March 2012 Moms

Anyone freaked out about genetic testing?

This is my first pregnancy and I had an ultrasound today - 8 weeks 4 days.  I have to go back at 12 weeks to do all of the genetic testing.  Can anyone tell me about what happens and if i should be worried at this point?  Thanks! 
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Re: Anyone freaked out about genetic testing?

  • the way my doctor explained it, genetic testing is totally optional and I chose NOT to do it. 

    They can't force you to have those tests, but they are obligated to offer them.  Just say no thanks.

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  • Unless you have risk factors for genetic issues the testing is completelty optional (we opted out) and even if you do have risk factors you can still decline.
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  • I didn't want the tests, but my husband did, so we are doing them at our 12-week appointment (which is actually at 13 weeks because my doctor is on vacation the week before). They said they would measure the folds on the baby's neck (I think with the ultrasound) and I can't remember what else they do. If things look good, that's that, but if they don't, it's not a definite that there is a problem. I think at that point they do more testing.
  • We opted out of the genetic testing. Mainly because it doesn't matter to us if the baby has DS. We would not choose to terminate based on that.

    Granted I kind of wish we were getting that 12 week U/S that goes with the testing 

  • I wouldn't be worried.  I'm going to do it, just for the extra u/s.  It's not harmful, some blood work and an u/s.  If you don't have any genetic history problems, why worry at all.  Yes, sometimes there are false postives. but I'd rather be prepared if the baby need extra care etc.
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  • What happens is they take blood and do an ultrasound. The actual testing is nothing to be worried about. As PPs have said, some choose to skip this procedure.

    We opted into the testing for our son and will do it again. I would like to know sooner rather than later if there is a problem so I can make any decisions or preparations necessary, and I would not want to go all the way until 20 weeks to find out there was a devastating issue.

    DS 04.25.08 DS 03.14.12 missed m/c 9w1d :: 6.18.10 :: d&c | missed m/c 9w3d :: 11.2.10 :: d&c
  • Thanks ladies!  Seems like it doesnt hurt to do it and the extra U/S is beneficial! 

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  • With my first we opted out we will keep the baby regardless of any outcome anyway so why stress myself out worrying about it.  This time around because I want to have a VBAC my doctor recommended it because if there is a spinal problem with the baby they do not want me to try for a VBAC because of possibly causing more damage to the spine.  I am considering the testing because I really want to VBAC.
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  • DH and I are on the fence about it. Of course, the outcome wouldn't change our decision to keep LO, and knowing ahead of time would provide relief (if good news) or allow us to best prepare (if bad news). However, to be quite honest, if it was bad news, I would be so depressed/disappointed during the rest of the pregnancy, and part of me thinks ignorance might be bliss. I know that's a horrible thing to say, but it's how I feel. (Include this as my FFFC for today!)

    When it comes down to it, though, if insurance covers the cost, I may as well go ahead and do it. I have to get b/w done regularly to monitor TSH anyway, and an extra u/s would be fun.

    I know insurance does not cover the CF testing, which is a separate test, so we are opting out of that one as it costs A LOT!

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  • We decided not to do it, knowing we would keep the baby no matter what the outcome of the tests were. She told us 1 in 500 of these test end up in a miscarriage. (if the baby happens to move quickly when they have the needle in there, and the baby gets knicked by the needle) She said 1 in 500 meant it was rare, but 500 did not seem like a large enough number to me to risk it. She told us since we have few risk factors then there was a greater chance for a miscarriage then something being genetically wrong, even if both were rare.

     If we had more risk factors then I probably would have considered it.

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  • This is baby #3  and we turned down the genetic testing for the other two and plan on turning it down this time as well.  There's no risk factors in our family, plus the tests have a really high occurance of false positives.  Unless you need them, why put yourself thru the stress?  Your going to love your baby no matter what right? So why do they matter?
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  • I'm pretty sure we're going to do it. A girlfriend of mine recently had a special needs baby (hypo-plastic left heart syndrome, VERY rare) and found out pretty early in her pregnancy. She had to switch to a maternal-fetal medicine OB and they set her up with a great support system including other parents of children with the condition, counselors, etc. All of the support helped her and her husband thoroughly and mentally prepare for their daughter's arrival. 
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  • The thought of potentially finding out about a problem is scary, but we are still doing it. I've heard more stories recently about things getting picked up during those scans that I would definitely want to know about. (I'm not talking about DS...more things that are potentially life threatening, etc.)
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  • Insurance covers the bloodwork and u/s for me.  I was on the fence, and DH said to go for at as long as it's not invasive.  Since they only do an u/s and bloodwork, there's no danger unless the results come back abnormal and you need to go for an amnio.

    IF there was a definitely problem, I'd rather have an opportunity to education myself as fully as possible and obtain any resources I would need.  I understand why people choose not to get it done, and I realize there's a chance at getting a false positive, but for us I think it's the right decision.

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  • DH & I already did the cystic fibrosis testing, we did it back before TTC because my brother has it and it was covered by insurance. As for the other stuff, maybe. We don't have medical history for DH's family because he's adopted but I know my family has no history of genetic disorders other than CF. I had a second cousin with Down's Sydrome but he was adopted.
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  • We decided to do it.  Its optional and there were two different types that they offered us.  We just went with the first one thats done at 12 weeks.
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  • We did it last time and had a false positive.  I opted out of the amnio, b/c I didn't want to take the risk of a m/c.  I did get a couple extra ultra sounds and they were able to put my mind at ease. 

    This time around I don't think I want to do it.  I don't want to go through that worry again.  However, I am sad I am going to miss the 12 wk u/s.

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  • imagereneenearl:

    We decided not to do it, knowing we would keep the baby no matter what the outcome of the tests were. She told us 1 in 500 of these test end up in a miscarriage. (if the baby happens to move quickly when they have the needle in there, and the baby gets knicked by the needle) She said 1 in 500 meant it was rare, but 500 did not seem like a large enough number to me to risk it. She told us since we have few risk factors then there was a greater chance for a miscarriage then something being genetically wrong, even if both were rare.

     If we had more risk factors then I probably would have considered it.

    You are talking about a CVS or amnio, which is different from the typical first step nuchal scan. The nuchal scan is a finger prick and an abdominal u/s. There is no needle near the baby.
    DS 04.25.08 DS 03.14.12 missed m/c 9w1d :: 6.18.10 :: d&c | missed m/c 9w3d :: 11.2.10 :: d&c
  • As others have brought up there are all kinds of tests out there. We werent exactly sure which one our dr would do. She said theres was blood work and u/s involved. After research we decide against it. I see the side of if something is wrong it would be good to know, but I think I would worry so much and the tests are 90-95% accurate so there is still margin for error. Its a hard choice to make.
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