what would you do? CVS or not!

[Clare123]

I know this is an impossible question for you to truely answer but I am really struggling with this and I thought that may be you could give me your perpsective.

During my 12 week scan at Kings I was told that I had a 1:1082 chance of a Downs Syndrome baby - included into this statistics is the fact that they saw a valve regurgitation in the heart (which is a marker for Downs).

I am now caught between a low risk number and this indicator. In reality I don't think I would continue with the pg if I knew the baby had down syndrome. However, the thought of losing our baby is terrifying. Plus my hubby does not want us to have further tests. So, it makes it very difficult for me. However, I can't sleep at the moment for worry about this indicator.

Helllllppppp! If you feel you are able to!

I think you'll find this is a very sensitive subject. Some people will find it offensive that you merely wrote "Downs Syndrome baby" (as opposed to "baby with Downs").

I also think that I would terminate if I knew I was carrying a baby with Downs, but that I wouldn't go for CVS in your case (I think). Only you know how intolerable for you is the idea of having a baby with DS. Did they give the statistic of what percentage of babies w/out a chromosone abnormality have that marker? And how sure they are that the ultrasound is right in detecting it?

Good luck.

have you thought about going to the Fetal Medicine Centre in London (private, unfortuantely and so not cheap)- the person to see there is Kypros Nikolaides - (he is the dr who came up with the Nuchal fold test) and is the best person to see with regards to diagnostic scans. The scan I had lasted 40 minutes! - the most comprehensive scan I ever had. He will be best placed to help you with what you have been told and, should you decide to, the best person to then do the CD sampling test. Hope this helps - I know it's not an easy decision.

I know it's a very sensitive subject and I definitely do not mean to upset anyone. I guess at the moment I am going through a very difficult time and just value any input you can give.

Clare if you are going to Kings for the scans Professor Nicolades runs the Harris Birthright Centre anyway. I have had a CVS at Kings and because the baby was in a difficult position for CVS, Nicolades did the procedure himself. He would definitely tell it like it is that's for sure. Unfortunately for us, CVS was confirming what they already knew from our 12 week scan-our baby had Trisomy 13 (a much rarer chromosonal abnormality that is incompatible with life) and we opted for termination.

It is obviously all down to personal choice, but to me your odds sound pretty good so am not sure I would go ahead with a CVS in your position. For us, our odds were 1 in 6 or something, and we had already had 'the talk' by a glamourous consultant so knew we would be getting bad news. The CVS procedure itself is not particularly uncomfortable and is very quick.

3 months ago we had our son, and although we are now automatically offered CVS if we want it in any future pregnancies, we decided against it as our results were good from the nuchal. We were guided by the consultants at Kings in this decision.

Anyway, whatever you decide I hope all goes well for you.

Thank you so much for replying. The problem is I am having difficulty in managing the worry. I have spent the last few days crying a lot and I can't seem to think of anything else. I don't want the tests, but I don't want this stress I am under.

Could not the valve regurgitation be something completely unrelated to Down's Syndrome, given that that odds against Down's Syndrome were high? Have you asked what it entails and how fixable it is?

I would also opt for another scan before going ahead with anything more invasive.

Yes, valve regurgitation happens in about 5% of babies without DS, but occures in about 70% of babies with down syndrome. So, it one indicator, but like many indicators does not necessarily mean your baby has DS.

As for the prognosis - very good. In 95% of cases valve regurgitation corrects itself and in a small number where is doesn't it ,can be easily fixed with a small operation. On the other there is a very small % which could lead to a major heart defect.

Its all such a number games. I am feeling a little bit better tonight, I feel I might be able to cope with this worry - I want to be able to as I don't really want a CVS.

Hi Clare - I am so sorry you are in such a state, but I do understand how stressful this all this.
The problem at the moment is that you are stressing about a whole lot of "what-ifs" and "maybes" and "could-be"
So first, catch your breath and make yourself a promise that you are only going to seriously stress about things that you know. At this point, all you know is that something picked up in an early scan may, when combined with other factors, may be an indication of something else - so nothing really definite there - and certainly not a definite diagnosis, okay?
Second, breathe again, deeply, and ask yourself what your options are -
a) have an invasive test.
b) have a second, more thorough scan.

Now, I get the feeling that a) is not an option for you at the moment, so go with b).
Once you have had another scan, preferrably with an expert like Kypros(if for no other reason than peace of mind), then you can think about further options like an invasive test and the potential risk involved.

Third, another deep breath and repeat after me, "I will promise myself to try my hardest to stress only about things that I know to be true and are under my control"

And last "Every time I start to stress, I will remind myself that it will not help anything at all"

Now, this is my gentle "shake of the shoulders" and I hope you will take it in the spirit with which it was written -

It is a little life, it is on it's way I would not do anything.

I had the cvs with my last two children partly because of my age and because I knew that I would act on the results if there was something wrong.

I went straight for cvs I didnt bother at all with the nuchal because I needed a definate answer not a risk factor and I knew that I would worry all the way through my pregnancy even with a low risk. I felt that even if it came back as 1:100000 potentially I could be that one.

For me this was the right decision, I do think its a very personal decision sometimes just knowing makes it easier to deal with.

I wish you loads of luck with a very difficult decision.

reading back what I have written it sounds harsh I dont mean it to at all, I am trying to explain my frame of mind when I had the tests done, I had 4 other children to consider the first time, the decision was made easier for me because I worked with the professor who did my cvs he was very very skilled and experienced so the risk of miscarriage was much lower than the national average.

if you can not face having a child with dowbns then test altho it will still only give a % chance and there is a risk of m/c with cvs I made the decision not to have tests because of the % chance thing it is not an absolute. also I know the results would not have altered anything

I think we have decided to postpone having it done for the moment. I am going to wait until after our next scan - which is when I am 16 weeks and see if anything come up from there. I am going to try to focus on our low risk number and try not to think of the indicator.

Thank you all so very much for replying. I really have appreciated all your responses.

Claire I hope you feel better now you have made a decision, try to relax and not worry, (I know thats easier said than done) and enjoy your
pregnancy. loads of luck to you

Helen

majormoo - I just read your post again. I am so sorry for your loss, and I am sorry I didnt say that in my earlier post.

Claire123 I don't know if I have anything useful to contribute but as you are sensibly trying to do I would focus on the low risk number... So sorry you have been through this though and am thinking of you, Giulia xx