September 2009 Weddings
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Our chromosome analysis is back

My OB called yesterday and talked to DH about our chromosome analysis. Apparently the baby we just lost had Trisomy 21, or Down Syndrome. According to my google research I did yesterday afternoon, up to 80% of babies with Trisomy 21 are either miscarried or stillborn.

Our next step is to go talk to a genetic counselor because although most of the time this is a spontaneous occurrence, there is also a chance that DH and/or I could be carriers, so for peace of mind we are going to evaluate that so we know if we have an increased chance of more losses or a special needs child.

I'm still waiting for the 10 vials of blood I had taken last week to come back, but hopefully now that we've found some definitive results already, maybe my results will come back negative. Pending the results of my blood work, we may also pursue a referral to a reproductive endocrinologist (RE) for more definitive testing to rule out other causes of recurrent miscarriage.

At this point, however, it seems like we just have really awful luck. Which, when you consider the alternatives, is probably one of the better scenarios, I guess.

Just thought you ladies would appreciate an update. I'll let you guys know when my blood work comes back as well. 

BFP 9/22/10, missed m/c 11/1/10 at 9w3d, D&C 11/3/10, diagnosis: trophoblastic hyperplasia
BFP 6/18/11, missed m/c 8/16/11 at 11w2d, D&C 8/17/11, diagnosis: baby girl with Trisomy 21
BFP 5/29/12, healthy baby boy born 2/12/13 at 40w5d :)
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Congrats to both my TTC buddies, Amberley18 and sb2006 on their beautiful babies!

Re: Our chromosome analysis is back

  • I'm very sorry to hear this but at least you got some answers. My sister had a baby with Trisomy 21 and unfortunately had a stillborn at 6 months. She went on to carry 3 successful pregnancies after the loss of baby Julia. It's so heartbreaking. Even knowing that the baby had a chromosomal disorder, it doesn't make it any easier. *hugs*
  • I'm sorry to hear that, but glad that you have some answers. Hopefully you get more answers soon!
  • I am so sorry but it's good you got some answer. I'll be keeping my fingers crossed that it was just a spontaneous occurance and neither of you are carriers.

    On the RE front, I honestly think that's your best way to go. OB's do not know all that much about getting you pregnant, just what to do once you are. It's a RE's job to actually get you there. They will have both of you do a battery of testing but honestly, it's better to know what you are dealing with up-front so that they know how to properly treat/moniter you.  {{{hugs}}}

    Image and video hosting by TinyPic
    Dx: Hashimoto's Hypothyroidism After 2 years TTC & failed IUs,we have our IVF baby born 9/24/11

    LO#2 aka 'Miracle Baby' Orig. EDD= 9/28 EDD moved to 10/3/13
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    "Most of the important things in the world have been accomplished by people who have kept on trying when there seemed to be no hope at all." -- Dale Carnegie
    "Our greatest weakness lies in giving up. The most certain way to succeed is always to try just one more time." --Thomas A. Edison
  • No advice from me, just an extra big hug and a prayer for you and your angel baby. I hope that this all sets you guys on the road to having your dreams come true. <3
  • Thanks for the update, and at least you are getting some answers.  Like Ames said, I hope all the poking and prodding and testing will be worth it because they get you one step closer to holding your own baby soon. 
    Pregnancy Ticker
  • No advice here either, but I'm very glad that you're heading down the road to answers.  We're here for you if you need anything!  *hugs*
    Accidental Smiles
    updated 10.03.12
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  • I am glad that you are starting to get some answers.  You will continue to be in my thoughts hun.  
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  • I'm so sorry to hear about your baby, but agree with others that it must be good to get some answers. I hope that you guys are able to find a plan that gets you home with a baby very soon! Thinking of you guys!
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  • Thanks for sharing. I'll be thinking of you and praying that the doctors continue to help you figure everything out. 
  • Glad you are starting to get some answers. Prayers that the docs figure everything out and get you on the road to a healthy baby very soon!
    image
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  • :hug: I'm glad you got at least some answers.  Hoping that the testing reveals nothing else and that you can get pregnant again soon!
    White Knot
    Stand up for something you believe in. White Knot
  • imageMrs. Mo:

    I am so sorry but it's good you got some answer. I'll be keeping my fingers crossed that it was just a spontaneous occurance and neither of you are carriers.

    On the RE front, I honestly think that's your best way to go. OB's do not know all that much about getting you pregnant, just what to do once you are. It's a RE's job to actually get you there. They will have both of you do a battery of testing but honestly, it's better to know what you are dealing with up-front so that they know how to properly treat/moniter you.  {{{hugs}}}

    This is how I feel too. DH doesn't have a clue what a RE would be able to do for us since we are able to GET pregnant, we just can't STAY pregnant. I know when I talked to my OB about my RPL testing I asked about things like MTHFR and he felt like that was outside of his scope to test for, which made me wonder what else I should be tested for but he hasn't ordered. (He also didn't test my thyroid, but another doctor of mine did, for example)

    DH is willing to go to the RE to talk to them but doesn't get why we need to go that route. I don't think we'd pursue any fertility treatments at this time, but if we can at least get testing done (especially before DH's insurance changes to heaven knows what in January) we can at least make better decisions going forward.

    Thanks for the kind words as always, ladies. I still feel sad about this whole mess, but I will say this diagosis alleviates some of the irrational "what if I did something to cause this?" guilt I was feeling, and in some ways it's better to be able to point at something specific and blame that. 

