thread: CVS / Genetic Testing dilema

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  1. #1
    Registered User

    Apr 2009
    Hawthorn, VIC
    230

    Unhappy CVS / Genetic Testing dilema

    I am feeling really, really torn and lost about this.

    I always thought I would definately have a CVS, but now that I am pregnant, and the genetic counsellors keep saying 'one percent chance of miscarriage' I am really scared.

    As a carrier of a balanced Robertsonian translocation (13 and 14), there is a risk that our baby could have Trisomy 13. The genetic counsellor said this risk is around 1 - 2 percent. My research suggests 5 - 10 per cent.

    I am so scared of risking miscarriage by having a CVS, but I am also not sure if I can cope with the stress of not knowing for the rest of the pregnancy

    Any thoughts? Similar situations?

  2. #2
    Registered User

    Dec 2007
    Geelong
    3,438

    I'm sorry you are going through this right now. With my last pregnancy my ob wanted me to have CVS/Amnio done as my previous pregnancy I had a baby with Trisomy 13. We decided to wait for my 20wk scan as we didn't want to take the risk of miscarrying a healthy baby and would then make a decision once we had our scan. In what ever decision you make I really wish you all the best.

    Regards,
    Dianne

  3. #3
    Registered User

    Jul 2007
    Sydney
    3,861

    HI hun, sorry you are needing to make this decision, I had a cvs last year as I had a risk of DS of 1 in 28. I am glad I had the cvs, as knowing what my risk was, I would have been worrid the whole pgcy, not that my pgcy was a worry free one, I still had a lot of things thrown at me in relation to the baby, but knowing that my results had come back normal, made it something less to worry about.
    The thing is hun, the decision you are facing has to be made by you and you alone as well as DH. No one else can make this decision, but you need to think, if this baby has trosomy 13 or something else, what would you do? Will you continue on with the pgcy? Would you be prepared to wait until you have the baby to find out if all is well? If knowing isnt going to make a difference and that you will continue with the pgcy, then dont do it.
    They told me that when I had to decide, but I went ahead with it, as I needed to know.
    Goodluck with your decision, I hope all turns out for you, hugs

  4. #4
    Registered User

    Sep 2007
    Adelaide
    220

    I just wrote a long post and it disappeared. Grrrr I will try and remember my main points.


    Would you consider an amnio instead of a cvs? The risk of m/c is lower.

    Also, the risk is actually lower than they report because they include any m/c within 2 weeks of the cvs for statistics. You could imagine that some of these pregnancies were going end in m/c anyway as cvs are usually performed when a problem is suspected. The risk is also lower when it is performed by an experienced doctor.

    I had both a cvs and an amnio. For me the risk of miscarriage paled in comparison to the risk that there would be something wrong with my baby. I lost a baby at 12 weeks, so I do understand the heartbreak of miscarriage.

    There are no easy answers. For me I had to just think about the outcomes. How do you feel about possibly having a baby with trisomy 13? Would you chose to terminate or is the cvs just so you know what to expect?

    You are in a difficult situation. I really feel for you.

  5. #5
    BellyBelly Life Subscriber

    May 2005
    in the national capital
    1,682

    Talia

    I hope that I never find myself in your situation but the only advice that I can give you is, will knowing change anything, if so, I think I would have it but if the answer is no then I don't think that I would.

  6. #6
    Registered User

    Apr 2009
    Hawthorn, VIC
    230

    Thanks so much Dianne, csab and Holly, for your replies.

    If we found out there was a trisomy before 14 weeks, I believe we would terminate. So for me, there is a reason to do the CVS. And of course, if nothing is wrong, WOW what a relief and I can relax.

    However if we found out after that (e.g. if we had an amnio instead), I would definately not terminate, I would carry to term. So having an amnio isn't probably something I would do.

    The guy who will do the CVS is meant to be SUPER experienced, and apparently the risk really reduces with the experience of the practitioner?

    Grrrrr bloody DH is now saying "oh we should just leave it" BUT this is only cos he found out it costs $1200 and he is a total tight arse. GRRRR I told him the cost has no impact on my decision, so he has shut up quickly!

    Dianne do you mind if I ask you a more specific question? Bearing in mind that I have no moral feelings against later termination. I am wondering if you ended Emmanuel's pregnancy, or if it was a natural miscarriage? Because I keep thinking, as well as the risk of miscarriage from the CVS, even if we didn't have it, I could miscarry later with a trisomy 13 right? PLEASE do not feel obliged to answer *heart*

    Muppity - Yes this is the question that keeps coming up... BUT even if we found out later, and were not going to terminate, I actually would prefer to know, so I was prepared for the ill baby etc. and was mentally prepared to lose the baby in the first year...

  7. #7
    Registered User
    Add ~clover~ on Facebook

    Sep 2007
    travelling
    9,557

    Talia - I have a close friend & my MIL who both birthed a baby with Trisomy 13. It is not compatible with life, but both made it to term.
    My friends DD lived for 6 days & MIL's DS for about 3 days.
    Neither of them knew til birth. My friend was young & didn't seek medical care very early, I think thats why she didn't know.
    My MIL never went back to her doctor again, because from his physical appearance it should've been picked up on an u/s, but she was not told in any way that something may be wrong.
    I just want to wish you well. I really don't know what I'd do in your situation. Can they do a normal u/s now & see if they can see any markers for problems now, before you decide what to do?

  8. #8
    BellyBelly Life Subscriber

    May 2005
    in the national capital
    1,682

    Sounds to me like you kind of know which way you are going to go. Given all that, I would want to knwo.

    Good luck