High-Risk Pregnancy

Genetic tests for SMA and Fragile-X

Hello. I am not necessarily "high risk" for the above conditions, but I am over 35 (so I'm high risk for other things). My OB sent me to a genetic counselor and they gave me information about the SMA and Fragile-X tests so I became interested in getting tested (I have no family history or specific reason to worry that I have these). So then I requested the tests through my OB but my insurance denied me. I'm willing to pay out of pocket but it seems difficult to figure out where to get these tests done and at this point I'm already over 21 weeks. Even if they were to find something unusual in the genetic test, then they would still need to do further testing (i.e. amnio) to find out whether the baby has it...and I don't even know if you can do amnio that late in pregnancy?? Seems like maybe it's too late in the pregnancy to even do any of this so I might as well just forget it. Chances are everything is fine anyway.

Re: Genetic tests for SMA and Fragile-X

  • I don't know anything about those specific tests but you can have an amnio at any time after 15-16 weeks.  I had one at 35 weeks. 
    Married 9/19/09
    Me (32) Dx PCOS, DH (32) SA = Normal/mild morph issues
    TTC#5 July 2017 - 3rd cycle TTC = BFP on 11/12/17 at 9dpo Beta #1 = 96 at 13dpo - Beta #2 = 207 at 15dpo
    TTC#1  starting Nov. 2009
    3 rounds of Clomid + TI and 3 rounds of 7.5 mg Femara + IUI before our BFP on 11/8/10 at 12dpiui
    TTC #2 3rd cycle of Femara 7.5mg+Ovidrel+TI = 4 follies = BFP on 10/12/12 
    TTC#3 July 2014 - Metformin +TI = BFP at 9dpo - Twins, one baby lost at 5.5 weeks 
    Macy Annabelle born at 37w4d on 4/29/15.  Diagnosed with Cri du Chat and passed away on 6/6/15.  Forever in our hearts.
    TTC#4 3rd cycle of Metformin + Femara 7.5mg+Ovidrel+TI = 3 follies = BFP on 12/24/16
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