess for now i wait and see ....

Appleblossom82 Wed 08-Jul-15 07:20:53

I guess so. I do feel for you. May all be ok yet. Odds are in your favour.

What measurements did you have for nt, hcg and papp-a? Must have been pretty good if you got such a low risk.

firsttimer08 Wed 08-Jul-15 09:53:26

Hello

NT was 2.00 at 12+3wks with CRL 70mm its a big baby
Free beta hcg 15.42 equiv to 0.3866 MoM
PAPp-A 2.809 equiv to 0.7834 MoM
PIGF 40.682 equiv to 0.8870 MoM

Are these good numbers? I haven't checked ranges so far.

KittyandTeal Wed 08-Jul-15 10:35:53

Well the closer the mom is to 1 the better.

The guys at kings explained to me that low hcg and low papp a were markers for t13 and t18. High hcg and low papp a is a marker for t21.

Those numbers look more like a t13 or t18 as you have low hcg but they aren't that far from 1 mom.

My numbers were 0.2 mom for hcg and 0.08 for papp a. Our dd2 had Edwards. Just to give you a comparison of numbers.

I don't know about ranges but those numbers don't seem too bad.

I would expect the guys at the fmc (we're saw the team at kings they do half NHS half private) will give you a much better idea. I've heard their scans are much more detailed too.

I'm so sorry you're going through this, what a huge worry after so many other losses. Do you know what trisomy your last baby had?

Appleblossom82 Wed 08-Jul-15 18:58:35

Numbers sound really good op. Papp-a a smidge low but not much (mine was 0.56 mom).

I had:

Crl: 56mm
nt: 2.6mm
papp-a: 0.56 mom
hcg: 0.9 mom
age: 33

Risk = 1:85

Harmony came back good thank god and all good at 20 week scan.

Your Nt is good and hcg under 1 is good. I dont know what the other one is sorry. This will be why your risk was 1:3500. I really think your baby is fine and the harmony was just done a bit early.

Have you decided what to do re redraw or cvs?

firsttimer08 Thu 09-Jul-15 10:22:55

Just an update. I went to FMC yesterday to see Professor Nicolaides. He said there was a definite nasal bone and everything else looked fine. So no need to panic at this stage. I should repeat the harmony and then wait for that to determine next steps. Thanks all for sharing your numbers - it's helps put things into perspective.

sparechange Thu 09-Jul-15 11:16:15

That is such great news. I'm glad you've had the reassurance. The Prof is great, isn't he

cunchofbunts Thu 09-Jul-15 11:49:30

Great news OP. Yes, the scans at King's are very thorough. This is my second pregnancy there and each scan has taken over two hours!

Appleblossom82 Thu 09-Jul-15 12:17:09

Great news flowers

firsttimer08 Thu 09-Jul-15 14:50:44

Yes the professor was quick but reassuring - went straight for the nasal bone area and said its definitely there. He did ask me to go home and now cook for my son!!

They also told me the gender smile

KittyandTeal Thu 09-Jul-15 16:50:48

Awesome news!

KittyandTeal Thu 09-Jul-15 16:52:14

Awesome news!

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