1st Trimester

genetic testing

what are everyones thoughts on genetic testing. My next doctors apt will be the time that I need to decide whether or not to do it and was just wondering what peoples thoughts were?

Re: genetic testing

  • i would do it if it didnt cost us $1200, luckily the same tests are performed at our 18 week ultrasound and thats 'medically necessary' so i just have to wait. I have spina bifida so i want to see if my baby is at risk.

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  • i have mixed feelings about this..but have decided not to do the testing.  My first ultrasound will be the end of next week or the following week..depending on coordinating my husbands and doctor's schedules..ha ha! I can't wait.

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  • We did it. Our insurance covered it so we thought "why not"?
  • I don't know when your appt is but if you're talking about the NT scan, it has to be done by the time you're 13wks 6 days!
    Formerly known as elmoali :)

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  • Keep in mind not all insurance companies will cover NT scans or genetic testing as they aren't always "medically neccessary".  That being said DH and I opted out of all genetic testing as well as the NT scan.  At first my H wanted to do them so he could "prepare" himself if something was wrong.  For me if I new something was or may be wrong I would just stress and obsess which would not lead to a healthy pregnancy. And if something seems off in the NT scan or test results you will then need to do more evasive testing like an amnio to get more accurate results.  We were not willing to go through those tests as there is risk associated with them. At your 20 week scan they do a lot of measurments so some major things could be picked up then. 

     Whether or not to do the testing is a very personal decision.  Ultimately you need to do what feels best for you and SO.  Good luck!

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  • imageelmoali:
    I don't know when your appt is but if you're talking about the NT scan, it has to be done by the time you're 13wks 6 days!

    my doctor told me i can "opt" for the 1st trimester screening but the same things will be checked for at our 18 week appointment. I think i would talk to the individual's doctor to see exactly what is/isnt covered in that testing session. 

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  • We decided not to have genetic testing. We know we wouldn't want to proceed with more invasive tests if our screen came back 'positive', so for us there is no benefit.  Plus it is not something I'm worried about now.  Usually my philosophy is the more information the better, but in this case I just want to enjoy my pregnancy and if there are any problems I will find out eventually.
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  • I'm not sure what type of genetic testing you are referring to (NT Scan, CVS, Amnio).  

    We did have the NT scan done for our DS and we will for this pg too.  I need to be mentally prepared if my child is going to have special needs.  A friend of mine didn't have any testing done and found out after delivery that her son has Downs.  She still loves her son to pieces, but the initial reaction in the delivery room was sadness because he was ill and not the happiness that we all want to experience when meeting our LO for the first time. 

    ~Olivia~
  • I knew from the beginning that I did not want an amnio or  CVS because of the small risk associated with these procedures.  The other tests while accurate are not definitive so they can only tell you the likelihood of having a baby with a genetic disorder.  We just figured if we can't get a yes or no than we don't want to know.  Plus I figure there are plenty of things they can't screen for, so you might be told you are having a healthy baby when in fact that might not be the case.    
  • Even though our insurance covers testing 100%, we've decided not to do any testing.  It is not going to change our minds about this baby so we dont really see a point.

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  • We opted not to with DD since we have no known risk factors.  We'll likely do the same thing this time around. 
  • I had CVS with Emerson and it went really well.  I also had it with this pregnancy (twins) last week.  I had to fly out of state to get the testing on twins because there aren't many dr with the experience with twins.

    I did it and I'm glad that I did.  It worked out fine and as long as you get a dr that has a lot of experience doing the testing then, your chances of a problem are less than 1%.

    I'm assuming you're talking about amnio.  I had to have one of the twins done abdominally and it was rough but, only lasted about two minutes and then, it was over.

    GL to you!

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  • DS NT scan came back bad, so i had a CVS test.  all was ok, and I would not change it. 

    I will again get a nt scan for this pg, and if need a CVS test.  I live near Boston, the chances of a problem are less than 1 % up here.  It is stressful, but I would do it again.

  • We did the NT scan for my daughter and for this pregnancy.  I am glad we did it both times.

    My daughter's results came back at a 1/98 chance for Down's because of the blood portion of the test.  We were offered the amnio for further results but did not do it.  Instead, we waited for the 20 week ultrasound to see if there were soft markers of the syndrome.  There weren't and my daughter was born healthy and without Down's Syndrome.

    We already have the NT results from this baby and they are good.  We are waiting on the blood portion of the test.  I think that we will opt out of the amnio if they come up questionable again just like we did last time.   

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  • We met with a Genetic Counselor a few weeks ago to discuss this since both my parents have siblings with Downs. 

    We are doing a genetic screen at 10 weeks which will check my chromosomes to see if I am a carrier for the mutation for genetic DS (as well as checking for any other chromosomal abnormalities). We will also go ahead and do the NT bloodwork at 10 weeks so that we have it back by 12 weeks when we will have the actual NT scan. That will give us our NT scan results immediately (instead of having to wait if we had the bloodwork done then).

    Based on those results, we will decide at that point if we want to have the CVS done (it has to be done at at 12/13 weeks, hence our timeline).  The CVS does carry a risk of m/c so we will only have that done if the results of the other screens come back positive.  If they do not, we will wait and have an amnio done at 20 weeks (which carries a much lower risk of m/c than CVS). 

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