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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?
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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
Registered User
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
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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.
BellyBelly Life Subscriber
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.
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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...
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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?
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take care,
Kate
Registered User
Talia - In July this year I was given a 1 in 4 chance of having a baby with Trisomy 13. After much questioning we decided that we needed to know the answer outright as we had made a decision that we would not be able to proceed with our pregnancy if this outcome was not favourable. I chose to have the CVS procedure and my doctor was very experienced and also a gentle person who made me feel very relaxed. That was my main concern that the person doing the procedure had lots of experience and it was definately a bonus that he was a nice person too as I was a wreck that day. I think that I would definately have this procedure done again as I feel that in the right hands the risk of miscarriage is lower than the statistics state. However there is still a chance. If you need to know and you will be unsettled and anxious for the rest of your pregnancy without the procedure then I would definately suggest having the CVS. However this is just my opinion and as the others have said only you and your DH can make that decision. Good luck and I hope everything goes well for you.
BellyBelly Life Subscriber
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
Registered User
Talia, we were told that we would have to make the decision whether to terminate our pregnancy or not as Trisomy 13 is not compatible with life and Emmanuel had full Trisomy 13. It was definately the hardest decision we have ever had to make. We did decide that we would terminate as we didn't want Emmanuel to suffer any more but I actually went into labour naturally and delivered Emmanuel after 15hrs of labour. A very high percentage of babies with Trisomy 13 don't survive full term or if they do pass away not long after birth.
Regards,
Dianne
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Dianne, thanks for sharing your story.
And Talia, good luck with making your decision. It's not an easy situation to find yourself in.
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I didn't have to pay for my cvs or amnio. I went to a public hospital, which I think was good because they were very experienced. But the cost is really the least worry.
I'm wondering why you would terminate before 14 weeks but not after? You don't have to answer. I guess I'm just thinking that it would be really difficult at any point.
Initially we were told that our baby wouldn't survive pregnancy. At this point I was going to terminate because I thought it would be easier to terminate surgically rather than wait for the inevitable.
It does sound like you have made up your mind. And please know that whatever choice you make you have lots of support.
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Dianne, thank you so much for sharing that. I am sorry for what you went through.
Holly re. the 14 weeks - it's not a clear cutoff for me, but rather that the choice (cvs results vs amnio) means 12 - 14 weeks termination, versus 18 - 20 weeks termination, with nothing in between. For me, 18 - 20 weeks is just getting a bit late for me personally to feel is the right choice for me. Only because, I feel that if a baby can survive even for a little while after being born at 20 weeks, I would rather / may as well carry to term, and have the baby put on support and pain killers and get to spend some time with my baby, rather than delivering and the baby dying straight away.
Sorry I don't even know if that makes sense. And maybe it's a selfish or naive decision. But hey, when you're pregnant or a mother, you really just need to go on your own instincts to some degree, right?
I went to my GP last night, he is pretty anti getting the CVS. He thinks all this modern testing causes more worry than it's worth lol! He also said, "how would you feel if the CVS caused a miscarriage and the baby was perfectly fine?"
But I just keep coming back to the fact that, if I do NOT have the testing, I know I will be obsessively worrying for the next 6 months. I want to be able to enjoy my pregnancy...
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I just wanted to add that there is a big difference in terminating an early pregnancy to terminating later on. The procedure is different and after 20wks a baby receives a birth certificate and if they are not liveborn they receive a death certificate with also means a funeral. There is just so much to think about and Talia you are so right, you need to go with your motherly instincts. Your risk of carrying a child with Trisomy seem very low so I will be praying that you are carrying a very healthy bub. Please let us know how it all goes.
Regards,
Dianne
Registered User
Talia, your explanation makes perfect sense to me.
It must be so hard getting different opinions from different people, hard to work out what your own head is thinking.
First trimester screening (a blood test at 10.5 weeks and an ultrasound at 11.5 weeks) could give you more info on the pregnancy, and whether your bub is at higher risk of T13 based on physical markers. These results would be in before you would have your CVS.
So you could book in for the CVS, and use the results of the screening to help you decide whether to go ahead or not.
I have two conditions that my bub may inherit, but unfortunately (or fortunately?) genetic tests are not available. One of them may be able to picked up at 20 weeks, but the other is a waiting game. These conditions are not as serious as T13, but i have a slight inkling into some of the thoughts that might be going through your head.
I fought so hard to find a genetic test but was almost relieved when there wasn't one available, because i know how hard the decision to use the test would be.
take care,
Kate
Moderator
OMG, I can't believe a GP said that to you. How heartless. I would be changing GPs - you need someone so supportive in a time like this.
I've been in your position - for me the risk of miscarriage was outweighed by the knowledge offered by CVS. At the time of the procedure, our baby only had a one in 10 chance of being born "normal and healthy". If it wasn't a chromosomal abnormality, it could possibly have been a major defect in one of her organs (eg heart).
She's now a bouncing 8mth old who is an absolute picture of health but we chose the CVS because like you I would have stressed out for the rest of the pregnancy without knowing.
The other posters are right, a skilled practitioner will decrease the risk but its not measurable. The other thing to consider is one of the reasons the risk is lower with amnio is that amnio has been around longer and has been performed more - the risk continues to decrease the more CVS is performed.
Good luck - this is such a personal decision. I wish you all the best
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Ohh Oceanprincess, thanks for your reply - please don't worry, he is really the most lovely and nurturing care provider! The tone of his voice was most thoughtful and caring, and he said it with an arm on my shoulder - he was just making sure I was considering all the options.
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