Genetic Screenings and Tests - Questions and Experiences - Page 2 — The Bump
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Genetic Screenings and Tests - Questions and Experiences

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Re: Genetic Screenings and Tests - Questions and Experiences

  • **TW**
    Me: 34 | H: 39
    Married Sept. 2013
    DS: Nov 2016
    MMC: 11/16/18 (9w6d)
    CP: 2/3/19 (5w3d)
    BFP!  8/24/19 at 12 DPO
    EDD: 5/3/19  *please stick, baby*


  • I don't know why I thought I'd be able to do NIPT with twins - it makes sense that it wouldn't be accurate. But I'm so disappointed. That was one of the few perks of being pregnant over 35.
    mercury94
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  • @ruby696 Aww, I'm sorry. I hadn't thought about that, but it makes sense.  Although are there still not certain things they can test for?  I understand why you might not be able to get sex from it, but I would have thought the other stuff could still be tested.  
    **TW**
    Me: 34 | H: 39
    Married Sept. 2013
    DS: Nov 2016
    MMC: 11/16/18 (9w6d)
    CP: 2/3/19 (5w3d)
    BFP!  8/24/19 at 12 DPO
    EDD: 5/3/19  *please stick, baby*


  • @shamrocandroll I'll definitely ask my doctor. It made me feel so much better last time knowing I was low risk. I feel kind of ridiculous being pissy that I actually have to wait till the NT and AS, like most people. I need to get over myself. 😆
    shamrocandrollmercury94
  • @yodamama I’ve heard that TriCare does cover the NIPT for women over 35. Might be worth a call to them or to talk to your doctor’s billing department. 
    ttcbabyodo
  • *lurking!
    @shamrocandroll So wonderful to hear! So happy that you have some clarity and a plan!  <3
    TW

    TTC #1 10 Cycles
    BFP 6/3/19 EDD 2/14/20
    Diagnosed with PCOS & Hashimoto's
    shamrocandroll
  • @shamrocandroll that’s such awesome information!!
    Me: 28   DH: 28
    Dx: PCOS
    TTGP: 9/2015
    Started at RE 5/2016
    *TW*
    BFP: 7/31/16  MC: 8/20/16
    BFP: 12/1/16   DD: 7/30/17
    TTGP #2: 6/2018
    BFP: 4/24/19  MC: 5/19/19
    CP: 6/14/19
    DH's Dx: low morphology 


    shamrocandroll
  • @shamrocandroll thanks for sharing! great information.

    another thing that isn't super clear to me is, we did PGS testing on our embryos before transferring them. I wonder if there's a case where even though they were rated as normal, something was missed or just not screened for.
  • I have never done genetic testing by my doctor's office seems to push for it. I guess if insurance doesn't cover it they have a deal with the lab that would make it $180 max (and we find the gender early which is cool). I am curious what peoples' experiences with it have been? Have you found it worthwhile? How likely are they to find that you are a carrier or a genetic issue? Have your significant others had to get tested if you were the carrier of a genetic issue (my doctor's office mentioned if I carry an issue gene that then my hubby would have to be tested to see if he does as well). It feels like a really weird door to open or road to go down. I don't think there is anything we'd find out that would make us not have the baby so part of me is scared to find out we are both carriers or a terrible genetic issue or that something could go wrong. 
  • @doctorcrime
    We opted not to do genetic carrier screening.  They test for a bunch of different things and depending on your heritage determines if you are more at risk of certain things as they stem from certain parts of the world genetically.  If you are not from one of these groups of people your chance of being a carrier is fairly low and then you AND your husband both have to be a carrier for it for it to even be passed on to the child.  My husband and I didn't feel we were high risk and didn't feel it would stop us from trying to have a child.

    If I were you I would ask for more information on what conditions they are testing for and the percent likelyhood that you may be a carrier.  You may read the list of conditions and realize that your aunt suffered from that or something in which case you may want to get tested.  You may read the list of conditions and nationalities and think none of it applies to you.

