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  1. #11
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    Thanks so much for sharing your stories ladies I really do appreciate it and it makes me feel like i'm not alone We should definitely keep each other updates on our progress !!
    Newbie you sound as though you are in a very similar position to me my levels were extremely low also but our scan was fine - although the genetic counsellor stressed that sometimes defects are not visible at the 12 week scan.
    Just an update I called the genetic counsellor back yesterday to have a more calm and rational talk with her minus me being a blubbering mess because a few things that she had mentioned didn't sit right with me. She confirmed that her concern for our baby based on our blood results was more for a chromosomal abnormality called 'triploidy' which is a condition that is 'incompatible with life' because babies have 3 sets of every chromosome. She stressed that IF the baby had any problem she thought it would be that however that is still a big IF. Like you newbie she also mentiond that if it wasn't a chromosomal abnormality my blood levels suggested that my placenta wasn't functioning normally and I would be monitored closely for the rest of my pregnancy as this is associated with IUGR and pre-term delivery / still birth.
    As heavy as all that information sounds I am feelin better about it all because I have clear and realistic expectations of what is coming next, I am still holding out hope that the amnio will show no problem and that by some miracle my baby will be unaffected or at least will grow well enough in utero to a point where it is safe for he/she to exist in the 'outside world' however am prepared also for the possibility of bad news.
    We have decided to go ahead with the amnio because the syndromes that they are suggesting we have are considered to be fatal whereas many downs babies are able to live happy and fullfilling lives (though I might still have opted for it with a high downs risk in order to prepare myself better). And I will definitely be asking for the FISH testing which comes back in 48 hours as both Triploidy and Edwards will show up in these results.
    Like I said I totally appreciate you all sharing your stories and will def update you on our progress in the coming weeks. Fingers crossed for all of us !! xx

  2. #12
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    mlks I didn't really feel pregnant until the second half of the pregnancy so try not to stress too much about that. That is just the way it is for some of us. It is also only natural to stress about everything when you have been trying for years. I am sure the doc would have ordered another scan if it was necessary.

  3. #13
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    newbie just wanted to send you hugs. I wish you all the best getting through this process.

  4. #14
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    Mummabear - I totally get where you are coming from.

    With my first pregnancy I was high risk for DS. This however is totally different to one of the other trisomy problems where the child is not expected to survive. A child with DS has a better chance at an ok quality of life, where sometimes with these other issues eg Trisomy 13, it may be kinder to terminate.

    We decided not to have an amnio for us as the risk outweighed our benefit. We would not have terminated a DS baby - just our own thoughts - no judgements on others. However, my thoughts may have been different if our issues were with the other trisomies.

    The amnio will give you an idea how you will deal with this, and if you test positive, you can make your decision with clear understanding.

    Here is something to try and ease your mind until the amnio, however.
    Imagine a massive container. In it you have 275 white golf balls. There is also 1 red golf ball. Reach in with your hand and pull out a ball - what colour is it??

    While the risk is always there, you still have a pretty good chance all will be ok.

    HTH. That analogy got me through until my 20 week scan where the risk was adjusted for me. I really hope all will be ok for your bubba.

  5. #15
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    Quote Originally Posted by mummabear1405 View Post
    Hi There,

    So I'm looking for support and stories from people who have been through a similar experience to me.
    we were a high risk for a trisomy 18 baby (edwards disease).
    She has advised further testing and we have decided to go with an amnio however I have to wait 3 whole weeks to have the amnio because I'm too early for it and then another 2 weeks for the results!
    This is not how I expected to be feeling after the scan today and I am just absolutely shattered. Appreciate the sharing of any similar stories
    Hello,
    My story is a little bit different to yours but possibly with a similar result. I had my NT scan at 12 weeks and got a 1:12 risk of T21. I wanted a CVS immediately but the Ob I was referred to wouldnt do it because he didnt think they're reliable. So I had to wait the extra couple of weeks for the amnio.
    It didnt really hit me at the time the sonographer told me, it took a few hours til I was home on my own and then I think I cried for 4 days. I came on here and got some great advice from a lot of women but the majority kept telling me everything would be alright and I still had a 11 in 12 chance that the baby will be 'normal'. For some reason I always knew in the back of my head that the results would be positive. Anyway after doing a lot of research both on keeping a baby with special needs, and abortion, and an awful lot of crying and 'why me' and 'how did this happen' someone pointed me in the direction of a website that quite literally changed by life and my mind. By this point I didnt see the need to go through with the amnio because I (and my partner) had already made up our mind to keep it regardless.

