Genetic Testing - Page 4 — The Bump
October 2018 Moms

Genetic Testing

124

Re: Genetic Testing

  • I thought CF was standard prenatal blood work? They carelessly missed it with my first until I was 26 weeks then I found out I am a carrier. They then tested DH and found out he is not and then they said it should be fine. Is that not the case for most CF screening? 
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  • ninji15 said:
    I thought CF was standard prenatal blood work? They carelessly missed it with my first until I was 26 weeks then I found out I am a carrier. They then tested DH and found out he is not and then they said it should be fine. Is that not the case for most CF screening? 
    Same.  I was mad that they tested me for it again with my 2nd pregnancy because I had it with my first and it clearly isn’t going to change... but my insurance did so that was an expensive, unnecessary test.  That being said, if this was my first pregnancy, I’d still get tested.  It wouldn’t change anything for this pregnancy for me, but if MH & I were both carriers, it may affect our decision about future children.
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    ninji15sammierose464
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  • @chopchop25 so we had to do the genetic testing for IVF and it tests for like 200 genetically linked diseases or some ridiculous number like that. That NIPT just tested for chromosomal abnormalities in the fetus and I think like 2 or 3 other things that since MH and I weren't carriers for we weren't worried about anyway. I can check more specifically when I get home though. Honestly, unless you are a risk group (African American, Jewish, Mediterranean or a few other groups), the probability of being a carrier/both of you being a carrier is low. 
    DS born Sept 2018 via IVF 2x
    DD born Feb 2020
    TTC #3 via IVF



  • KFrobKFrob member
    @chopchop25 Since neither of us are part of a risk group and neither of us have any family members with any sort of genetically linked conditions we decided to skip the carrier test.  There was also the cost factor.  My insurance covered a whopping $21 of the Counsyl NIPT test even though I'm AMA.   
  • KFrob said:
    My insurance covered a whopping $21 of the Counsyl NIPT test even though I'm AMA.   
    How generous of them! <eye roll>

    Thanks for the info, ladies!
    KFrob
  • I had the testing done even though I am not high risk. Everything came back normal. Yet I’m still extra paranoid until 13 wk appointment next week. I thought the test would ease some worry but it hasn’t. I can’t decide if that’s rational or not 
    tropical1982DunkinDecaf
  • KFrobKFrob member
    My test is in "clinical review" and I'm basically driving myself crazy today waiting for the results! 
    slizteesammierose464jellybelly114
  • So I keep trying to find out if Counsyl is covered. The billing office gave me the line of 'ohh it's like 30 codes and the Dr will refer you anyway.' Well, great, but I don't know if my insurance covers those 30 codes. Insurance won't give me any info at all without codes. 
    Not sure where to push back at this point or to just give in and hope I don't get stuck with a massive bill?
  • KFrobKFrob member
    @chopchop25 Counsyl seemed to have a bunch of options.  They gave us an estimate with insurance, then the cost without insurance, payment plans, and the opportunity to apply for financial aid.  The cost without insurance was $199 I think.  They made is seem as if you could chose to not use your insurance, they sort of gave the pros and cons of using it vs not using it.  I hope this helps!     
    chopchop25tropical1982
  • Thanks, @kfrob, that is very helpful! Did you call them before your appointment? Our genetic counseling meeting is after the u/s, and if we go with it they said they would just do the blood draw right then. Not much time to confer while we're there!
  • KFrobKFrob member
    edited April 2018
    @chopchop25 No, we didnt reach out first, we made the choice just to do the test since I'm AMA this time.  I was pleasantly surprised at how open and helpful the Counsyl website was.  The way our practice handles it is they refer you to the maternal medicine office at the hospital to do your NT scan and blood draw for the NIPT at the same time.  So we did that and were told we'd get an email from Counsyl if the results were good, other wise we'd get a call from the genetic counselor.  I have a friend who is three months ahead of me and she goes to a different practice who also uses Counsyl as well and she didn't get a choice to have the results sent directly to her, her doctor's office called her with the results.  So it seems like each practice is different.       

