Genetic/DNA testing: What to expect? — The Bump
1st Trimester

Genetic/DNA testing: What to expect?

Hi Ladies,

I am going in for a genetic screening at the end of next month (I will be at 15 weeks) and I wanted to know if any of you have done this and what it's like. I am pretty needle phobic and I was basically expecting a normal blood test. Is it more invasive than that? I know they've made a lot of advancements since the old Amniocenteses days but it would be good to prepare myself if it's gonna be a long multi-test appointment.

Also, how quickly do you get results after the test?

Thanks!

Re: Genetic/DNA testing: What to expect?

  • Depends, there are so many tests available today.

    All preliminary tests would be a simple blood draw. I think the term for the type of testing is called cell free fetal screening, because they use your blood and not your baby's blood. If one of those tests shows something, or causes a concern, you may go back for an amino or cvs, which a fetal cell test and are more invasive.

    It will depend on which test your dr is using as to what they are looking for, the basic is a test for trisomy 21 and 18. Mine is combined with an NT scan (done between 10.5-13 weeks at my clinic) that also looks for anatomical markers of 21 (down syndrome) and spina bifida. You should have a genetic consult prior to the actual screening where you can ask more questions, mine was the morning of.

    That is the extent of my knowledge - GL!  

    Me: 37 DH: 40 TTC since 9/09
    #1 BFP 1/10/11; missed m/c discovered 7w5d
    IF Dx: Endo, hetero MTHFR mutation, poor morphology
    #1 IUI: 1/18/12 = BFN
    #1 IVF/ICSI 4/2/12 = 2 x 7-cell and 1 x 5-cell transferred (3dt) = BFP!!
    H was born at 41w2d on 12/29/12 - be still my heart!
    #2 IVF/ICSI 1/19/14 = 2 x 8 cells transferred (3dt) = BFP!! EDD 10/09/14
    M&W born at 37 weeks on 9/18/14 - I am the momma of 3 boys!!!

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  • Ignore everything I just said. At 15 weeks you will be in 2nd tri. You may want to ask there. It is called the Quad screen. You can google search it for more info!
    Me: 37 DH: 40 TTC since 9/09
    #1 BFP 1/10/11; missed m/c discovered 7w5d
    IF Dx: Endo, hetero MTHFR mutation, poor morphology
    #1 IUI: 1/18/12 = BFN
    #1 IVF/ICSI 4/2/12 = 2 x 7-cell and 1 x 5-cell transferred (3dt) = BFP!!
    H was born at 41w2d on 12/29/12 - be still my heart!
    #2 IVF/ICSI 1/19/14 = 2 x 8 cells transferred (3dt) = BFP!! EDD 10/09/14
    M&W born at 37 weeks on 9/18/14 - I am the momma of 3 boys!!!

      Image and video hosting by TinyPicImage and video hosting by TinyPicImage and video hosting by TinyPic
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  • Thanks!

    Big relief that the test is so minor. Now I can focus all my anxiety on the results :)

  • If it's noninvasive genetic testing, it is just a blood draw where they will isolate your baby's DNA from your DNA in your blood sample and better assesses the risk (within 99% accuracy) of the baby having T13, T18 and T21. The sequential screen with your NT scan in your first tri and your quad screen in second tri isn't as accurate as cell free DNA testing.

    ***SIGGY/TICKER WARNING***

    TTC since September 2012 ~ DH(32): Non-obstructive azoospermia, Me(32): Normal

    10/13 - TESE found sperm!! ~ 11/13 - IVF w/ ICSI #1 ~ ER 11/23/13 ~ 10 R, 9 M, 8 F

    ET 11/29/13 ~ Transferred 2 beautiful hatching blasts, 5 frosties

    12/5/13 -  BFP!!! Beta #1 (12/7/13) - 189  Beta #2 (12/9/13) - 401 Beta #3 5871

    12/16/13 U/S #1 - TWINS!! EDD - August 16, 2014 ~ 7/19/14 - Our beautiful baby girls joined the world!

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