Told 1 in 13 High risk after nuchal screenings

[ceebs2013]

Hi there,

The happiest time of our life has suddenly turned into the most stressful and upsetting time We went for our 12 week scan on Thursday. The sonographer had real trouble getting a good position of the baby - for most of it the baby was sat bolt upright or wiggling around. She tried for a good 20 minutes before then deciding to do an internal scan. She then tried one last transabdominal scan before telling us she had some bad news.

She said the thickness on the back of the babys neck was much higher than it should be (7.2mm) and this could either be a sign of chromosomal abnormalities (downs etc) or a cystic hygroma. However, she said she couldn't be sure of which because of the position. She calculated our risk as being 1 in 13.

She was lovely but made it all sound so final and like that was as far as it was going. We came out absolutely devastated thinking it was all over. She phoned to tell us we will need to see a consultant on Monday so he can scan me again to see which of the 2 it is and then I can decide if I want a CVS or not.

We have spent the past 2 days on the Internet researching this and have seen so many wonderful stories of people being told the same thing with even less odds than us and their babies still being ok. I feel like we are getting our hopes up only to be dashed again on Monday.

Has anyone else out there had any experiences like this - good or bad? Also can anyone tell me what the CVS is like - I am absolutely terrified of needles and so the whole thing sounds horrendous to me but something I feel I will have to do. Any experiences or advice would be much appreciated xx

 

[pip2009]

Hi,

Sorry you are going through this, its such a worrying time. We had a similar experience with a high NT measurement and combined with my bloods gave us a 1:12 risk of DS and 1:58 of Edwards or Pataus. Unfortunately for us it turned out that our little girl had Edwards syndrome but I have heard plenty of stories where high NT measurements have corrected themselves and baby is healthy so try to stay positive.

I had a CVS and it wasn't the nicest of experiences but it was ok and over in a matter of minutes. They give you a local anaesthetic first to numb the area and then they insert the needle to collect the sample. I had quite a bit of cramping for about a hour afterwards but apart from it being a bit tender where the needle went in I was fine.

There is a really good forum on babycentre called Antenatal Scans & Tests and on there you will find lots of support and stories from others going through similar experiences. Also the charity ARC is brilliant and will be able to talk you through all the options about further testing etc.

Big hugs, its an awful time of waiting and not knowing but hang in there and I hope you get good news soon xxx

 

[Miss Bellum]

I am so sorry to hear you are going through this. I can sympathise, it is hard when it all seems to be going well and then you get this news

We were told we had a high risk which was calculated at 1 in 41. Was very confused and scared for a few days.

After a further talk with the midwife, and looking at the stories from people in a similar position, we decided against any further testing. As far as we are concerned, the odds of a having a healthy baby are high enough that we don't want to take the risk of harming bean by doing the invasive tests. Also, as far as we were concerned, what ever the test showed, we would still keep the baby so why risk it?

But I can fully understand why you might feel you need the certainty of CVS.

Its a very tough decision and very personal so I wish you all the very best for what ever you decide to do

 

[ceebs2013]

Thank you so much for your replies and so sorry pip2009 to hear that your little girl had Edwards it really is such a tough time to go through and I think the uncertainty of it all is the worst. At least if we had the CVS we would know for sure one way or another and could prepare ourselves with whatever we will have to come. I have however got massive doubts over the risk of mc with the CVS. It's just hard to know what to do for the best.

I keep thinking I just have to get through the next couple of days and then hopefully we will know a bit more once we see the consultant but it's so hard to stop thinking about it. I don't want to get my hopes up by reading all these stories that have turned out well but at the same time I feel I need the reassurance that it COULD be ok.

Thanks again for your replies ladies xx

 

[pip2009]

I remember the awful waiting part well so i really sympathise with you, its the not knowing that is the worst. Just to say that you don't have to have the cvs if you are worried about it, you can opt to have the amnio at 16 weeks instead as it is supposed to have a slightly lower risk of miscarriage. For us, the fact that the risk of us having a baby who had serious chromasomal abnormalities was higher than the risk of cvs causing a miscarriage was enough for us to opt for the cvs as we felt we needed to know sooner rather than later but its a very personal decision. Our consultant also told us that the 1% who do miscarry are usually the ones who miscarry naturally anyway because of the condition that the baby had.

I hope you get some better news in the next few days but please get in contact if there is anything else you have questions about which I might be able to help you with.

Sending big hugs xxx

 

[Emma867]

Hi there, we have just gone through the very same experience. From sheer exhilaration of that first scan to plummeting down to earth with a bang thanks to high NT reading and bloods. We were gave a 1:8 risk.

Opted to have the CVS and yes it is uncomfortable as the other poster said but you can get through it. We were initially advised that the results would take 2-3 days for the downs screening and 10-14 for the full chromosomal results. Turned out, there wasn't enough cells to do the quick screen and we had to wait a painful 16 days all in all.

We finally got our results last Friday.

All clear! No chromosomal problems at all.

All I can say is take each day as it comes. It's hard to remain positive because I sure didn't feel positive but I hope and pray all turns out well for you too.

