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  1. #831
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    Is it possible to get a second opinion from another geneticist to see if there's an alternative to just have scans and waiting? Or will the amnio give you all the info you need? It's just so bloody unfair, and to expect you to wait in limbo makes everything 100x worse (if it could make you feel any worse than you already do 😥)

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    Oh sally1981, I'm so sorry to hear your news. How far along are you now? Remember scans can be wrong. So try and be positive. Have you had an amino? Sorry I can't remember if I read that or not. If there was something wrong, would you want to terminate? If so, maybe they can start looking at options now. 32 weeks is nearly full term. No judgement Sally, just wanting to help. Big hugs.
    I'm having a 16 week scan tomorrow. I'm petrified. I've had low Pappa levels. They want to check the side profile of baby, that the chin isn't too small. I'm still waiting on my harmony test results. It is all so hard. Grateful though for this forum.

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    Quote Originally Posted by MissFaery View Post
    I'm having a 16 week scan tomorrow. I'm petrified. I've had low Pappa levels. They want to check the side profile of baby, that the chin isn't too small. I'm still waiting on my harmony test results. It is all so hard. Grateful though for this forum.
    Hoping for good news for you on your scan tomorrow.

    I have my NT tomorrow. Heard heart beat with Doppler at obs appt this morning which has made feel a bit better, hoping for more good news tomorrow.

  4. #834
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    Quote Originally Posted by Polly6034 View Post
    Is it possible to get a second opinion from another geneticist to see if there's an alternative to just have scans and waiting? Or will the amnio give you all the info you need? It's just so bloody unfair, and to expect you to wait in limbo makes everything 100x worse (if it could make you feel any worse than you already do 😥)
    Thanks Polly. This guy really is one of the top geneticists in the country and I do feel like he's giving me all the options. I've also googled the hell out of it and I think he's right about that at least. As for the amnio - he said a basic amnio will test for extra or too few chromosomes but will not test for mutations in the existing chromosomes. The syndromes we're looking at are mutations in the chromosomes. He's picked two chromosomes to look at specifically but it's not like we can test all of them because it costs per chromosome. It's a nightmare really

    Quote Originally Posted by MissFaery View Post
    Oh sally1981, I'm so sorry to hear your news. How far along are you now? Remember scans can be wrong. So try and be positive. Have you had an amino? Sorry I can't remember if I read that or not. If there was something wrong, would you want to terminate? If so, maybe they can start looking at options now. 32 weeks is nearly full term. No judgement Sally, just wanting to help. Big hugs.
    I'm having a 16 week scan tomorrow. I'm petrified. I've had low Pappa levels. They want to check the side profile of baby, that the chin isn't too small. I'm still waiting on my harmony test results. It is all so hard. Grateful though for this forum.
    Thanks Missfaery. I'm 19 weeks but measuring one week behind. I have had an amnio and if the issues turn out to be what they're investigating then I would terminate. Not a decision I take lightly of course. I want to start looking at options now because, as you say, 32 weeks is just beyond imaginable. Good luck with your scan, hon, and just remember that bad luck like mine is very rare xx

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  6. #835
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    Sounds like you are in good hands. Sending you strength and lots of prayers xxx

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    Thinking of you @Sally1981 xxxx

  8. #837
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    Hey sally1981, looks like I might be in the same boat as you, scan didn't go well today. Back to my dr on Monday then to book in for an amino. They found a few soft markers in my scan :-(

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    Quote Originally Posted by MissFaery View Post
    Hey sally1981, looks like I might be in the same boat as you, scan didn't go well today. Back to my dr on Monday then to book in for an amino. They found a few soft markers in my scan :-(
    Oh my god no! I'm so sorry. What did they find?

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    Well bub has a small chin but mouth and lips looked able to close. Nasal bone was present. They are worried about heart but four chambers were present. Bub honestly looked ok, half way through I thought it was all going to be ok. Oh and they said the kidneys were bright. Plus bubs toe was a big funny but I have funny toes, so it didn't concern me. She didn't say it looked like t18 which my nt scan was high risk for. But she wanted to do an amino then and there and hubby feels that maybe she was just pushing for the amino. I haven't even got my harmony test back yet. I'm seeing my ob on Monday (through the hospital antenatal clinic) so will go from there and they will book me for an amino I'm expecting. I'm just worried, I don't know how I'll hope finding out soe thing is actually wrong and the need to terminate, I don't know if I can at half way through a pregnancy..... :-(

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    Quote Originally Posted by MissFaery View Post
    Well bub has a small chin but mouth and lips looked able to close. Nasal bone was present. They are worried about heart but four chambers were present. Bub honestly looked ok, half way through I thought it was all going to be ok. Oh and they said the kidneys were bright. Plus bubs toe was a big funny but I have funny toes, so it didn't concern me. She didn't say it looked like t18 which my nt scan was high risk for. But she wanted to do an amino then and there and hubby feels that maybe she was just pushing for the amino. I haven't even got my harmony test back yet. I'm seeing my ob on Monday (through the hospital antenatal clinic) so will go from there and they will book me for an amino I'm expecting. I'm just worried, I don't know how I'll hope finding out soe thing is actually wrong and the need to terminate, I don't know if I can at half way through a pregnancy..... :-(
    Did they mention the skull? The strawberry shaped skull is a T18 thing, as well as clenched fists. I hope it's not that. Like ours, though, these seem to be very vague findings!


 

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