    NIPT is a different sort of genetic testing that looks at how the egg and sperm have combined and are now replicating cells and if there are anomalies.  
  • @doctorcrime I posted a long post a few posts back about NIPT vs traditional NT scan (ultrasound plus routine blood work) that you might find helpful.  The short answer is there's no easy answer to your question.  Each condition has its own statistics associated with the likelihood of detection, and a lot of that is based on your ethnicity.  I would speak to a genetic counselor about your specific case because it's definitely not a simple answer.  
    **TW**
    Me: 34 | H: 39
    Married Sept. 2013
    DS: Nov 2016
    MMC: 11/16/18 (9w6d)
    CP: 2/3/19 (5w3d)
    BFP!  8/24/19 at 12 DPO
    EDD: 5/3/19  *please stick, baby*


  • again, with NIPT you can look at the percent of babies that have these conditions in the population and decide for yourself if this is a risk level you are comfortable with.  For instance if only 1 in a million is born with a certain condition I'm totally ok not testing for it because the chances of me having it are slim, but if 1 in 10 babies have it, I might be more inclined to opt for the test.  
  • @ruby696 ; This is great input.  I think if my insurance covered it I would have jumped right in and had every test in the book.  It's unfortunate that potentially important medical decisions could hinge on cost and/or insurance coverage.  There are people all over the world that don't get the medical care they want/need due to costs and this is sad.
  • @ruby696 I agree with you. My husband and I were against *us* having the testing done based on the fact that we wouldn't terminate a pregnancy. (My own view for my own body and not my view for anyone else's bodies. that's not my business). After a friend had a very unfortunate situation that those testings might have better prepared her for, DH and I talked about how we might consider the testing just to have all the information readily available if we needed to make adjustments to birth plans, location, etc.
    ruby696pirateduckshamrocandrolllajoliedreamer
  • @TattoosandLace that made me think of something I hadn't really considered, and that is location.  My selected hospital isn't exactly equipped to handle unusual circumstances.  If there was a high probability my baby would be in the NICU I'd choose to deliver in the city two hours away instead of at my local provider.  hmm...
    shamrocandrollmdfarmchicklajoliedreamer
  • @pirateduck exactly. I hadn't thought of it either. My friend lives in Nashville and delivered in Boston due to her extraordinary circumstances.
  • @pirateduck exactly. I hadn't thought of it either. My friend lives in Nashville and delivered in Boston due to her extraordinary circumstances.
    Yes, I had a friend that knowing things were not perfect, delivered in the hospital across the street from the best children's hospital around where her infant when straight into surgery.  Her little girl is just fine now, but had they not planned on this, who knows how well things would have gone.
    TattoosandLacemdfarmchick
  • I was on the fence about doing NIPT, but after talking to a coworker who did it for her last two pregnancies I realized that it would be beneficial to have time to do the research and prepare if my child may have something and have decided to go ahead with it. I do need pre-approval from my insurance, but it should be covered. My midwife recommends not doing it until 10 weeks at the earliest so I’m hoping to schedule for around 11 weeks, though that depends on the turnaround of the pre-approval.
    m6agua
  • Found out today I’m a carrier of the SMA gene (spinal muscular atrophy) so next we need to get husband’s blood tested and meet with the genetic counselor. They called and told me over the phone and I was so shocked, now I have a million questions, I hope they schedule an appointment soon. 
    Anyone have experience with this?
  • @KaylaSadie I'm a carrier for SMA. We found out after doing genetic testing after several losses. Luckily, MH is not a carrier. We have two children and will probably have them tested as teenagers. If they are carriers, I want them to know before they have children, so their partners can be tested as well.
  • I am going in after 10 weeks for the “myriad” test. I might wait until 11 weeks just to be safe. My doctor sent the orders to the lab and just said “go between week 10&12”
    mdfarmchick
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