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.

Sorry, Littlemy34.

DD2's abnormality was pretty dreadful and we were given 50/50 odds on her survival. She has been 'a challenge' and her health is still a little fragile, but the consultants think she's unlikely to have any long-term health problems, which obviously makes me very happy.

I had wonderful support from our foetal meds unit and I will always be grateful for their incredibly caring approach. There are some very special people working in that area of medicine. Once I started to see those experts, I felt much calmer because I had complete confidence in them.

Good luck tomorrow.

Patsy x

Sorry, Littlemy34.

DD2's abnormality was pretty dreadful and we were given 50/50 odds on her survival. She has been 'a challenge' and her health is still a little fragile, but the consultants think she's unlikely to have any long-term health problems, which obviously makes me very happy.

I had wonderful support from our foetal meds unit and I will always be grateful for their incredibly caring approach. There are some very special people working in that area of medicine. Once I started to see those experts, I felt much calmer because I had complete confidence in them.

Good luck tomorrow.

Patsy x

That's good news about her long term prospects, I'm glad to hear it, although it sounds like a tough road for you to get to this point.

the hospital here has a very good record for Fetal Medicine and is the referral unit for the South West, so we're in good hands!

Thanks for all your messages

Hi, have been thinking about you today....how did it go?

Thank you for thinking of us! Just got back from the test - all went very well and we had a Professor in Fetal Medicine doing it, so you can't get much better than that in terms of care.

Now it's just the jolly wait for results - in the mean time though it's movies and crumpets on the sofa.

It's not a comfortable procedure, is it?

Glad it went well LittleMy34! My understanding is that the level of comfort associated with the CVS procedure relates to where the placenta is;I had read such horror stories about climbing the wall with pain (and made the mistake of watching a video on youtube ). I wanted to tell my own experience, that the thought was worse than the actual procedure and if you can relate to others your good experience, it can help to put their minds at rest . My termination has left me feeling thrilled for those who have good results and also that I can't wait to try again - even though my risk will be doubled next time. But, whilst my risk is doubled, it is apparently rare to have another Downs pregnancy (please noone tell me if they have experienced this! )If my risk of 1:55 gave me a bad result yet a 1:2 can be normal, then the risks are certainly a minefield, as my Consultant said. If I have another Downs pregnancy then I think I'll call it quits and just be grateful for the life I have xx

Thanks rubyriley, my experience certainly wasn't too bad - uncomfortable but not unbearable. He said it was all very straightforward, fingers crossed that luck will carry on.

know what you mean about the minefield though - the stories on here really illustrate how little statistics have to do with real life!

Hi, glad it went as well as it could. Not the most comfortable no! Feels very odd when they are actually removing the cells. Make sure DH is taking good care of you and rest as much as you can....

I felt better immediately after doing the test, almost like it was out of my hands. Hopefully you will have your results on Monday.

Take care of yourselves, I have everything crossed for you x

Hi Littlemy34, just realised your test was yesterday - glad it went well - am thinking of you. And no, it's not the most comfortable of things - but more emotionally draining than anything else.

Take care over the weekend - rest up - watch some cheesy movies - treat yourself to biscuits!! I hope you get your results asap....and I've got all fingers crossed for you. BIG hugs x

Just read this thread as I had a nuchal test yesterday, which combined with blood tests have given a fairly high risk factor for downs. Really hard to get my head around as the scan bit was fantastic, the dr said risk from that 1 in 3000 but half an hour later we were told that there was a problem, like for notmyrtle, with one of the hormone levels in my blood which is apparently six times higher than normal.

We have booked in for CVS next Wednesday at the Fetal Medicine Centre and I am very apprehensive, but its very comforting to hear lots of positive stories and I am glad that there does not seem to be anyone who miscarried (as a result of CVS) what turned out to be a healthy baby - the worst scenario we can imagine.

A couple of questions - how long do you have to rest for after the CVS and when are you considered to be in the clear in terms of the resulting risk of miscarriage?

Just to say please don't be afraid of CVS or amnio - I've had both and they were both fine in themselves. In my first pg, my nuchal fold came back fine but I insisted on further testing as I just had to know and I'm glad I did because then I had the choice to terminate the pg which I did. I now have a healthy one year old.

MC is a risk but it is tiny and the specialist centres like the Fetal Medicien Centre do so many that their risk is much much lower than the average.

I took 48 hours off to rest afterwards.

I think a lot of people are very afraid of the testing and actually, that part of it is ok. The waiting is hell, as others have said, but the upside is if you get good news which you most likely will, you feel much more relaxed for the rest of your pg.

