January 2012 Moms

Genetic tests whats standard

At my first appt. my doctor mention a downs syndrome test and seeing a genetic counsler because I have beta thalessemia (or thalessemia minor) I have no family history of any abnormalities nor does my husband, my instinct is to skip them. I'm not sure what the "norm" is what are you all doing?

Re: Genetic tests whats standard

  • We didn't do any with our first.  Don't plan on doing any with this one.  I would definately ask what the risks are, because some carry a risk of m/c.
  • for downs its just a special sonogram not invasive havent heard the word "amniosynthesis" yet and don't plan on doing that either-my next thought is What am I going to do ( if anything) which any information obtained? you know?  Ive heard so many stories where women were advised to abort a pregnancy that turned out to be perfectly healthy so I say NO to testing! lol
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  • We aren't doing any.  Unless an U/S tells us that it's likely the baby is going to have a disorder (like downs) then I would consider having the tests done, but no matter what the test says I would only use it to help us prepare. We wouldn't use the info to terminate.  But I don't know if there's any "standard" genetic tests.  We didn't have any when I was preg with DD.
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  • My OB told me to check into what my ins. co. covers.  In doing so I found out they cover 2, not 1 u/s which I can use to cover the first tri screening.  I am thinking about it only because I am really excited to see the baby (It's my first), but I am going to talk to the OB and see if she thinks I should save that second one for later.  She told me that when I decide if I want the initial screenings to consider if I would do anything differently based on the results even just being able to take the time to prepare for dealing with the added challenges of potentially having a child with special needs.
  • imageSOON TO BE MRS. TARANTO:
    for downs its just a special sonogram not invasive havent heard the word "amniosynthesis" yet and don't plan on doing that either-my next thought is What am I going to do ( if anything) which any information obtained? you know?  Ive heard so many stories where women were advised to abort a pregnancy that turned out to be perfectly healthy so I say NO to testing! lol
    do you mean amniocentesis?
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  • If you're talking about the different tests for abnormalities, some drs do a nuchal translucency u/s between 12 and 14 weeks.  It's actually a combination of an u/s and blood test.  Some drs recommend a blood test that's a little later- more like 15 or 16 weeks (but I'm not 100% sure on that timing).  I've done the NT scan for both my previous pregnancies.  My insurance covers it and I love seeing the baby.  Plus, I like the idea of being able to prepare if something is wrong.
    DD- 7/22/07 DS- 4/22/09 DS #2- 1/11/12
  • We didn't do any with our first, but are considering the NT scan this time around.
    DS 5 years old
    DD 2 years old
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  • imageSOON TO BE MRS. TARANTO:
    for downs its just a special sonogram not invasive havent heard the word "amniosynthesis" yet and don't plan on doing that either-my next thought is What am I going to do ( if anything) which any information obtained? you know?  Ive heard so many stories where women were advised to abort a pregnancy that turned out to be perfectly healthy so I say NO to testing! lol

    *My* doctor said that the point of the tests was not to end pregnancies because of abnormalities.   The way she explained it to me made total sense as we didn't do testing with my pregnancy with ds.   

    Basically if you have high risk of downs during the testing they can monitor the baby more and if it is found the baby does most likely have it they will need to have you deliver at a high level NICU hospital with specialists at the delivery to check the baby over.   It is common for downs babies to have heart problems that need to be addressed at birth or soon after and you don't want to deliver at a hospital that is not prepared for a baby that has high level health problems.   Because if you do then you run the risk of them having to transport the baby to another hospital so while you are still recovering at Hospital A your baby is at Hospital B, you definitely don't want that if you can avoid it.

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  • I'd also only do any testing to be prepared in advance.  Some abnormalities can be addressed in utero, and some, like PP said, may need immediate medical attention at birth.  

    A while back someone posted this on facebook.  It's a really beautiful but sad story about a mother finding out her daughter had Downs syndrome at birth.  But be warned, I was a blubbering mess reading this before I was pregnant.  

    https://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html?spref=fb 

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