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Genetic testing

Mkherren12Mkherren12 member
in High-Risk Pregnancy
Ok ladies I'm about 8 wks with #2. Dd has Down syndrome and husbands family has a history of genetic issues. What test(s) would you recommend? I'm not a fan of testing just to find out I'm a high risk for -----. I'd rather know for sure but I'm also not a fan of an amneo. Thoughts suggestions?
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Re: Genetic testing

  • pennstated912pennstated912 member
    I did a sequential screening at 12 weeks. It is two rounds of blood work and an ultrasound. It tests for downs, trisomy 18/21 and NTDs. My MFM suggested it saying it is over 90% accurate.
    Dave and Kathleen - 09.12.09:
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  • DahliaFlowerDahliaFlower member
    At a minimum, you could do a free fetal DNA test (like MaterniT21 or Verifi) at 10 weeks to screen for trisomies and sex chromosome abnormalities.  It is a blood test on mom, so totally non-invasive for baby.

    Beyond this, you could do NT ultrasound test at 12 weeks, and then check anatomy at 20 weeks. Both non-invasive.  

    Best wishes with your pregnancy!
    TTC #1 12/2009
    BFP #1 1/2010, M/C 6 weeks
    BFP #2 6/2010, DD lost to     congenital heart disease, we are heartbroken.

    TTC #2 4/2011, diagnosed MTHFR, FVL
    Four natural cycles BFN; Clomid IUI BFN; Follistim IUI BFN;
    1/2012 IVF #1 BFN
    4/2012 FET BFP #3
    5/2012 7w1d u/s: anembryonic demise; M/C @ 8w.
    6/2012 found Stage II/III endo on laparoscopy, removed w/ laser.
    8/2012 IVF #2 epic fail: no viable embryos.

    Vacation, break, second opinions, on to new RE.
    1/2013 Surprise chemical pregnancy BFP #4 (break cycle), IVF #3 postponed.
    2/2013 TI w/ hormonal support, prednisone, aspirin, Lovenox, acupuncture gave us a miracle BFP #5!
    Heartbeat on U/S at 6w1d!     Baby,please stay!!
    Our miracle baby boy arrived 10/2013!  We are so in love!!

    10/2014 Surprise BFP #6
    Our second daughter arrived in May 2015!  We are so grateful!  

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