Hope all goes well for you xx

Hi Louandben, I was told about a week by my CVS team but the official answer is that the risk remains for the remainder of the pregnancy. Don't really understand that .I was also told that the risk for the CVS included all those who would have miscarried anyway and the reason for the CVS having a higher risk than an amnio was simply because the test was done earlier and there are usually more miscarriages at that stage. I was 12wks+4 when I had mine, and the Dr performing the test asked why I hadn't waited for the amnio as the risks were higher for the CVS and I had missed the main advantage of CVS, i.e. earlier termination by anesthetic as opposed to labour induction. The risks were higher, she said, because the test was more invasive with the needle prodding the placenta a few times and healthy babies are lost as a result of the procedure. This really upset us and we left the CVS room to consider our options. We decided that the chances of not having a problem was still 98%,&we both wanted to get any test over and done with so went ahead. As my result came back positive for Downs, I was so pleased I had taken the test and the pregnancy was 14 weeks as opposed to heading towards mid term. I would certainly have one again, and wouldn't worry about having it next time. The thought was worse than the procedure and the invasive part is over in about 10 seconds. A weird feeling, all that pushing, but painless for me. Good luck, sure you'll be pleasantly surprised xx

Thanks Margo and Ruby - that is very helpful.

It sounds a little callous maybe but as bad as this is, it isnt nearly as bad as with my last pregnancy when at 24 weeks the NHS completely screwed up a scan (managed to note both arm bone measurements of our DS as 23mm instead of 32mm)which coupled with slightly small leg measurements led them to tell us we had a 1 in 100 chance of downs and even higher risk of dwarfism and recommend immediate amniocentesis. The night we had after going home from that test really was hell. For me at least, the thought of risking a miscarriage and worse, terminating a pregnancy at 24 weeks is so different than at 12 weeks (not that termination was an option then if the baby was a dwarf, only if DS) - so I know exactly what you mean Ruby about wanting to know before you get to mid-term.

By the way, before getting amnio we sought a second opinion at the fetal medicine centre the next day and they told us that there was no problem with our DS at all. There were two people plus a consultant doing our first scan at an NHS so called centre of excellence for fetal health and they still messed up ...so to anyone whose scan measurements appear abnormal, get a second check before doing anything else!

Gosh, what an amazing story! Perhaps sometimes they do so many that it becomes a conveyor belt and mistakes slip in. At my nuchal fold, the sonographer made comments like "ah, lovely", yet after the CVS result the scan was re-checked and it was then noted that the nasal bone was missing (75% of Downs have this)I don't really understand why this is not also put into the computer to calculate the risk as surely this would have increased mine from 1:55. So, for me, the CVS was a Godsend (though it didn't feel it at the time) I understand that normally people receive good news from the test but I also think that maybe those who don't, perhaps feel too shocked and upset to share their news with forums.I wanted to put the other side forward and to show that it's upsetting news but not the end of the world. I too, took it easy for a couple of days but the team at the fetal centre said some women arrive with their young toddlers on the bus, have the test, pick up their toddlers and head off to catch another bus. And my nurse said they probably weren't any more at risk than those who put their feet up. However, I still put my feet up

Exactly the same for me rubyriley. The sonographer said my nuchal tests were "perfect" and although I know it's nice to allow yourself to take that statement at face value, I am so glad I took the extra test. I feel positive about what happened although it was awful at the time and I think it's a shame for women who want to have the further testing to be put off by fears of the test itself or fear of mc (I've had two so I'm not dismissing them lightly).

I am definitely taking the putting my feet up option too - why risk it?! My lovely MIL has just offered to come down to look after DS while we are having test done and to stay the night so I will be able to relax and maybe even have a lie in on Thurs. Going to try my best not to think about it too much in the meantime.

I was given a basic statement - if your baby does not have down syndrome - it will be a miracle. We chose not to have an amnio and the result is on my profile. We knew we would not terminate - this was our daughter and she had a right to be born - who knew what potential lay in that little life.
We have since learnt out chance was 1 in roughly 5 given the type of heart defect.

I have a child with down syndrome BUT i have never had a 'downs pregnancy'.

Her heart defect - very common and whilst serious easily repaired. In fact once she recovered ( and she had the surgery at 8 weeks old - 2 open heart surgeries) unless you see the zipper - you would never know.

My baby is off to mainstream school at the end of the summer.

I guess for us - down syndrome was not something to be afraid of as we had contact with adults and children who had down syndrome and who were living amazing lives and doing things that put some nt people to shame.

