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  1. #1
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    Default Genetic Carrier Screening - worth it?

    Hi everyone,

    seen the OB and midwife yesterday (i'm 8 weeks pregnant today) and we mainly discussed screening options.

    While we are pretty confident about doing the combined screening for Down Syndrome and other trisomy; the Dr also mentioned (advertised?) a genetic carrier testing (called Repair carrier screening).

    It tests for carrier gene in the parents for cystic fibroisis, fragile X syndrome and spinal muscular atrophy. I was originally mostly against it but the more I read about the information they provide on their website the more the worrier side of me starts spinning.
    (https://www.vcgs.org.au/tests/prepair)

    While the chances of being a carrier are low (1 in 25, 1 in 150 and 1 in 40 respectively), the chances of passing it on if we are both carrier (or just me in case of FXS) are higher (25% or 50% for FSX).

    the test costs $385 and isn't covered by Medicare at all.

    Has anyone done this test before? Any OB have recommended it? Has it been worth it?

    thanks

  2. #2
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    I guess it depends on what you'll do if the test is positive.

    I declined all tests as it wouldn't have made a difference to me.

    But if you feel that you may be different or would want to know, then you might want to do it.

  3. #3
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    I did this test before becoming pregnant as an option from my FS at the time. Really just to set me up for if and when I fell pregnant. If they were high results, FS wanted to send DF. I think bc then if we went down the IVF route they could screen for these things.
    Pretty pricey from memory!
    My results all came back low, which is now a relief bc I'm expecting & it's just a few less things to worry about really.
    I look at it like would a high result have an impact on your decisions at this point in your pregnancy? Good luck with your decisions x

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    I wish I had been given the opportunity to do this. Our second child had a rare disorder that they never properly diagnosed, that was unsurvivable. We didn't find out until 20 weeks.

    I'd definitely get it. The ones you mentioned are not mild disorders. SMA is what nightmares are made of.

  5. #5
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    So sorry to hear Sally.

    Both my DH and I have some experience with mental/physical disabilities in our close relations so, yes it would make a difference if the tests came back positive.

    I am still debating whether or not to do this one, mainly due to the cost. But somebody has to be that 1 in so many, in which case $385 is maybe not that much to pay...

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    I wouldn't as it wouldn't change my decision to keep Bub. But on the other hand maybe as it would show if Bub may need testing in the future if symptoms arise.

    I'm currently waiting on fragile x results for my 2.5yo.

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    If I could afford it, then I would. Mainly just so that I could be prepared for when the child is born. Some conditions need extensive testing or surgery upon birth, so I'd want to be prepared for that. I'd also want to make sure that I had all the information I needed on appropriate care, and support systems in place. And if it was a condition that wasn't compatible with life, then I'd want to know so that I could prepare myself for that, and the difficult decisions that I'd face.

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    Default Genetic Carrier Screening - worth it?

    Error
    Last edited by MUG81; 15-04-2017 at 18:42.

  9. #9
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    I had that genetic screening test, my dh has a mild form of fshd and our genetic counsellor suggested getting it as we were going to do the cvs test....in the end we decided it didn't matter either way so never went ahead with the cvs.


 

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