Trouble TTC

Genetic Testing

Hey ladies - first of all, to the IVF'ers, I am SO sorry that I didn't post the IVF check in today! I am traveling for work and won't be able to post it until I get back on Wednesday. Hope you all don't mind waiting a couple extra days.

 

In other news.....I got a call from my Dr. today re: my genetic testing results. I was shocked to find out that I am a carrier for Cystic Fibrosis. Sad  I didn't even talk to the Dr. because I was on a flight OOT for work, so I just listened to the message. He said that the lab that completed the genetic testing noted a 1 in 110 "reproductive risk." I don't know what this means. I know that we have to get DH tested and I shouldn't stress before that happens, but I can't help but worry a bit.   I have heard that there is only like a 1 in 628 chance of both partners being carriers, so those are pretty low odds, but still, I am in shock. Is anyone else here a carrier?


** After  2 1/2 years of Unexplained IF, 2 failed medicated cycles, and 4 failed IUI's - our baby girl is coming to us through the miracle of
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Re: Genetic Testing

  • I'm so sorry GG.  I can't remember if it was someone here or on TTCAL that learned that but then had her husband tested and he was in the clear.  I hope that your husband isn't a carrier and you don't have to worry.  But I agree that those odds seem really low.  

    As for the IVF check in, since it's so new - I couldn't remember what day it was.  Have a safe work trip and we'll all check in when you get back. 


    TTC since July 2009. Dx MFI & LPD. 
    IUI#1&2&3 (2011 & 2012) BFN
    IUI#4 1/23/13 on 75iu x9 Follistim = BFP then chem preg m/c (Feb 2013)
    IUI#5 BFN (April 2013)
    IVF w/ICSI Oct. 2, 2012 - 13R, 11M, 7F, 1 frozen blast 4BB grade - - - FET Nov 15, 2013
    BFP! Beta 1:104 @ 10dp6dt, Beta 2:178 @ 12dp6dt,  beta 3:366 @ 14dp6dt
    Saw heartbeat twice before missed M/C at 8w3d on 12/27/13, missing my little angel boy
    JUNE 2014 IVF#2;  5R, 2M, 1F Three day transfer 6/7.  Beta 6/18 - BFN
    Child Free Now?
    S/PAIFW , S/PALW

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  • I am a carrier too. I was also in shock. I had no clue!!! Luckily DH isn't, but that was a long wait to find out! I ended up letting my brother know so that he could get tested or his wife get tested. I hope your DH isn't a carrier either!! GL! T&P with you!!
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    Age: Me 26, DH 27, Married Oct. 10, 2009 ,TTC since March 2012
    Problem: Irregular menstruation, unexplained
    Nov&Dec-Provera because of no period after 35+ days
    First RE appt 1/10/2013
    Tests: TSH (normal), Prolactin (normal), SA (abnormal)
    Hysteroscopy (normal) and PCOS labs (negative/normal) 1/15/2013
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    Plan: Femara + Trigger + IUI in April if no real BFP before then Bloggy Blog!
  • image Say1009:
    I am a carrier too. I was also in shock. I had no clue!!! Luckily DH isn't, but that was a long wait to find out! I ended up letting my brother know so that he could get tested or his wife get tested. I hope your DH isn't a carrier either!! GL! T&P with you!!

    Yes! I remember this now, but for some reason I though it was Fragile X - I don't know where I got that from. Hopefully DH can get in soon to get tested. I can imagine the wait to find out will feel like forever. I also let my sisters know - both of my biological sisters are currently pregnant. Hopefully this is really nothing to worry about. The only thing that is stressing me out is that I have a feeling that my IVF might be delayed until his results are in. Sad I guess I'll know more once I actually talk with my Dr's.  Thanks for the T & P's, ladies! 


    ** After  2 1/2 years of Unexplained IF, 2 failed medicated cycles, and 4 failed IUI's - our baby girl is coming to us through the miracle of
     Mini IVF! **

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  • Sorry GG - I bet that was pretty shocking news. FX that your hubby is not a carrier. Glad the odds are in your favor there. GL!


    Diary of a Little Chicken (My Blog about Infertility, Pregnancy & Loss)

    TTC our first take-home baby since June 2012 with Anovulation and PCOS

    Rx: Metformin, 1500mg || Tx:  No response to ovulation-inducing meds
    Nov 2013: IVF#1 = very first BFP! EDD: 8/15/14
    Mar 2014: Learned our precious baby would not make it due to
    severe physical and mental deformities from Spina Bifida and Hydrocephalus

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  • I hope you get some answers soon and it doesn't delay your IVF treatment. Keep us posted!