    Edit to tag
    tropical1982
  • Awesome, thanks @kfrob!
    KFrob
  • chopchop25chopchop25 member
    edited April 2018
    Sounds like we had very similar mornings @pumpkinpancake! Glad to hear all went well!

    Also had the NT scan, and blood drawn for Counsyl carrier testing and NIPT this morning. Went with the xy analysis, too. Initial U/S results were all good though baby wouldn't stop dancing around so took forever to get some good enough images. Cannot wait for the results and hoping for continued good news!

    U/S tech said baby was measuring 2 days ahead, which is awesome and closes more of the gap on that very first worry of being a week behind (though that's far behind us now) and HB was at 159. So that was all awesome news, too.
    Only thing that did come up was that I have an inverted uterus, so if that doesn't sort itself out in the next 2-3 weeks then we'll have to do some work to get that corrected. Doesn't sound fun but at least it's apparently fixable!
    slizteesammierose464KFrobdrb2424
  • I had mine today as well with similar results! @pumpkinpancake @chopchop25

    The tech said all the measurements looked good and that baby was measuring right in track with my due date. Heartrate was 157. I should get the results in a week. 

    We already recieved our Harmony results with everything looking normal. Now just waiting for that bill! Haha
    chopchop25slizteenayyohmeDunkinDecaf
  • @chopchop25 I have a retroverted uterus and the ultrasound techs and midwife seem to think that this isn’t a problem for me and wouldn’t need any treatment. If you don’t mind me asking, what did they say you should do?
    slizteechopchop25
  • chopchop25chopchop25 member
    edited April 2018
    @jenchoo Today's doc told to me that in most cases, they don't have to do anything. The baby's growth should help tilt things forward starting around week 12ish and on. So he just said that my normal OB should check it again at my next appt (~week 14 for me) to ensure it was moving that way (since I'm into week 12 and it has not started to tilt neutral/forward yet.)  And, if not and it looks like it's going to get stuck, then there's a couple of things they can do to help try to tilt it forward. Seems like it's super rare that intervention is required, though!
  • @jenchoo @chopchop25 I peeked at my dr's notes online and it mentioned that I "appear" to have a retroverted uterus. But they never mentioned it to me, perhaps because I was still in shock because that was the appt they removed my IUD after I found out I was pregnant, perhaps because it didn't matter-they still haven't mentioned it. I've had a couple US in the past pre-pregnancy and it was never mentioned to me either. My uneducated guess and google research lead me to believe it isn't a big deal. *TMI* but could explain why sex is usually painful for me, according to dr. google. go figure.
    chopchop25jellybelly114
  • @jemmerjams
    it could definitely explain the painful sex.
  • My OB off handed mentioned my uterus was super titled at my first ultrasound because it was hard to get a good view since baby was basically sitting on my spine. But didn’t sound the least bit concerned. Retroverted uterus is super common. 
  • Late to the party and just catching up on this thread.

    @cagncoo12 and @mariek312 did you end up doing the testing with Progenity? This is the company my office also uses and when I called they said each test was over $600! They did say we could call and have it reduced, if we qualified but of course they didn’t tell us what qualifies. We are nervous to do it and then get a $1200 bill and not qualify for the reduction. Insurance already told us they do not cover it unless we have risk factors and we do not.

    @chopchop25 and others, I also have a tilted uterus. They did not seem concerned, but i am happy to hear there is something they can do if it doesn’t correct itself. My doctor also said this was most likely the cause of my early back pain which has since gone away. I’m hoping that means it has begun to correct itself.
    Me:29 DH:30
    Married:10/2012
    TTC #1: 12/2017
    chopchop25
  • I just did my Horizon and Panorama genetic testing on Monday. They have a phlebotomist that works for the company that will go to the OB's office. I'm sure the cost is very high, but my OB assured me that I wouldn't pay more than $200 for either test, regardless of what was covered by insurance. I myself am a licensed health insurance producer in NJ and from experience, they aren't covered by most insurances, or they only cover a small portion of the cost. 

