my friend just had a worrying nuchal scan please help.???

[sugarbea]

Ok so a good friend of mine has just had a nuchal scan for her 2nd child. The nuchal translucency measured at 3.5. and there were some abnormalities in her hormones at the blood test results. This has brought the risk of her having a down syndrome baby to 1 in 3. Today I went with her to the hospital while they tested the amniotic fluid with the needle, she was devistated and in quite a bit of pain AND has a HUGE fear of needles so was understandably not really listening to what the prof was saying to the sonographer.

However I was listening and I heard him say that the nasal bone was absent. And connfirmed in the notes.

She is almost inconsolable and I haven't mentioned the absence of the nasal bone or the probability of what it means.I'm far from a doctor and I don't want to worry her further, i think she is already preparing for the worst i'm not sure what I heard would be any help. (I've googled mainly) She finds out in 4 days whether or not her baby definately has downs or not.

She is one of my younger friends, only 22 and I feel useless. I'm not sure how to support her, I feel devistated for her so I can only imagine what she is going through. Does this definately mean down syndrome?
How can I help her? :(

Thanks for taking the time to read and apologies for spelling in advance.

Hi sugarbea, your post shows you are trying to be a good and caring friend. Unfortunately the signs do not look good. 3.5NT, bad bloods and absence of nasal bone is not encouraging. How many weeks is your friend? Can only really pick up nasal bone frm 12 wks.

I have just been through exactly the same (3rd pg), although my NT scan was good, my bloods came up bad (1:8) I opted for CVS as I was 14 weeks and you can't get amnio till 15 wks. Luckily the hospital called today to say my results are clear (no Downs).

Does your friend know what she will do if the result is positive for Downs Syndrome? The best thing you can do is be there for her (going with her to hospital was fantastic and very brave of you). You can't feel what she's feeling and you don't know what's in her head but you can be there for her to cry, rage, question, talk to, talk at etc. etc. Only she can go through what she is going through but you can be a shoulder to cry on. She is lucky to have you.

Btw, you were right not to tell her about absence of nasal bone - that's for the doctors to do and it's their job to make sure she heard. They must have seen she was distressed, perhaps they also thought best not to push it? Keep us posted.

Hi sugarbea, I'm so sorry your friend is going through this difficult time. I've been there, so I know exactly what she's going through. I was carrying twins and both were given a high risk of abnormalities (one very high risk at 1:2) due to a combination of factors.

The risk of Down syndrome is calculated using lots of factors and on the positive side your friend is young, so the chance of abnormalities at age 22 is much lower. With a 1:3 risk of Down syndrome, there's a 66% chance that things will be fine. Unfortunately, the absent nasal bone is not a good sign (75% of fetuses with Down syndrome have an absent nasal bone and

Thank you both..
She is 11 weeks pregnant..So possibly still too early to detect nasal bone..The sonographer at the scan offered her money back for the scan pics
She is quite certain she will terminate the pregnancy if the result is positive, i think due to her familys reaction and I don't think she's considered the possibility of continuing the pregnancy and i don't want to push her either way.Perhaps why she's so devistated.
I've initially told her not to worry about statistics and ratios as my dd was born with an abnormality 1 in 5000 and her scans were fine.
I think the combination of both blood, fluid and lack of nasal bone looks like it's iminent. She was insistant on watching the scans and i'm not sure what help I was as I was sobbing too. I just wish I could do more for her.

Sugarbea I had a 1 in 2 probability with nasal bone present but soft marker - we were the incredibly lucky one who had a clear result and although we didn't know what we would have done if the result had been positive, I too went through exactly what you describe with your friend. The not knowing is awful as there is no decision that can be made to move forward either one way or the other but you feel like you have to prepare for the worst as a clear result seems like too much to hope for.

Mumsnet helps, the people on here are really supportive and so many of us have been there- if your friend feels like posting on the ante natal tests thread she will find lots of support from people who know what she is going through. Also arc are amazing if she wants to talk things through. Apart from that she will just need a good friend to get through the next few days till the results come in which it sounds like you are. I went for long long walks as I couldn't bear to be around people and that helped. God my heart goes out to her.

thanks :)

she's not a mumsneter but i'm going to re post there. x

Thanks everyone
Her results were not good baby has both downs and edwards. sad times. She seems to be coping ok and feels a little bit easier that she doesn't really have much choice on the outcome of the pregnancy. As she was undecided as whether or not she would continue with it..

Will continue to be there all I can.

Thanks for advice and support.

So sorry to hear about your friend sugarbea. She's lucky to have a friend like you though. I expect she will be leaning on you a lot in the weeks to come.

sugarbea I was very sad to see your update of your friend, but as you say, the decision was more or less taken out of her hands as baby has downs syndrom and edwards.

I know it wont help now, but she is only 22 and has plenty of time ahead of her once she has grieved properly. I am nearly 40 and if my result had shown positive for downs, I would have had to start again and it took quite a while for me to fall pg.

Does she have a supportive partner as well?
Just continue to be there for her.