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  1. #1
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    Default High risk for Down Syndrome/Amnio experiences

    Hi ladies sorry if this ends up being long or all over the place..I'm a bit upset at the moment

    I had my samsas blood test at 11+6 and my nuchal at 12+2. During the ultrasound the Dr made it clear they had nothing to do with handing out results and to wait until my hospital appointment...fair enough. So I go to my hospital appointment today and I was called in by a Dr not a mw so I knew something was up. She asked me if I knew why I was there and I stupidly said err for my first appointment? She told me that my gp should have called me to review my NT results so I had a support person with me for this appointment but true to form my useless gp hadn't said anything. Anyway she showed me a piece of paper showing me that I was high risk for Down syndrome but nothing else...the risk is 1:91. The whole appointment was a bit of a blur to be honest so I can't remember everything but I think she did say my ultrasound was fine it was just the bloods. She did a quick scan and baby was perfectly healthy bouncing around in there and even waved.

    So I have an amnio booked in because Dh and I have decided for our family that we need to know. The Dr explained that there are 4 of them who do amnios and the rate of mc is the same with all of them so a 1 in 200 chance of mc. I'm 14 weeks today so have to wait 2 weeks for the amnio and the 10 days for the results. She offered the harmony test but there is no way we can afford that She also mentioned the FISH testing aswell which originally I said we couldn't afford but I think we will end up finding the money for.

    So a bit of background....I'm 25 and have had 1 mc then two healthy boys which were very boring and uneventful pregnancies. I'm overweight...not sure if this matters but it was a question on the ultrasound form so maybe it matters? Down Syndrome Isn't in either sides of our family..can it be hereditary?

    The Dr was lovely and explained a lot, she even made sure she will be doing the amnio and all the follow up (this is in a public hospital). I pretty much bawled my eyes out all the way through the appointment, while making the amnio appointment and all the way out of the hospital I know everybody has some sort of risk but I was still so shocked by this news. Dh wasn't even there because I told him to look after the boys just incase the wait was long...I just didn't expect it

    So basically I just want to hear other people's stories about being high risk, did everything turn out ok? Am I just highly emotional or does everybody cry like that when getting less than desirable results? What are the chances that everything is ok? The Dr did say that I will remain high risk if baby doesn't have Down Syndrome because the PAPP-A results could indicate possible growth issues later on. Did you have any pregnancy issues down the track?

    Also for those that had an amnio I would love to hear your personal experiences. How did you get through the procedure emotionally? Physically? Did it hurt? I'm honestly terrified...I wasn't even this scared of giving birth

    I know there's lots on google and in here but I didn't want to google too much and do more harm than good. Plus I always prefer to hear the real life personal stories.

    Also I feel like the next 2-3 weeks are going to drag...how did you not let it consume you? I have two boys keeping me busy but I know It's just going to sit on my mind What helped you get through the wait?

    And lastly these are the results I got...Can somebody explain what it all means if possible? The only one she spoke about was the PAPP-A results so does that mean that was the only abnormal thing? Is everything else within normal range?

    1392802760300.jpg

    Thanks ladies I really appreciate your help

  2. #2
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    No advice, sorry, but I couldn't read and not post. I hope your results show you have a healthy happy baby on board. Xx


    Me, he and our two boys

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    Purple Lily  (19-02-2014)

  4. #3
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    No advice as I never ended up getting to have an amino before my bub passed away. I had a 1:2 for downs and a 1:4 for t13 and a 1:4 for t18. But mine was a combination of bad u/s and bloods. Nauchal fold was 4mm.

    A 1:91 chance means there's still 90:1 chance that bub is fine.

    Here if you need a chat.

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    Purple Lily  (19-02-2014)

  6. #4
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    Bumping for you purple Lilly... Crossing my fingers for you xxx

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    Purple Lily  (19-02-2014)

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    Hugs Hun xx

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    *hugs* you poor thing, you must be so stressed!

    I'm not much help with the results, but I had a similar risk rating and had an amino with my first. The procedure itself wasn't too horrible, I had a small local where they were going to put the big needle and that was the only painful bit. My doctor then used the ultrasound to guide where to insert the needle to get the fluid, it took about 2 minutes all up! No pain, just had to stay really still.

    Afterwards I couldn't do anything for a couple of days as per recovery instructions, so it's good to have a support person to look after kids, cook, clean etc. I found I was back to normal within 3 days and just made a conscious effort to not do too much for a week.

    I am so sorry you're going through this I hope someone here can help more with the other side of the results. Sending you massive hugs x

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    Purple Lily  (19-02-2014)

  12. #7
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    I'm so sorry to hear you are going through this.

    I had an amnio with my daughter and I was terrified. I think everybody is different as some say it wasn't uncomfortable, I found it quite invasive and uncomfortable and was very shaky afterwards, I went to get off the bed when it finished and found I couldn't, I just had to wait to the worst of the shakes went away.

    I went by myself and drove 60 kms home and went back to work for the afternoon, all stupid decisions, take a support person, don't drive home and rest for the rest of the day.

    I really feel for you PL and will be thinking of you and hoping you get a good outcome xxxx

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    Purple Lily  (19-02-2014)

  14. #8
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    Hi,

    We were given a high risk result for our DS of 1:21. Like you, the scan was perfect but the blood results gave the risk factor. The harmony test wasn't available then so I had a CVS. The testing and results were done within a week. The actual procedure was a bit uncomfortable but not too painful. I also found it a stressful experience and don't think you are being over emotional. Easier said than done I know but try not to stress too much, the odds are still very much in your favour.

    Our son's testing came back showing no chromosomal abnormalities. Because of low PappA I had extra monitoring in the third trimester including a growth scan. He was totally fine and delivered by CS at 38 weeks weighing just over 7lbs. He is now a very happy and healthy 2 year old.

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    Purple Lily  (19-02-2014)

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    I went through this. I was 1 in 76 risk for down syndrome... they actually called and told me while my partner was in having major surgery bad day. Anyway, this being my first baby and being in my early 20's I was shocked. I was extremely upset and it was a hard decision to have the amnio. I spoke to my dr, and they may be able to tell you their possible miscarriage rate, our drs was 1 in 400. I had the amnio, I even took one of his little socks and put it in my pocket when I went. Please take someone with you, you will need the support. Really take it easy the next few days after, bugger work, bugger the housework.... just relax, your baby is the most important thing. After a very long 2 days they called and said our little boy was perfectly healthy. Hes 6 months and sleeping in the next room. Everyones experience is different, I really wish you the best because its terrible to go through. I withdrew from all my friends from the stress. If you have any more questions or just need to talk to someone message me.

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    Purple Lily  (19-02-2014)

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    It's a shock to hear those words 'high risk'. My results were 1:110 but I had a CVS instead of the amnio.

    The results cleared DS of any abnormalities.

    I had low Papp-A and it did contribute to DS having to be delivered early, though there were other contributing factors.

    More often than not I hear stories where the low Papp-A didn't cause major issues in a pregnancy, which is reassuring.

    I'm sorry you are going through this, but as hard as it is not knowing, try to remember that the odds are very much in your favour.

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    Purple Lily  (19-02-2014)


 

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