    imageimageimageimage


    Married 10/10/09. Me: 34 DH: 37. Started TTC 02/2012.  Diagnosed with unexplained infertility 5/20/13. 
    Cycle #1 - #15: TTC naturally.
    Cycle #5: BFP. Ended in m/c at 7weeks 5 days.
    Cycle #6-#7: TTA because of believed molar pregnancy. Genetic testing revealed no molar.
    Cycle #8 - #15: TTC naturally.Diagnosed with unexplained infertility during cycle #15.
    Cycle #16: 06/3/13: TI #1 with Clomid (50 mg) + FSH + Trigger. BFN
    Cycle #17: 6/28/13: TI #2 Clomid (50 mg) + FSH + Trigger. BFP 7/24/13!! Beta #1 633 on 7/29/13. Beta #2 1114 on 7/31/13 - not double but nurse said looks good.
  • I am a carrier of CF and was shocked as well.  DH was tested and thankfully he is not a carrier.  For a Caucasian with no family history the odds of being a carrier is about 3% (other ethnicities have even lower odds).  So there is a good chance that your DH is not a carrier, I found these stats helpful during the wait for his test to come back.

    The risk only comes up if both parents are carriers.   Because CF is a recessive mutation, a child must receive the CF gene from both parents to have the disease.  If both parents are carriers, they have a 25% chance of having a child with CF (they have a 50% chance of having a child that is a carrier and a 25% chance of having a non carrier child).  If only one parent is a carrier, they cannot have a child with CF, but have a 50% chance of having a child that is a carrier.  This is important to know because when your children grow up they will probably want to be tested to see if they are a carrier.

    let me know if you ave any more questions.  I did way too much research while waiting for DH's results to come back. :) 

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    TTC #1 since August 2011

    My Blog

    September 2012: Start IF testing

    DH (31): SA is ok, slightly low morph  Me (31): Slightly low progesterone, hostile CM, carrier for CF, and border line high NK cells

    October 2012: Clomid + IUI w/ OB/GYN = BFN

    November 2012 - March 2013: Break while finding the right RE and more testing

    April 2013: Unmedicated IUI #2 due to hostile CM = BFN

    May 2013: Clomid + Trigger + IUI #3 = BFN

    June 2013: Clomid + Trigger + IUI #4 = BFN

    August 2013: IVF w/ICSI #1 6R 5M 3F All 3 embryos are slow growing and poor quality.  All 3 arrest before transfer

    October 2013: IVF w/ICSI #2 8R 7M 5F Transferred 1 beautiful early blast.  Nothing to freeze.  BFP! Beta #1 14.6  Beta #2  3  Chemical Pregnancy

    January 2014: IVFw/ICSI #3  8R 8M 8F Transferred 1 grade 1 expanded blast and 1 grade 2 early blast.  Nothing to Freeze.  BFN

    February-March 2014: Getting Second Opinions from RMA NJ

    March 2014: Start Embryo Adoption/Donation with FIRM.  We've selected our donor and have 9 snowflakes!

    May 2014: FET w/ donor embryos- Transferred 2 blasts and 1 morula, nothing to re-freeze.  BFN

    June-August 2014: On a treatment break until our appt. w/ Dr. KK August 14th


    PAIF/SAIF Welcome!

  • We haven't had genetic testing done and I don't have any advice for you. I just wanted to say I'm sorry that the results have left you in shock and wondering what it all means.

    Keep us posted on what you find out from your RE. *big hugs* 

    ** siggy/ticker warning **

    Me: 26  DH: 30 :: TCC #1 since 01.2012
    **unexplained infertility**
    04.2013 b/w & HSG normal - DH SA 98% motile 31mill
    05.2013 IUI cycle #1 - Clomid - follies 27,22,21,12- 31mil post wash 98% motile - BFN
    06.2013 IUI cycle #2 - Clomid - follies 32,22,18,18,14 - 22mil post wash 99% motile - BFN
    07.2013 IUI cycle #3 -  Clomid - follies 29, 20, 15 - 43mil post wash 98% motile -
    BFN
    08.2013 09.2013 IVF cycle #1 - Lupron + Menopur + Follistim - 7R 6F - 5dt (2) 4AA blasts - BFP on HPT 4dp5dT

    10dp5dt - Beta #1 = 249
    12dp5dt -
    Beta #2 = 475
    19dp5dt - Beta #3 = 4,608
            7w - 127bpm
            8w - 166bpm
          10w - 158bpm

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  • image Twinkie0612:

    I am a carrier of CF and was shocked as well.  DH was tested and thankfully he is not a carrier.  For a Caucasian with no family history the odds of being a carrier is about 3% (other ethnicities have even lower odds).  So there is a good chance that your DH is not a carrier, I found these stats helpful during the wait for his test to come back.

