Ominous test results, maybe a game ender

8 Oct

Yesterday my RE called and let us know that our results arrived from our “products of conception” that were collected at my D & C earlier in September.  I honestly wasn’t expecting the results to tell us anything.  Everything I’ve read about recurrent miscarriage is that it sucks and you just have to keep trying and eventually one of ’em makes it through, trial and error style.  What she said put the breaks on the whole thing.  The results didn’t make a whole lot of sense to me.  Apparently our little boy (yes I found out it was a boy, all they needed was the XY) had rearranged chromosomes.  Normally when people miscarry they have an extra chromosome or are missing one.  Seven of the 21 chromosomes were normal.  The remaining ones showed a “random unbalanced rearrangement of chromosome #4 approximately at long arm band 4q31… The additional material on the chromosome #4 long arm, regardless of its origin, makes this particular fetus/placenta unbalanced and abnormal… most likely cause of the loss of this pregnancy…”.

The day before my doc just gave me the green light to try again as my normal period just started up again and I was high as a kite to move forward with trying again, confident that in the next 6 months or less I’d likely get pregnant on Femara again like I did before.  I was reading the encouraging studies that say even after 3 miscarriages a normal, healthy person has a 70% chance of having a healthy baby.  However in her call the next day she clearly suggested I may be in the 30% group.  She suggested that we wait until we had genetic counseling before trying again.  Based on my abnormal results I may have a really high chance of miscarrying always (maybe 90% risk, vs. the usual 25% risk), or perhaps we have a genetically abnormal baby that my body brings to term.  As scary as these scenarios are, I am even more scared that we can’t do much about them.  What treatments are available for broken genetics?    While I am relieved to hear there was a reason (and thus can stop blaming myself) I am really scared that these tests are going to tell us that we just can’t have a healthy baby.  That is kind of a game ender.   My optimism that maybe 4th time is a charm just burst with her call.

Next step getting a call for approval for genetic counseling and testing…

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5 Responses to “Ominous test results, maybe a game ender”

  1. Nelly October 8, 2010 at 9:42 pm #

    Oh girl….I’m so sorry 😦 Doctor’s preliminary ideas of what “could” be the problem are so many times dead wrong. The Dr’s told my gram they thought she had cancer but it turned out to be pneumonia, the next time they told her she had pneumonia she had cancer. Hoping and praying for you the doctors were worried for nothing! Let us know when you get scheduled.

  2. Another Dreamer October 9, 2010 at 3:55 pm #

    Have they done karyotyping on you and your partner? That should be more conclusive… it took us like 3 weeks to get the results back from that. If that is the case, usually they recommend IVF (where they specifically look at the genes, I think it’s PGD maybe?) Or super ovulation, trying to get as many eggs, so the chances of creating at least one healthy embryo are higher. But more testing should reveal more into this, and hopefully they can come up with a game plan and really talk to you about it in depth. Hang in there, so sorry about the news. I am hoping it was just a random happening, and not an issue with your chromosomes. I really hope they pursue more testing and get ot the bottom of everything.

  3. Foxypopcorn October 10, 2010 at 12:11 pm #

    HI Friend,

    A little boy. Again I am so sad for your loss.

    Wow, This was unexpected news, huh? I’m so sorry. Bad news freaking sucks, and I am so freaking done with it. It is just so unfair.

    We met with the genetic counselor early on in our journey because I am a carrier for CF and we’d just had complete genetic testing for ML to see if we could identify a cause of the Azoos.. Her name was Gina and she was SO nice. She took a full hour with us, reviewing so much information, much more than just about the CF. I hope that you can find a genetic counselor who is as nice and caring and comprehensive as she was.

    What a difficult journey this has been, and will continue to be. You are strong. You can do this. And you know that you can call me anytime that you want to chat, right?

    xoxo – Foxy

  4. allie November 18, 2010 at 10:12 am #

    I have had 4 losses and we had to see a genetic counselor after my husband was shown to have a “pericentric inversion of chromosome 9”. The geneticist said that it was not likely the cause of the losses and to keep looking. Well, 5 months later and another loss later, we are still looking but have been tested for everything under the sun… I read online recently that this small inversion could be a cause of rpl or if among women from a study in India. Have you found any reasons for your losses other than this?

    • starfishkittydreams November 22, 2010 at 12:13 am #

      Thank you for stopping by to read my blog. I will be sure to visit you at allsonbaskin.blogspot.com I will definitely look into this and see what I find.

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