Fragile X/CF/SMA Tests — The Bump
Snarky and T-TTC

Fragile X/CF/SMA Tests

RE recommended we get these blood tests. They are $1500, but my insurance will cover them at 80%, which means they will be $300 oop.

Did you do them? Do you think it's important? Neither of us have any relatives with issues, so I would think our risk is low.

Re: Fragile X/CF/SMA Tests

  • As far as I know I didn't have those test and they weren't offered as an option.  I'm curious to see what the other ladies have to say.
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  • I got CF tested, but none of the others. Not really sure what they are.
  • I don't think I had any of those tests done.
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  • Our RE didn't mention any of those tests to use prior to our IVF.  So, we were not tested. 
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  • I am not sure about Fragile X or SMA (what does sma stand for?), but I know our RE did the CF screening as part of our initial testing.  So maybe he did all of them and we didn't know?  My insurance did cover them.  I think with CF if you are both carriers that can be dangerous. 
  • My RE tested for CF as part of my initial work up.  The others no. 
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  • I had the CF screening and it turned out I was a carrier so then dh was tested, too.  Fragile X?  As a special ed teacher, I've only ever come across 1 child with that.  Don't think I was tested for that or SMA (don't know what that is).
  • Yes to CF (Dh is a carrier), no to the other 2.

    Fragile X would have been interesting, as it's the most common cause of MR, but I don't know if I'd pay for it.

  • I don't think I got those since I don't even know what those tests are.  If you are low risk - it may be something you could skip (then again, keep in mind I'm not even sure what they are)
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  • Even if you're both carriers of CF, there's only a 25% chance of it being passed down. (That's my understanding, Mainer would probably be more knowledgeable about that one). I got tested for CF b/c my sis was tested when she was pg and was found to be a carrier (I'm not). We didn't do any other testing since neither of us has a family history of any problems.
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  • image shotzie:
    Even if you're both carriers of CF, there's only a 25% chance of it being passed down. (That's my understanding, Mainer would probably be more knowledgeable about that one).

    That's correct. We had DH tested for CF before we started TTC for obvious reasons, but our RE never mentioned any of the others.

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  • So I'm thinking it's safe to say I can save the $300?
  • Somehow they got ordered for my DH (we hadn't agreed, long story).  Turns out he is a carrier for Fragile X.  Well, let me restate that, he is in the "grey area."  He has mutations.  Significant enough for the RE to send us to a genetic counselor, not significant enough for us to do anything about it.  If we have a girl, she could end up with Fragile X.  It will be important for us to do CMV testing.

    We had not planned on any testing and in some respects I wish we hadn't.

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  • image Serendipitie:
    So I'm thinking it's safe to say I can save the $300?

    Most people aren't tested for these things before they TTC, so I don't think there's anything wrong with passing on the tests. I know, with CF, the odds of you having a baby with CF are like 1 in 2000 (I'm not sure about the others). It's a totally personal choice.

    I know on my CF message board there are some people with very strong opinions about those of us (with CF) who don't pay $2-3K to have our children genetically sequenced - there is still a very small chance DD could have CF, even with DH passing the genetic test. But we made the choice to save the $2-3K because we could spend ourselves into oblivion ruling out all the bad things that could happen to DD (and my CF doctor said it was ridiculously unnecessary :P).

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