Anyone had Chorionic Villus Sampling after high risk of Down's at 12 week scan?

[LittleMy34]

We have just booked to have a CVS test after being given a 1:24 risk of Down's Syndrome and 1:71 of Edward's/Patau's Syndromes. Our nuchal fold measurement was 4.8mm, which is apparently pretty high.

Anyone had similar results and decided to have CVS or Amnio? Anyone decided not to have the tests? How did it turn out?

Apparently the baby might also have a congenital heart defect, based on these results - yikes.

Any thoughts gratefully received.

[LittleMy34]

bump

[poppy34]

found this old thread (which you may have seen)

www.mumsnet.com/Talk?topicid=49&threadid=233990#4712406

There are still good odds that might be not be any of the syndromes above - its just indicative to test more . Where are you having your test done?xx

[mrslurkalot]

Hello littlemy34,

I had a CVS after my nuchal scan, in my case the nuchal result was not too bad but the bloods took my results to 1:24 risk of downs and 1:8 of Edwards.

The CVS itself was fine, a bit uncomfortable and I would recommend that you take it really easy afterwards as I was a bit sore. I also felt that if I rested as much as possible that I was doing all I could to reduce chance of miscarriage.

I had the test on the Tues and got the results on the Fri pm, the midwife who saw us said it just depends on how quickly your cells grow as to how long the results take - some are back within 24 hours, all back within 4 working days.

Our results were clear and I am now 25 weeks pregnant with a little girl. I remember all to clearly what a horrible time it was and my thoughts are with you.

I found ARC (www.arc-uk.org) 0207 631 0285 really helpful, it was just great to talk to someone who could talk me through my results and help me understand the risks properly.

The only way I could stay sane was to try and keep the risks in perspective by looking at them as percentages. You have a 96% chance that your baby DOESN'T have downs and nearly 99% chance that your baby DOESN'T have Edwards/Patau.

I wish you all the luck in the world. Take care of yourself.

[LittleMy34]

Thank you! Really good to hear from someone who's been through it. I might try ARC tomorrow, am keeping relatively sane but feeling completely exhausted from the tension and emotion. Not sure what we'll do if the results aren't good, but I guess it's one step at a time....

apparently the high nuchal fold measurement could also mean a congenital heart defect, does anyone know any more about that?

thanks again for answering, keeping my fingers crossed for Thursday.

[LittleMy34]

bump

[LittleMy34]

last bump before i go to bed [yawn]

[angel1976]

Hi,

I just wanted to add to mrslurkalot's post... I also had a CVS (actually 2 as the first one failed but was told that is VERY rare so don't worry about that!) with this pregnancy as I had an increased risk due to NT measurement of 2.7mm. My CVS came back normal and we found we we are having a boy. We were then scheduled for a 20-week anomaly scan AND a fetal cardiac scan as in increased nuchal fold can also indicate heart issues. Everything measured within normal range with the anomaly scan. We were then taken to another room for the fetal heart scan and they spent 15-20 minutes looking in detail at the heart structure and measuring the heart waves/beats and again, everything came back within normal range. I am now 27+ weeks pregnant and have a 28-week growth scan this Thursday to check that the baby is growing okay as one of my hormone levels came back slightly elevated which could indicate growth problems but fingers crossed, I'm not too worried so far as everything seems to be looking good so far. Hope that helps!

Ax

[notmyrtle]

I had a CVS with my dd - I had a risk of 1 in 16 for DS & 1 in 40 for Edward/Patau's. The CVS itself wasn't too bad at all, although the wait for the result (we had the FISH test done & got preliminary results back in 3 days) was hellish.

The results came back absolutely normal but I had extra scans because of the risk of heart disease & to keep an eye on my placenta.

I had the combined screening where they take the blood results into account as well, the high reading was caused by really high levels of one of the hormones (the HCG) but again there was no explanation for it.

Hang in there, it's a really really hard time.

[LittleMy34]

Thank you so much, angel and notmyrtle, for sharing your stories with me - really reassuring to hear of people who have had the same thing and now getting normal results back! Am trying not to worry as I know the odds are really good, but as you say, it's a hard time.