    Anyway we did go ahead with the amnio, just for clarity I guess more than anything, although we got virtually no information from the Ob or recommedations for counselling. I had the amnio done on the Tues and the Ob rang me at home on the Friday. When the most expensive private Dr in town rings you himself at home you know what the results are going to be Anyway, he delivered "I've got bad news" and that probably hurt more than the actual news itself (needless to say he is no longer our Ob)
    We're just over half way now and we've since found out our little girl has even more complications than the original diagnosis and to be honest there's some moments when I question my decision but they're very few and far between.

    I guess what I'm getting at is that I fully understand the place you're at at the moment but I just want to assure you that it will get better once you've got your head around it. Its probably the worst news any woman wants to hear but hay sometimes sh*t just happens and we've gotta deal with it. I just want to let you know that you're not alone and there's people here to help you and listen to you and comfort you.

    What you decide to do with your pregnancy is entirely up to you and your partner. If you decide to proceed with your pregnancy and your baby does have a genetic condition, its not the end of the world, its just a different picture than you originally thought. Try to stay away from the Google and other so called expert opinions until you know what you're dealing with. Sometimes having too much information is not a good thing because it might not apply to your unique situation.

    Take comfort and strength from your partner and your family and friends. They might not know exactly what you're going through and sometimes they dont say the right thing, but they mean the best. There is also a forum for mothers in this particular situation which I will private message you. If there's anything else I can help you with or if you just want a shoulder, please message me at any time. I know it feels like it at the moment, but you're not alone

  6. #16
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    Thanks fir sharing your story change my mind I have so much respect for the decision you have made (though I am definitel pro individual choice on the matter also) will definitely check out the website you suggested. Moon gazer I love your analogy too will def help give me hope in the couple of weeks I still have t wait until the amnio.

    Has anyone who was waiting on results received them yet? My amnio isn't for another 2 weeks what a horrendous waiting game lol x

  7. #17
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    Hi, I had my NT scan and while everything anatomy wise looked perfect, the fluid measured a little higher than they like (2.4) and my blood test wasn't amazing, putting us in the high risk category for Downs Syndrome (1/285).
    We went to the OB straight away and he recommended a CVS as I was 12 w 3 days. I wanted to know as we would terminate and didn't want to wait til Amnio.
    We had the CVS the day after the NT scan (my OB is great) and had a hellish wait for 24 hrs to get results. Thankfully nothing wrong, all looked fine and we are having a girl Probably the worst few days of my life, though. I know how hard it is and I wouldn't wish it on anyone. Somehow you find the strength though, and you do what you need to do.

  8. #18
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    Mummabear -how did you go with your amnio back in july? Im in exact same boat as you. bad blood test results on same two tests as you. I have also had elevated heart rate since 7.5 weeks (been having weekly scans) and also the gestational sac is not growing as it should, and dr also mentioned placenta problems in me. Hoping you had positive news and you now have a healthy baby xx

  9. #19
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    Hi Angenrod,

    I wish I had better news for you but unfortunately in our case the amnio confirmed that our baby had triploidy which is completely incompatible wit life and we lost our angel a 17 weeks. I will say that it is a very rare and completely random condition whic at the time I took comfort from knowing however I haven't found the strength as yet to ttc again. I really hope that for you the outcome is very different and you are blessed with a happy and healthy new addition to your family.

  10. #20
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    Quote Originally Posted by mummabear1405 View Post
    Hi Angenrod,

    I wish I had better news for you but unfortunately in our case the amnio confirmed that our baby had triploidy which is completely incompatible wit life and we lost our angel a 17 weeks. I will say that it is a very rare and completely random condition whic at the time I took comfort from knowing however I haven't found the strength as yet to ttc again. I really hope that for you the outcome is very different and you are blessed with a happy and healthy new addition to your family.

    Sorry to hear your little angel got his wings too early. I'm sure these challenges have changed you and your strength will be inspirational to your family, friends and others on this forum.


 

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