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  1. #1
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    Default Amino test at 33 weeks?!

    Hello, just wondering if anyone has had an amino late in pregnancy. The result won't change the outcome for me but having a 12 month old & being due in 7 weeks, I feel mentally I need to be prepared for what's ahead. Our baby has a heart defect & possible growth issues, indicating Down Syndrome. I did the harmony test & came back low risk but then the Dr made a comment that there's risk of false negatives & that I won't know without an amino. Been advised its not a miscarriage risk at this point in my pregnancy but rather a premature labour, which comes with it's own risks! I think I want to do it but looking for other stories, I'd hate something to go wrong

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    Hi. I hope it's okay to reply. I was offered an amnio at every scan. ... After my 20 week one. .. which was every three weeks!
    Like you my baby was diagnosed with a heart defect. ..And had growth issues. They just kept an eye on her.... And I didn't do the amnio because I knew it wouldn't change the outcome only to perhaps prepare us for the future.
    May I ask what is the heart defect? I hope you are traveling okay. Such a huge thing to happen .

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    After a traumatic first birth... I want to be prepared if something about my baby isn't normal or I'll be stressing the whole labour which isn't something I want to go through again.

    Our baby has aberrant subclavian artery

    How about your baby?

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    Hi. I can understand. When my daughter was born all I kept asking over and over was 'is she okay? Is she okay? '
    I'm sorry I haven't heard of that defect..I did a quick Google to try and understand. My daughter has hypoplastic right heart syndrome and tricuspid atresia. She's only has half a functioning heart. She also has smith-lemli-optiz syndrome which affects a lot of different things like growth and feeding and development. That said she's currently like any crazy 2 year old! Loves a good tantrum! Lol loves playing. .. Running away from me. .. goes to daycare.
    She's a little miracle.

    You must be very stressed. I understand how traumatic a serious diagnosis is during pregnancy. I don't understand the condition you've described but I'm here if you need to talk. xx

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    Thanks it is so stressful & after going through IVF for our first, I'm feeling very ripped off! It's very confusing... So many different opinions! I've also been told that as far as looks, they might not be able to tell if the baby has DS for a few hours due to normal swelling most babies have... How do I just sit there & wait not knowing?! I'm nervous about the heart although all looking okay for the moment

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    I wish I had an easy answer for you. I can really only share what happened for us.
    We kept getting told during the pregnancy after the heart defect was discovered that it was very real possibility that the baby also had another issue. I just lived in a kind of denial...swinging between optimistic hope and the kind of depression and sadness and anger that leaves you either in bed or wanting to break some dishes!
    After dd was born I just wanted to cuddle her and love her and protect her. Further suspicions at about 2 weeks old sent us for a specific blood test to see if she had a particular syndrome. At 4 weeks old we were back in hospital when she went into heart failure. Genetics team visited us to do a full work up and then blood test came back and confirmed it was Smith-lemli-opitz syndrome.

    I tell you this because even though it's been hard... emotional... so many highs and lows. ... But now we are 2 years down the journey and my dd is just amazing.
    You just take it one day at a time. .. Sometimes one moment at a time. .. One foot in front of the other. There is much hope.

    Sending you positive thoughts and prayers and hoping for the all clear with your little one. Also. ..I have many many friends in the 'heart defect' world. And all of them. . Their kids... All 'just' have the heart defect. And no other chromosomal abnormalities.

  7. The Following 2 Users Say Thank You to Tamtam For This Useful Post:

    HollyGolightly81  (08-01-2015),kioka  (12-01-2015)

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    I wanted to add a picture for you too. This is my daughter on Christmas.
    Attached Images

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    She's so cute... I love the Santa outfit!


    And yep, that's all my feelings... So up & down I just want the baby out so I know what I'm dealing with. They are worried if I do the amino that I'm opening up another whole can of worms as we may find something else wrong that they are not familiar with! The unknown is the hardest part.... I just want to do the amino so I know (I've been told I'm more at risk of pre term labour than a miscarriage) but I get this thought in the back of my head... What if something did go wrong, could I ever forgive myself?

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    Such a difficult decision. Big hugs. I wanted to know what I was dealing with too.
    I was scared of the procedure of an amnio too.... I'm a very anxious person with medical stuff.
    My daughter's syndrome is quite rare. ..And we and the Dr's are a bit blind at times but somehow we muddle through. and she's doing so much more than we ever thought possible.

    How many weeks are you now? They can still do the amnio? What would they look for with it?

  11. #10
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    I'm 33 weeks today!

    I want to go into labour excited about if I'm having a boy or girl... Not wondering if when it comes out its going to have problems with the heart & have Down syndrome. I even thought the second the baby was born they could tell me but apparently not always the case... Could be hours before the newborn swelling goes down before they know.

    I believe mainly all the trisomies & possibly other syndromes. Dwarfism was mentioned also although they think very unlikely...


 

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