June 2011 Moms

The geneticist called...

We've had tons of genetic testing, due to a combination of being Ashkenazi Jews and being with a practice at a teaching hospital.

The geneticist just called with the results of our second trimester set of testing (where they use the same info that they collected at the first trimester, but run different tests...  not sure why, but anyway...)

Most everything is good, but we have an increased risk of the baby having an extra sex chromosome.  Luckily, the potential problems are non-life-threatening, mainly potential infertility and some learning problems.  And the odds still aren't great.  The general population has a risk of 1-in-230, and my baby has a risk now of 1-in-130, so still under 1%.

But still, now I'm worried about it!!!  And we won't even find out until after the baby's born, or maybe not ever.  (Could do amnio, but it seems like a bad idea to do any procedure with potential risks in order to identify a problem that isn't life threatening, I think.) 

I wish I hadn't had the testing now!!   Knowledge isn't necessarily good!

Anyone have similar experiences? 

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Re: The geneticist called...

  • sorry hun, havent had similar problems but totally can understand your feelings about maybe not wanting to have known now and not wanting to do an amnio...trust your gut...I always do.
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  • this is one of the reasons I opted out of the genetic testing, we didnt have anything in our histery that would make us want to and knowing we wouldnt do amnio to confirm these my dh and I said no its not worth the un needed stress it would create
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  • Well mine is sort of similar but I have a 1/232 chance (I know almost half percent - but it freaked me out) of having downs.  I was alarmed until my husband told me that whatever it is we will deal with it.  This is a big change from his initial "I can't deal with a special needs child".  That being said I feel no need to have more testing.  What will be will be.  I think your odds are great and I would roll with it.  Best wishes to you and yours. 

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