    The risk only comes up if both parents are carriers.   Because CF is a recessive mutation, a child must receive the CF gene from both parents to have the disease.  If both parents are carriers, they have a 25% chance of having a child with CF (they have a 50% chance of having a child that is a carrier and a 25% chance of having a non carrier child).  If only one parent is a carrier, they cannot have a child with CF, but have a 50% chance of having a child that is a carrier.  This is important to know because when your children grow up they will probably want to be tested to see if they are a carrier.

    let me know if you ave any more questions.  I did way too much research while waiting for DH's results to come back. :) 

    This is hugely helpful. Thanks so much. I will definitely let you know if I have any questions - I have a feeling I will as I wait for his results to come back.

    Thanks again everyone for the encouragement. :) 


    ** After  2 1/2 years of Unexplained IF, 2 failed medicated cycles, and 4 failed IUI's - our baby girl is coming to us through the miracle of
     Mini IVF! **

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  • I'm sorry GG. I'm sending lots of positive thoughts your way that YH is not a carrier.
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    beta #1 9/27 - 63, beta #2 9/30 - 224, beta #3 10/2 - 573, beta #4 10/4 - 1314
    Baby girl born 5/9/14 at 36 weeks
  • I went through the same thing. When I had surgery in 2010 I am a carrier for CF. So DH got tests and I got retested both of us with the Council test and the company guarantees you will not pay more than 99 oop per person. He came back negative for CF. so our risk for CF is actually now 1 in 3,600. The normal population with both parents negative was 1 in 3,100 according to the Council test people. That test is totally worth it!!! GL!!!

    March 2013: First TTC trip to RE, On 1500 mg Metformin, April 2013:  PCOS and Endometriosis, May 2013:  DH Low volume; Femara 7.5 mg + IUI #1 = BFN, July 2013: Femara 7.5 mg + IUI #2 = BFN, August 2013:  Femara 7.5 mg (X5) + Bravelle (X7) + Ovidrel + IUI #3 + Endometrin = BFP  MC at 5w3d,
    October 2013:  Follistim (X14) + Ovidrel + IUI #4 + Endometrin =BFP!!! 

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  • image GermanGirl2007:

    image Say1009:
    I am a carrier too. I was also in shock. I had no clue!!! Luckily DH isn't, but that was a long wait to find out! I ended up letting my brother know so that he could get tested or his wife get tested. I hope your DH isn't a carrier either!! GL! T&P with you!!

    Yes! I remember this now, but for some reason I though it was Fragile X - I don't know where I got that from. Hopefully DH can get in soon to get tested. I can imagine the wait to find out will feel like forever. I also let my sisters know - both of my biological sisters are currently pregnant. Hopefully this is really nothing to worry about. The only thing that is stressing me out is that I have a feeling that my IVF might be delayed until his results are in. Sad I guess I'll know more once I actually talk with my Dr's.  Thanks for the T & P's, ladies! 

     

    Fragile X was probably me... my cousin has it, and based on lineage, there was a 25% chance that I would be a carrier (and that's one that doesn't require both parents to be a carrier to pass it on).  I did Counsyl in March (it's only $99 max if you have some kind of insurance, whether or not they cover it) and it was super quick and easy.  Luckily, I'm not a carrier for anything.

    FX your DH isn't a carrier.  I'm sorry you got thrown this loop, hopefully it all sorts itself out very quickly so you can move on with treatment.  Good luck!

    ************************SIGGY WARNING***********************

    Me: 28      DH:  31
    Off birth control March 2012 - Actively trying since Sept 2012


    After 22 months of trying and 4 cycles of fertility treatments
    including failed cycles of unmedicated IUI,  Femara/Follistim TI, and Femara/Follistim IUI,
    we were thrilled with a BFP on May 5th after Follistim & IUI #3!

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  • I'm so sorry GG.  FX for good test results for YH and that your IVF won't be delayed.
    ************SIGGY/TICKER WARNING***************

    TTC #1 since Nov 2011 DX: Unicornuate Uterus and lean PCOS
    BFP #1 3/15/2012 ~ EDD 11/20/2012 ~ C/P 4 weeks 5 days   
    IVF #1: ER 3/3  10R 4M 4F - CCS testing shows all 4 are normal!
    FET #1: ET 4/28 = BFP!!  EDD January 13, 2015
    ~~*Everyone Welcome*~~
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  • I'm so sorry about the shocking news. FX that your DH isn't a carrier. Hugs to you while you wait for answers
    image
    Me: 32 DH: 34  TTC#1 since March 2012 

    IUI #1-5: BFN
    Laparoscopy & Hysteroscopy: minimal endo, partial septoplasty
    IVF #1: 10R/6M/6F ~ Day 3 ET = BFN
    IVF #2: 14R/9M/5F ~ transfer canceled ~ all embryos arrested at 1-2 cell stage
    IVF #3: 9R/5M/5F ~ 1 frosty!
    FET #1: BFN
    Counting down the days until my appointment with the RI (August/September)

    All are Welcome!
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