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Original poster

Just told we have a 1 in 4 risk of Down's Syndrome - can anyone help us work through these results?

10 replies

BrownPaperandString · 03/08/2010 20:35

We went for our 12 week scan yesterday at UCH and we were told the following:

  1. Nuchal fold 2.85mm
  1. Ductus Venosus a-wave: reverse flow (BUT the sonographer seemed to be having trouble measuring this and kept asking me to hold my breath and then muttered that it's very difficult because the vessel is only 1mm).

Also I asked if the heart valves were working properly / leaky and he said they looked fine.

  1. Blood: hCG higher than average & PAPP-A lower than average
  1. Nasal bone is present.

So - with all that info and the fact that I am 39, we were told we had a 1 in 5 chance of the baby having Down's Syndrome.

Has anyone any experience of this kind of pattern of results and what was the outcome?

OP posts:
lucy101 · 03/08/2010 20:42

Hi there - I am so sorry you have had such scary news.

You might want to post on the antenatal results and choices page as there are lots of mums there who have had worrying results. I know there are mums there who have had a 1 in 2 result.

I would also recommend the charity ARC - they are just brilliant:

[www.arc-uk.org]

I had some scary scans and you can ring them up and discuss what to do now, possible outcomes etc. They are really wonderful people and were a lifeline for me during an earlier pregnancy.

It is such a scary time for you, I have been there. At least 1 in 5 means that there is an 80% chance that it will OK if that gives you any comfort.

Original poster
BrownPaperandString · 03/08/2010 20:53

Thanks Lucy, that's really helpful. I'll do that.

xxx

OP posts:
nah1974 · 03/08/2010 21:00

I had similar blood results to you & am 35. Our daughter was born healthy at 35 weeks. She was very tiny (4lb 12oz) but is otherwise fine. I do hope that everything works out OK for you.

AbiAbi · 03/08/2010 21:05

Also the 'antenatal tests and choices' board here is excellent too.

peanutpie · 04/08/2010 06:45

Hi,

We had a nuchal fold mesurement of 2.4mm, I'm not sure what my bloods were exactly but, combined with my age of 37 we got a 1 in 5 result for Downs.

However the CVS came out as negative.

ARC were really helpful and also the antenatal choices topic here.

Original poster
BrownPaperandString · 04/08/2010 08:42

Thank you so much for your positive stories and suportive and helpful advice.

I spent most of the night awake worrying that our baby is deformed in some way and it hadn't picked it up. Night time thinking is a disaster!!

OP posts:
ChoChoSan · 04/08/2010 09:07

Hello,

Sorry that you have this worry BrownPaper

I had a 1:5 chance of Down's syndrome, but CVS showed everything OK. My NT measurement subsided from 3.6 at 11+3days (private scan) to 1.6 at 12+6days by the time my NHS scan came around (though wasn't too confident with sonographer due to her briskness and apparent desire to get us done asap!), so these things can change.

Are you considering having a CVS?

sleepwhenidie · 04/08/2010 09:10

If you want a second opinion then try the Fetal Medicine Centre on Harley st. It is Prof. Nicolaides' clinic - he devised the nuchal test and is one of the most respected and experienced fetal medicine doctors in the world. He works mainly at Kings but he and his Harris Birthright team work across all London hospitals (including UCH). The clinic is private but run for charity. A nuchal scan there is about £150 and if you then decide to have CVS they can do that too (usually immediately if you want)and the risk factor with them is probably as low as you could get, given their experience. They have been fantastic for me with 3 pregnancies, all with issues over scans and tests. The Prof is an amazing man.

Good luck - I know what you are going through so un-mn hugs too.

sleepwhenidie · 04/08/2010 09:13

BTW - I think the Prof is at the clinic on Wednesdays so if you phone asap and explain your situation they will prob try and fit you in today, though you may have to hang around/keep calling to find out when to go in. Nuchal test results are all given same day too, before you leave the clinic.

sam26oscar · 04/08/2010 09:31

i agree with sleepwhenidie i had Prof Nicolaides do my nuchal with Ds1 as had a m/c at 17 weeks following an ammnio, so wanted a non invasive procedure. my age at time was 36 and it came back 1:8006 it was such a huge relief to know he was doing it as he is one of the most prominent men in his profession.Unfortunatley i can't get to London for this pg and am having it done at my local Bupa, am hoping they are just as good Sending positive thoughts and hugs x

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