We went on to have two other daughters who are also the lights of our lives and who adore their older sister and vice versa. They do not miss out nor are they disadvantaged by having a sibling with special needs - I think they are advantaged and our blessed as are we to have our daughter. My third pregnancy I had my first nuchal translucency screening - mainly as it diagnoses a number of conditions other than down syndrome and we were concerned about a possible inherited heart defect. My result started at 1 in 56 and after nts was 1 in 962 at 37yo.

In terms of day to day care - dd1 is the easiest to care for. I could go on all day about her and how capable she is.

Just as an aside - it really isn't appropriate to refer to people with down syndrome as a 'downs' - you see so many people see the syndrome and not the person. My dd1 is not a downs - she is a little girl who happens to have down syndrome - which is but a small part of who she is. It is more appropriate to refer to the person as a person/girl/boy/baby/child etc with down syndrome.

eidsvold, that was a lovely post and I hope your DD loves going to school

yes, I agree with Anniebear.

I'd add that sometimes the m/c risk with these tests or terminating (I hate that word) a non-disabled baby are higher than they claim plus the nuchal scan/blood tests depend on the expertise of those doing it.
And then you get all those conditions you cant test for. My daughter was born with severe cerebral palsy. Can't be tested for. And even if I'd known I wouldn't have killed her.
Pregnancy and life are risky and you can't weed out all the 'non-perfect' people.

Yes, I do understand that lots of people love their children regardless of their disabilities. And I have no doubt that if I had not had the screening tests and had delivered a child with Downs syndrome I would have loved it and cared for it all of its life. As my midwife who has a Downs syndrome child put it, her son is the light of her life but she was screened 2nd time around because she wouldn't want another one. I also think that it's natural to want your child to not be disabled given the choice. In nature, animals reject their young if things aren't quite right because they would not survive in their environment. I do believe strongly that it is a mother's right to make that decision and that's why we are offered screening. Out of 147 CVS's performed in Birmingham (I think last year but not sure), 3 diagnosed Downs syndrome and all 3 terminated (yes, a horrible word but that's the commonly used medical expression)For me, I didn't feel that I would cope with it, which is why I had the screening and why I ended the pregnancy. It's not everyone's choice but that was ours and it was right for us. We asked for the baby's body to be used for research so that maybe one day people won't have to make the choice.

just a nitpick here. The term 'Down's child' isn't used. Anymore than 'cerebral palsy child'. Its child with XXXX
Children are children, not defined by their medical conditions.

Well it only really makes sense to have a CVS if you're going to terminate given a positive result, so I suppose 3 positives terminating isn't all that surprising. Lots of unecessary cvs's though - 144 - with the 1% mc rate (and it may be higher -especially for cvs- many sources quote 2% for cvs)- that's 1 healthy normally developing baby lost (in exchange for 3 with DS picked up). UNless there were other conditions such as trisomy 18 or 13 picked up I'm quite shocked at those figures.

Ruby. We are not animals. If we were, whena child became brain damaged through meningitis or accident or developed autism at 3 we'd be allowing 'termination' at those ages too.
I can't quite believe you said that.
And I would say we love our children regardless of their ABILITIES and who they are, not 'despite' any problems.

'I also think that it's natural to want your child to not be disabled given the choice. In nature, animals reject their young if things aren't quite right because they would not survive in their environment'

true, but then do animals have heart surgery, ho9spitals, benefits systems etc? That makes a huge difference

My experience is that ds3 was screened as having a high risk of downs syndrome (he's now 4.5), we chose not to have Amnio at the last minute- miscarriage risks, etc etc. Plus I know I was lucky in that I had experience nursing peolpe with DS so had probably a bteer idea of ther ealities of disability than some people.

DS3 doesn't have DS. he has Autism. Something that cannot be screened for.

Ths time aorund (I am 24 weeks pregnant with my 4ths on) I have taken the decision to skip tests as in relaity, DS is perhaps the least likely disability to affect the baby having 2 asd siblings, but also because I have learned the lesson that we would cope. Just at times certainly, but somehow.

I'm not anti termination, I think its a crying shame that more people don't have experience of disabilities in their community / educational history as I feels trongly that people would be a lot less scared if they had experienced the reality of what disability means. I hope that world will come about one day.

Please don't refer to disabled children as not quite right in any contxt though- nobody ahs ever met my ds3 and failed to adore him; he is perfect in every sense of the word and very treasured.

I am sorry for your loss, I hope you have plenty of time to grieve and that you get your family in the future if that is what you wish. God bless.