    BFP 9/22/10, missed m/c 11/1/10 at 9w3d, D&C 11/3/10, diagnosis: trophoblastic hyperplasia
    BFP 6/18/11, missed m/c 8/16/11 at 11w2d, D&C 8/17/11, diagnosis: baby girl with Trisomy 21
    BFP 5/29/12, healthy baby boy born 2/12/13 at 40w5d :)
    Lilypie First Birthday tickers
    Congrats to both my TTC buddies, Amberley18 and sb2006 on their beautiful babies!
  • imagetdmd09:
    imageMrs. Mo:

    I am so sorry but it's good you got some answer. I'll be keeping my fingers crossed that it was just a spontaneous occurance and neither of you are carriers.

    On the RE front, I honestly think that's your best way to go. OB's do not know all that much about getting you pregnant, just what to do once you are. It's a RE's job to actually get you there. They will have both of you do a battery of testing but honestly, it's better to know what you are dealing with up-front so that they know how to properly treat/moniter you.  {{{hugs}}}

    This is how I feel too. DH doesn't have a clue what a RE would be able to do for us since we are able to GET pregnant, we just can't STAY pregnant. I know when I talked to my OB about my RPL testing I asked about things like MTHFR and he felt like that was outside of his scope to test for, which made me wonder what else I should be tested for but he hasn't ordered. (He also didn't test my thyroid, but another doctor of mine did, for example)

    DH is willing to go to the RE to talk to them but doesn't get why we need to go that route. I don't think we'd pursue any fertility treatments at this time, but if we can at least get testing done (especially before DH's insurance changes to heaven knows what in January) we can at least make better decisions going forward.

    Thanks for the kind words as always, ladies. I still feel sad about this whole mess, but I will say this diagosis alleviates some of the irrational "what if I did something to cause this?" guilt I was feeling, and in some ways it's better to be able to point at something specific and blame that. 

    If you don't want to go down the fertility treatment road, have you considered maybe seeing a MFM instead of a RE? MFMs specilize in high-risk pregnancies and also recurring losses.

     https://www.smfm.org/What%20is%20Maternal%20Fetal%20Medicine%20Page.cfm?ht=p

    Image and video hosting by TinyPic
    Dx: Hashimoto's Hypothyroidism After 2 years TTC & failed IUs,we have our IVF baby born 9/24/11

    LO#2 aka 'Miracle Baby' Orig. EDD= 9/28 EDD moved to 10/3/13
    Lilypie Second Birthday tickers Lilypie Pregnancy tickers
    "Most of the important things in the world have been accomplished by people who have kept on trying when there seemed to be no hope at all." -- Dale Carnegie
    "Our greatest weakness lies in giving up. The most certain way to succeed is always to try just one more time." --Thomas A. Edison
  • I'll ask my OB what he thinks about a MFM referral. He offered at my last appt to refer me to "an infertility specialist" which I assumed would be a RE, but I'll ask what he thinks would be more appropriate.

    I just think that since we've gotten pregnant twice with 4 cycles of trying each that we don't really need fertility treatments at this point, and our insurance pays for infertility diagnosis, but absolutely nothing toward treatment, so we would have to pay entirely out of pocket if we went that route.

    Thanks for the info on the MFM :) 

    BFP 9/22/10, missed m/c 11/1/10 at 9w3d, D&C 11/3/10, diagnosis: trophoblastic hyperplasia
    BFP 6/18/11, missed m/c 8/16/11 at 11w2d, D&C 8/17/11, diagnosis: baby girl with Trisomy 21
    BFP 5/29/12, healthy baby boy born 2/12/13 at 40w5d :)
    Lilypie First Birthday tickers
    Congrats to both my TTC buddies, Amberley18 and sb2006 on their beautiful babies!
  • Glad to hear that you're getting some answers. I'm sure it doesn't make it any easier, but like you said it's at least a little easier than knowing nothing. Good luck with the rest of your tests.

    Re: RE You may want to look into whether or not your insurance will cover an RE. I don't say that to discourage you from going. I just know that ours doesn't, and it's a big out of pocket cost. Since getting PG isn't the problem and you aren't looking into IF treatments, it might not be the right move for you just yet. It really depends on what the other tests results say, ie is this a recurring thing or just bad luck. Good luck either way. Just something to think about.

  • I'm so sorry. :( I've been thinking about you a lot lately and praying that you get some more answers. I'm sorry this journey has been so tough for you.
    Dave and Kathleen - 09.12.09:

    image 

  • imagetdmd09:

    I'll ask my OB what he thinks about a MFM referral. He offered at my last appt to refer me to "an infertility specialist" which I assumed would be a RE, but I'll ask what he thinks would be more appropriate.

    I just think that since we've gotten pregnant twice with 4 cycles of trying each that we don't really need fertility treatments at this point, and our insurance pays for infertility diagnosis, but absolutely nothing toward treatment, so we would have to pay entirely out of pocket if we went that route.

    Thanks for the info on the MFM :) 

    In this case, definitely ask about the MFM and then check to see which ones are covered in-network.

    Good luck !!!

    Image and video hosting by TinyPic
    Dx: Hashimoto's Hypothyroidism After 2 years TTC & failed IUs,we have our IVF baby born 9/24/11

    LO#2 aka 'Miracle Baby' Orig. EDD= 9/28 EDD moved to 10/3/13
    Lilypie Second Birthday tickers Lilypie Pregnancy tickers
    "Most of the important things in the world have been accomplished by people who have kept on trying when there seemed to be no hope at all." -- Dale Carnegie
    "Our greatest weakness lies in giving up. The most certain way to succeed is always to try just one more time." --Thomas A. Edison
  • hugs friend. and heres hoping you get more answers soon.
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