The hardest is knowing what we would do if the results were bad but not 'incompatible with life' (such a lovely phrase), but that's a bridge to cross when we come to it.

Apparently our hospital has a lower than average rate of mc after cvs, so fingers crossed!

Thanks again - much appreciated.

[Orchide]

LittleMy34, ive not been in your position but just wanted to voice my support.
My scans with DD came back ok but can remembeer clearly the feelings and worry following the scan while we waited for the results.
My fingers are tightly crossed for you - think you should def. take it easy and hope that you get a positive result.

x

[LittleMy34]

Thank you Orchide, fingers crossed all will be fine, it really helps to hear from people wishing us well.

[jeanjeannie]

I don't usually post much stuff (just lurk!) but I saw your post and thought I had to share a happy outcome - from horrible odds.

Last Weds I found I had a 1 in 2 chance of Downs and 1 in 7 for Edwards. The nuchal fold was 3.5mm and my PAPP-A blood results were so low they were scraping the floor. AND I'm 42! We were at the Fetal Medicine Centre (after an NHS cock-up they failed to get me a CVS in time - said I should wait for an Amnio!) and had the CVS done there just in the nick of the permitted time. It was about 20 secs of minor discomfort - not had a twinge since and got all-clear results back on Friday!

I've got all fingers crossed for you - I really, really understand your worry and stress. Definately take it easy - hang in there and wishing you well for a good result. x

[LittleMy34]

Oh that's such a good news story, I'm so pleased for you! Thank you for coming out of your lurking to post, it's great to hear that you've got the all clear, and as you say, from such terrible odds.

People on Mumsnet sharing these stories is what's keeping me going right now, so thank you all.

[SazzaK]

Just thought I would add that I had a friend in a similar situation with her first baby - awful as she should have been able to tell everyone she was pg after the nuchal, but instead had to wait for CVS and more results. All went fine, and her little boy is now a bright and perfect 18 month-old and adorable. I am sure it will all be fine for you too, good luck.

[rubyriley]

Hi, I'm new to this so this may be my 2nd message saying the same, bear with me I've read lots of forums about CVS's and would like to add another side to the discussion. I had an age related risk of 1:42 then a decreased risk of 1:55 resulting from my nuchal fold/bloods screening. The CVS was a scary thought but I would not be so worried next time, for me it didn't hurt and was over in about 10 seconds. Waiting for the result was hard, and mine took 5 days. I thought my result was 98% guaranteed to be a good one but sadly it wasn't, our baby had Downs. We took the CVS in the knowledge that we were prepared to terminate the pregnancy and sadly we did this on Sunday 2nd Dec This was the right thing for us but I appreciate that this was our personal choice. A sad decision but the hospital staff treated the termination professionally and the baby with dignity. We asked for its body to be used for medical research for the benefit of others. This experience was upsetting but has not put us off trying again. So, there is another side to the risk figures; you can have a normal baby with a 1:2 risk and a Downs with a 1:200, the only way of knowing is by having the CVS.

[LittleMy34]

Thanks Rubyriley, that must have been hard to share. It's such a lottery isn't it - as the midwife said to me on the phone, even with a risk factor of 1:4000, someone's got to be the 1 in that 4000.

Totally support your right to make the decision you did, I think it's got to be down to individual choice and understanding of what the results mean for you and your family. You must still be feeling very sad and emotional about it all, so I really do thank you for your bravery in posting about it here.

Sending you lots of [hugs] and support.

C

[jeanjeannie]

Just read you post Rubyriley - and my heart goes out to you and your family.

I too totally support and respect your decision. We also took the CVS with the knowledge that we were prepared to terminate the pregnancy and I now really understand just how hard that is. With our 1 in 2 result from the NT scan we were told not to expect good news and I truely believed I would be going through what you are experiencing now. Like you said the only way of knowing is to take the test and that brings with it it's own stresses and very often heartache.