    It's always best to be transparent with your providers when you fear the costs of services. My first question when they offered the test was how much will it cost? My OB gives the contact info for their insurance biller on the first appointment and advised that I call her because we will be very close friends by the end of my pregnancy. lol

    results for the tests come in 10 and 14 business days. Can't wait to find out the results and the gender! 
  • I honestly have no idea what kind of testing I did, but my doctor drew blood at 10 weeks and said he has to do it again at 15 weeks, and then I'll get the results. I probably should have asked for more clarity, but this was what he recommended for my age (33) and risk factors and he squeezed me in for the first blood draw the day before he had back surgery, so I just went with it.

    Our insurance is through a small company that isn't common in our area, so no doctor we've spoken with ever has a clue about what our insurance will cover or won't. Good thing I like surprises?
  • @melbo444 that sounds like the sequential screen to me. That one combines two blood draws - one around 11-13 weeks and the second around 15-21 weeks. 
    melbo444
  • Ugh it’s only been 2 days since my blood draw and it feels like I’ve already been waiting forever. This wait is going to go by sooo slowly. ugh first world problems 
    chopchop25sammierose464
  • So I recently found out I am 22% European Jewish by taking an ancestry DNA test. Both my parents are adopted and I never knew my background other than potentially Irish because my mom was born there. So my OB has requested me take the ashkenazi panel test. I won't find out for another month if I'm a carrier of any of the genetic defects. Then we would need to test DH to see if he is a carrier. Waiting game sucks. 
    Me 33 DH 41
    TTC since 2016
    Due: October 12, 2018
    Location: Ontario, Canada

    mamabearcjchopchop25KFrobcdepperschmidt
  • @chyvie a month seems crazy! I had to do this testing and they said two weeks, so maybe yours will come a bit sooner!
    Annoyed because we got an email from Counsyl yesterday saying they received our samples and so results should be two weeks from that date. I thought it was two weeks from the date of our draw (Tuesday)...I already hate waitin and now this has tacked on another half week. Womp.
  • @chyvie I agree a month sounds like a long time! My friend had to do that test and it didn't take that long for results. Hopefully yours comes back much quicker!

    @chopchop25 that would make me nuts. I hate waiting as it is!
  • @chyvie - why aren’t they testing you both simultaneously?  That seems crazy to me.  
    KFrob
  • chyviechyvie member
    edited April 2018
    @knottieamusements because health Care is free here but it's slow! 
    ETA because it ate half my response: we would have to pay out of pocket if we wanted at the same time and it's like $500. If they find out I have a problem then it's free
    Me 33 DH 41
    TTC since 2016
    Due: October 12, 2018
    Location: Ontario, Canada

  • Annoyed because we got an email from Counsyl yesterday saying they received our samples and so results should be two weeks from that date. I thought it was two weeks from the date of our draw (Tuesday)...I already hate waitin and now this has tacked on another half week. Womp.
    I did my blood draw for Counsyl on Friday and they received it Saturday. I got an e-mail and it says it will be ready in a week "Now that we've received your sample, you can expect your results in approximately one week."  I wonder if it's regional and that makes a time difference?

    Also, I havent met my deductible so it's $750 if it goes through insurance or $200 if I pay cash but it won't apply towards deductible).  I wonder if I can pay cash and then submit it so it applies towards my deductible? Anyone tried this?

    Lilypie Pregnancy tickers   Lilypie Fifth Birthday tickers Lilypie Kids Birthday tickers
  • Thanks to everyone for the reassurance on the tilted/retroverted uterus stuff. I had my blood drawn on April 6th so this Friday will be 2 weeks. I saw the midwife last week and she just said soon. I know my nt measurement was 1.2 which she said was good but, like many of you, the waiting is so hard! I’m also anxious to see if I need further testing and we haven’t told people widespread about the pregnancy because we’re waiting on these results.

    I know there’s not many Canadians on here, but can you give me an idea how long you had to wait? I know my tests were sent to a larger hospital in mississauga for analysis. Do they call you only if there’s a problem? I’m going to call my midwife at the end of this week to see, but I don’t want to come off as too crazy when I know I should expect at least two weeks.
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