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Genetic Testing?

Last post 01-19-2008 4:10 PM by Photoguru7. 3 replies.
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  • 01-16-2008 5:29 PM

    Genetic Testing?

    We have a doctors appt in about 2 and half weeks, and at our last one they told us to read in a manual they gave us about the blood test for the possibilities of genetic abnormalities. If that comes back positive we would do an amnio...Anyway, my question is am I being crazy for being really scared about this? It would be helpful to know ahead of time, but then again, I think I would worry and be completely scared the rest of my pregnancy and not enjoy it. Has anyone else gotten this done? I guess i'm asking am I worrying about this too much?? This is the future of our baby...possibly. Since this is our first baby/pregnancy I don't know what to think, never been through this...any advice would be helpful!

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  • 01-17-2008 11:40 AM In reply to

    Re: Genetic Testing?

    I've opted to not have the testing done. My OB and I actually had a lengthy conversation about this at my first appointment. Well before I even considered it!!! According to my OB there is a pretty high chance of getting a false positive and then having to have the amnio and then finding out everything is ok. If that happens you could have a week or more of freaking out for no reason. DH and I decided that if there is something wrong then we'll just handle it. We wouldn't opt to terminate so does it matter if we find out now or later. Those are just our feelings though!

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  • 01-17-2008 9:11 PM In reply to

    Re: Genetic Testing?

    we wouldn't terminate either and thats what i'm thinking is that it doesn't matter when we find out and I've heard there is a small risk with amnio...so why risk it even more? Thanks for the input, i think we might opt out of it too...its just not worth the stress!

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  • 01-19-2008 4:10 PM In reply to

    Re: Genetic Testing?

    There are all different types of genetic testing out there.  Are you talking about the First Trimester Screening?  I've just completed that since I'm of "advanced maternal age".... 36....   I agree some of the other testing has a very high false positive rate with it, but the first trimester screening is different. <p>

    The First Trimester Screening tests via a blood sample & an U/S measuring the Nuchal Translucency (the fluid in the skin behind the neck)... the Blood test tests for Downs Syndrome (Trisomy 21) and Trisomy 18 only.  If these 2 tests only show your RISK or percentage of risk for the baby having one of these 2 chromosomal disorders, it's not a diagnostic test to tell you that the baby has it... it just shows the risk%.  If the measurement and the blood came back with bad numbers (there's a 95% true rate / only 5% false positive rate with this test) then you would have the option to do an amnio..... still it doesn't tell you if the baby has it, only an amnio which looks at the baby's chromosomes tells you what the baby has.<p>

    For my Age chart here would be my odds.... Downs = 1/220   Trisomy 18 = 1/460<p>

    Here's my blood test results   Dwons = 1/2,600   and Trisomy 18 = 1/10,000<p>

    The Nuchal Translucency turned out very small in measurement & great according to the Physician.  So I walked away from the test extremly happy.  Saying... "oh yeah these old eggs are still good"  Party!!!<p>

    I think this is a good test for older women and I figured if the numbers did come out worrisome & I would opt for an Amnio (which my friend had one with each pregnancy - no complications) & the test confirms an abnormality, atleast I will have time to process the information, get knowledge & know how to raise a child with that disorder before he/she came into the world...... but I'm a science person, I like to have all the information and then process it all & find a plan.<p>

    Some of the other testing along with the Triscreen does have a very high false positive rate to them... if the first trimester screening is done then the triscreen and quadscreen is unneccessary.  But what they don't tell patients well enough is that they're a screening test, and need to be followed up with something diagnostic.... and that if the patient is uncomfortable, or the information will not outweigh the worry, then they should opt not to have the testing done.<p>

    Good luck and remember, it's a personal choice with your baby's daddy and you what type of testing you have.... good luck and enjoy your pregnancy... it goes so fast!

     

     

    Christine
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