You're very brave in posting it here and so soon after the event. I applaud your decision to support research - send you hugs and wish you and your family well. x

[rubyriley]

Ah, big thanks to you both xx My thoughts on the results of all the screening and ultimately the CVS is that even if you do receive the result that you fear, though it is upsetting, you can and do cope. Us women are made of strong stuff! I had my 3 stage test done through Stafford Hospital who are piloting an NHS scheme for early diagnosis. I am eternally grateful that I was part of the pilot scheme and that we were still at a relatively early stage in the pregnancy (14 weeks). I feel I would have found it hard to terminate a pregnancy approaching the mid term point but again maybe you just cope. I think we were just very unlucky, given my bloods which were within the normal range and a nuchal fold of 2.2mm. After the CVS result, they re-checked the nasal bone on the nuchal fold scan and found that it was indeed missing. But only 75% of Downs babies are without a nasal bone, the remainder have it present. Good luck to you LittleMy34, once you know your result you can relax and both you and jeanjeannie can enjoy the rest of your pregnancies xx

[LittleMy34]

Can I ask, rubyriley, if you don't mind talking about it, how did your DH/DP cope? Mine won't even talk about the worst case scenario at the moment, not because he's against it morally but because he finds it too hard to talk about. I think I'm more practical - or maybe I'm just shutting myself off emotionally more in case things aren't good?

Anyway, if you can bear to share, would be interested to hear a man's perspective.

Obviously understand if you don't want to talk about it.

[mrslurkalot]

Hi, just wanted to wish you lots of luck for tomorrow..........x

[rubyriley]

Hi,He didn't cope very well at first but he had his own grieving to do I think. I have 2 children age 19(!) and 10 whereas he has none and has reached a point in his life now where he wants a child. I felt from the time we heard the results from the CVS he withdrew into himself and at the time I felt he was quite unsupportive and self absorbed. He'd rush home from work and take days off to be with me but he was mopey and depressed and I told him so Not hugging me,not asking how I was, talking about girls who had gone into work with babies and how it had upset him, generally making me feel worse as if things weren't bad enough. He's a lovely man usually! I found it hard to feel sorry for him when I was still carrying a Downs baby inside me and we knew we would terminate His worst day was Fri,when I took the tablet to unseat the pregnancy. He knew there was no going back at that point and his dream had ended. I've learned that it's a tough time for both parents, not just the mum xx

[rubyriley]

Yes LittleMy34, don't worry about the CVS, either the test itself or the result; the former is over very quickly and was, for me, painless. I'm sure your test result will be normal. Worrying is the biggest waste of energy, so they say, and doesn't change the outcome xx

[LittleMy34]

Thanks so much for sharing rubyriley, and I'm so sorry you had such a tough time. I think men deal with things very differently, and I do feel sometimes like I'm adopting a 'let's get on with it' attitude while he's wallowing a bit. But that's probably unfair, he probably needs a bit more time to process it.

Glad to hear the CVS is painless, have just started getting nervous about it!

Thanks MrsLurkalot, it's really nice to hear from people wishing us well. Fingers crossed!

[PatsyCline]

Hi Littlemy34,

I hope that things went okay today. My DD2 had a one in three chance of Edward's Syndrome and I will never forget the stress of waiting for those CVS results over Christmas 2004. She did have a related problem which she survived.

The posts about the reaction of DHs/DPs are interesting. The night we came home after the tests my DH didn't cuddle my bump in bed(I was 18 weeks)and it made me feel so angry, because I didn't have the option of 'moving away' from our little one. Whatever happens, I guess that the key is to talk as openly as possible to one another.

Pregnancy should be such a happy time and it breaks my heart every time I read posts like this.

Patsy xxxxx

[LittleMy34]

Hi Patsy,

The test isn't till tomorrow, but thank you for your post and for telling us about your DD2. I hope she's hale and hearty now?

It's really good to hear about people whose babies have survivable problems, makes me realise there are lots of possible outcomes here and some of them may look bad but can turn out ok!

I guess I should be glad I'm being cared for so carefully and in a country where we have a reasonably sophisticated medical system. And Mumsnet!