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  1. #1
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    Default High risk for trisomy 13 - 1:160 :-(

    With my first son, the trisomy 21 (downs) come back at the increased risk of 1:260. The other 2 more severe trisomy 18 & 13 were fine. I was worried the entire pregnancy but didn't want to risk the amino test and risk a miscarriage. I figured Down syndrome was not that bad should it turn out that way anyway. Luckily, our son was born perfectly normal and is now classed as 'advanced' for his age. Now, pregnacy 2 and my results for the scan have come back not good again. This time, trisomy 21 & 18 were sky high and in the thousands which is good. But for trisomy 13, which is the worst one, I have an increased risk at 1:160. After doing research, it seems trisomy 13 babies are lucky to survive past 12 months :-( My doctor has suggested a amnio test but I am scared of the outcome. I am worried about a miscarriage and scared that it may confirm the disease. I don't know if I would continue the pregnancy in it was confirmed. It is a terrible disease and not a nice life for the baby. But, I don't know if I could terminate either. I am very confused right now. Has anyone had an increased risk for trisomy 13? I have a friend who went through this as well. She had the amnio and all was good. Seeing as everything was fine with my son, should I not worry this time? How accurate are those nucal tests? Very concerned pregnant woman here, any advise would be nice. Thanks.

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    Hi Lisa, I haven't experienced what you are going through but couldn't read you post and not respond.
    It's a very tough situation that you are in, I really feel for you.
    I'm not sure if they offered you this when you had your scan but they offered me a blood test that was supposed to be very accurate ( as i wasn't interested in amnio, my results were good but they were trying to tell me as I was 35 I should have an amino). Anyway, there was a blood test that they offered, they said there was no Medicare rebate but it cost $1250. Maybe that's something non-invasive you could try and if the trisomy risk is still high, then you can make the decision whether you want to do the amnio?

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    Quote Originally Posted by BubblesK View Post
    Hi Lisa, I haven't experienced what you are going through but couldn't read you post and not respond.
    It's a very tough situation that you are in, I really feel for you.
    I'm not sure if they offered you this when you had your scan but they offered me a blood test that was supposed to be very accurate ( as i wasn't interested in amnio, my results were good but they were trying to tell me as I was 35 I should have an amino). Anyway, there was a blood test that they offered, they said there was no Medicare rebate but it cost $1250. Maybe that's something non-invasive you could try and if the trisomy risk is still high, then you can make the decision whether you want to do the amnio?
    Thank you. I have heard about this test and we will look into it I think. I have settled my nerves a bit today thankfully. Still worried, but starting to calm myself. Hubby doesn't seem concerned, he just keeps saying our DS turned out fine so why worry yourself over this.
    I know he is probably right, but I will still worry the rest of my pregnancy I think.

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    I had a 1/158 chance of downs and the way I looked at it was that if a doctor told me I had a 1/158 chance of getting cancer I would jump for joy. In other countries your not even considered high risk until under 1/100 and yes he doctors make it out to be the end of the world they have to, but I didn't worry and even now at 32 weeks I don't know for sure, but my extra scans for other reasons have been perfect. Do what you and hubby want to do, don't necessary listen to drs as I said I believe this is the one area that they totally over react on and def consider a extra ultrasound at around 16 weeks if your still worried, any soft markers might be more evident then

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    I have an ultrasound with a specialist next Friday at the referral from my GP. It is booked in as an amnio but I have told them numerous times I will not have one.
    So, they are going to do the ultrasound and go from there. If they pick up anything bad, I am worried they will push for the amnio though.
    Fingers crossed it will all be ok though.

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    I am going for an ultrasound next Friday at the request of my GP.
    She said if they do find something then we can discuss an amnio, although I have told them there is no way I will have one.
    Fingers crossed everything will look good and we can find out the sex too. Can't wait till January lol.

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    Good luck for the scan!


 

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