One more thing, the CVS carries a 2-3% risk of miscarriage and the Amnio is 1%.

 

[Leesy]

I had a CVS too due to my bloods putting us at 1:29 for downs. It was uncomfortable but quite painless and over very quickly. For me, I had to know. We based our decision on down syndrome chance being 1:29 and miscarriage chance being 1:100. I got the result back just under 1 week later and everything was fine. I'm sorry you have to go through this. xx

 

[BrightLights]

Hello! At our 12 week scan 3 weeks ago we got told our baby had a nuchal measurement of 8mm! I was devastated having had a difficult pregnancy with my daughter I was hoping for less worry for this one! I had a CVS and all went fine and results came back absolutely fine no syndromes detected, I also found out we are having a boy from those results! Baby still at risk of being unhealthy but docs are happy with results so are leaving us until 16 weeks when we will have early anomaly scan and a check on the heart sounds and heart structure as high NT can be due to problems with the heart.

I have everything crossed for you that things will be ok! I totally understand how scary and horrible it is!

X

 

[ceebs2013]

Wow thanks everybody, it really does give a little hope to hear everyone's stories and it seems that more turn out well than not. I think I am more worried that it may be the cystic hygroma, that's what the sonographer seemed more concerned about...but then after reading on the internet about things such as turners, edwards etc which I had never heard of before it just terrifies me about all the things it could be!
I think I almost worry more about the hygroma because so many of them end in miscarriage and if it doesn't then our poor baby may need operations if it was that bad.
But your stories have certainly given me more hope today so thank you all. We need to wait by the phone today to be told what time to go and see the consultant later. We are hoping, even if the results are no better than last time, that we will at least have a few more answers and information as the sonographer really didn't tell us very much at all. I am hoping they may do the CVS today so we can hopefully have the results by the end of the week. How can such an exciting time so quickly turn into the most horrible time of your life?? I keep thinking how we should have been telling friends and family yesterday and today and now we don't even know whether we are having it or not
I will update later once we hopefully have more of an idea of what is happening, thanks again all xx

 

[Emma867]

Fingers crossed for you ceebs.

We feel robbed of that special time you should experience at the first scan. We were whisked from the scan room straight into a consultation room where we spent 2hrs with a counseller.

Hopefully your next scan will give you that happy, excited feeling we all deserve. x

 

[ceebs2013]

Well after a massive mix up at the hospital yesterday we didnt get to see a consultant then. However I have just had the CVS. I have to say it was awful! I have a phobia of needles anyway but it really was just the most horrible experience But I got through it! It's now a waiting game for the results. They did another scan before doing the CVS and the nuchal measurement was the same which was disappointing because we were really hoping it might have gone down. They checked all organs and limbs etc and they all appear normal at this stage so I guess thats something at least.
I just hope we get these results back quickly because the thought of yet MORE waiting is not a nice one!
xx

 

[Emma867]

At least you got through in Hun! Did they give you an indication of time for your results?

 

[Miss Bellum]

Well after a massive mix up at the hospital yesterday we didnt get to see a consultant then. However I have just had the CVS. I have to say it was awful! I have a phobia of needles anyway but it really was just the most horrible experience But I got through it! It's now a waiting game for the results. They did another scan before doing the CVS and the nuchal measurement was the same which was disappointing because we were really hoping it might have gone down. They checked all organs and limbs etc and they all appear normal at this stage so I guess thats something at least.
I just hope we get these results back quickly because the thought of yet MORE waiting is not a nice one!
xx

Sorry to hear the CVS was so horrible Hope you get the results quickly x x

 

[ceebs2013]

Thanks ladies they said 3 to 5 working days but said we should hear by the weekend. I have read it is normally 2 or 3 days so I am really hoping we might hear tomorrow but as long as we don't have to get through another weekend of wondering then I will be happy! Even if the results are not good,at this stage we really just want to know either way. We won't get the full results for 2 - 3 weeks but they said once we know about the main 4 then that takes out 95% of the chance of their being an chromosome abnormality. So we have our fingers and toes crossed! xxx

 

[kaths101]

Have no advice and Don't want to read and run but wishing your family all the best xx
Hopefully all this worrying has been over nothing.

 

[Newt4]

Hoping for the best for you!

 

[Wriggley]

hoping you get a good result back from the test

 

[ceebs2013]

Just a little update, we got the first lot of results back today for the CVS and baby is clear of the 4 main chromosome abnormalities! so we now have another 10 day wait on our hands for the full result and they have booked us in for a cardiac scan to check if there are any heart defects and also an earlier anamoly scan to check organs. Fingers crossed the rest turn out ok, I just want to be excited now but it's impossible with so much hanging over your head! But at least we have got the past the first hurdle anyway xxx

 

[Wriggley]

thats brilliant news hun!!!

 

[Emma867]

Ceebs that's great news! I've purposely logged on to check this thread and I'm delighted for you! It is great news so celebrate that. It's easy to dwell on all if the other things (I know we are too) so go out and have a nice meal or something to reward yourself for the recent stress x