December 2018 Moms

Genetic Testing Results Thread

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Re: Genetic Testing Results Thread

  • @scaredunprepared congrats on the good news!!
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  • @scaredunprepared YAY! I'm so happy to hear!
    *Loss 8/2014*
    *Rainbow 8/2015*
    *Expected Rainbows 12/2018*
    *Loss of Twin 5/2018*

  • @rosebud332 thanks!  Yes, definitely the news we were hoping to hear!
  • @scaredunprepared Awesome news, yay! You must be so relieved!!!
  • @maureenmce Thank you, yes, very relieved!!!
  • @scaredunprepared That’s wonderful news!! So happy for you and your LO!
    Pregnancy Ticker
  • @hbmama21 thank you so much!!!
  • edited July 2018
    @texas_t thank you!  We are thrilled! 

    @Katzalia thank you!  

    Sorry for the double (or quadruple) posts. For some reason, I missed a bunch of your responses earlier, and I don't want to seem like I'm ignoring anyone because your support has been incredible and much needed!
  • hello all,

    I just got a call from my doctor that me AFP came back high risk for spinal bifida.  I was at my specialist on Friday for ultrasounds and she said everything looked fine, blood test was done on Saturday. My ob is not worried since the specialist didn't see anything but that's not sitting easy for me so I am hoping I can see or talk to her tomorrow (office closed today) about the ultrasound.  Its going to be a long night for sure!

  • @babyluv1234 Good luck! Prayers it is a false positive.
  • @katy0990 thanks! I will update tomorrow if I can get in with the doctor.
  • @echo-charlietango and @shygirl88 I'm so happy for you both that all came back negative!  The wait is killer. 

    @babyluv1234 I really hope it's nothing. Did they give you any numbers?  Sometimes what they consider "high" is still lower than 1%.  If they didn't see anything during the ultrasound I would try not to worry too much.  I know it's easier said than done, but try. And waiting to see the doctor and get answers will seem like forever. No sugar coating that. Try to relax if possible. 

    At risk of sounding dumb, what is AFP?  Obviously it is a genetic test but what does it stand for?  

    On a personal note, at my blood draw today for part 2 of my sequential screen, my nurse reviewed the results of part 1.  Low risk for trisomy 18 and 21!  But she said those numbers aren't "final" until part 2 results come back.  Part 2 tests for spina bifida and trisomy 13 in addition to retesting for 18 and 21.  Hopefully all will come back low risk.  Now, WAITING.  7-10 business days is so long. 
  • @scaredunprepared From the Googlemachine "Alpha- fetoprotein (AFP) is found in both fetal serum and also amniotic fluid. This protein is produced early in gestation by the fetal yolk sac and then later in the liver and gastrointestinal tract. ... High levels of AFP may suggest the developing baby has a neural tube defect such as spina bifida or anencephaly." So it's just another screen, not diagnostic :smile:
    NTNP since Dec 2012 | TTC since Jan 2016
    Dx: Unspecified IF

    BFP#1 Nov 2017 • Blighted Ovum + MMC • D&C at nine weeks
    BFP#2 Apr 2018 • It's a boy! • Born 13 Dec 2018 :love:
    Anniversary
  • @echo-charlietango thanks for doing the work for me!  I honestly don't know why I didn't just Google it myself.  I think my brain has officially stopped working.  Sounds like my sequential screen is considered an AFP? 
  • edited July 2018
    @scaredunprepared Sounds like your second screen just includes AFP :smile: The difference with screenings I've noticed are just what abnormalities companies look for. My first screen covered all of the common trisomies and carrier status. My second screen was just for AFP because we agreed that it would be a good compliment to my initial screen (since AFP was the only marker that my first screen didn't look at).
    NTNP since Dec 2012 | TTC since Jan 2016
    Dx: Unspecified IF

    BFP#1 Nov 2017 • Blighted Ovum + MMC • D&C at nine weeks
    BFP#2 Apr 2018 • It's a boy! • Born 13 Dec 2018 :love:
    Anniversary
  • Welp. After the great news about SO not being an SMA carrier, my AFP and HCG came back high :/ . I know it's just a screening but this is such a roller coaster. I'm scheduled for an amnio and level 2 ultrasound, 1 next week and 1 the week after since im just 18wks tomorrow. 
    I haven't cried like that in a long time. So stressful and frustrating.
  • @shygirl88 ugh I'm so sorry you're going through this roller coaster!  Fingers crossed for better news in the coming weeks. 
  • @shygirl88. I’m so sorry to hear you’re going through more stress all over again, and hope the upcoming tests provide some reassurance for you. ❤️
  • @shygirl88 I hope the testing brings good news and that you are able to find peace while you wait.
  • @shygirl88 I’m so sorry you got hard news. I hope the further testing shows everything is well! Fingers crossed for you.
    **June Siggy Challenge - P.I.L.Fs**
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  • @shygirl88
    I am so sorry you are having a tough time. Sounds like you need to fill your days with hobbies/movies until your next round of tests. Stressing out isn't going to make it better, but maybe filling your days with other things will distract you enough..


  • I have an ultrasound on Tuesday to try to get more information.  Also,  possible amnio. Luckily I'm with friends all weekend for a bachelorette party so I'm staying distracted... most of the time.  Thanks everyone. 
  • @shygirl88 Thinking if you and sending thoughts for a clear ultrasound and good results. I’m sorry you’ve been through so much!!
    Pregnancy Ticker
  • Thinking of you @shygirl88 and hoping you get more info with the next ultrasound (and possible amnio) and that it's all good news! So sorry you're having to deal with this worry and stress!
  • @shygirl88 really hoping you get good news on Tuesday! Glad you're able to keep your mind off of it at least some this weekend.

    @scaredunprepared yay for DH not being a carrier!! Sorry, I just opened this thread for the first time in a while, so belated congrats!!
    DS1 born 2/28/16
    DS2 due 12/12/18

  • @shygirl88 hoping for all positive news for you.  

    @CecilB93 thank you so much!
  • @babyluv1234 I’m so glad she gave you such great odds! 
  • @babyluv1234 what great news!  Hopefully at your follow up they can completely put your fears to rest!  Enjoy your reveal party, you've got a lot to celebrate :)
  • @shygirl88 yay!  Glad all seems well with baby.  How interesting that nipt may be incorrect.  Whatever baby is, the most important thing is that there doesn't seem to be anything wrong. 
  • @shygirl88 What a roller coaster! I am glad all is well healthwise!
  • @shygirl88 here’s hoping you get some clearer answers from the amnio.  Did they give you a sense of timing on results? 
  • @Katzalia they said 1wk earliest, hopefully no more than 2 weeks. I was really hoping to announce by 20 weeks...so we will see. I'm 18w6d today. 
    I've been very careful out in public at stores to avoid seeing a lot of ppl who don't know ha! I am showing pretty good. 
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