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Getting testing done

jess123456jess123456 member
in Late Term and Child Loss

Hey ladies,

I shared my story last month when we lost our baby girl, Grace. However, for those of you who don't know we lost our baby girl due to a very rare chromosomal abnormality (something that through amnio and additional testing was ruled a fluke and not something that we passed down to her). Though Grace had genetic issues that were not compatible for life here on Earth, she will always be perfect to us. 

We are no way near the point of being ready to try for our rainbow baby at this point but I did recently have a follow up appointment with my RE to discuss everything. He previously did a full work-up on me before I became pregnant with my daughter (including HSG, bloodwork etc.) but didn't include any chromosomal testing for me or my husband. We have been very fortunate to be able to conceive on our own easily but I had two previous losses before Grace and have no living children. I asked him since Grace had a trisomy if testing would be necessary for us. I assumed it would be but my RE assured me that we don't have a translocation of what our daughter had (I guess they could tell this through the amnio test) and that it was really just a fluke what happened.

He really can't think of any reason why we can't seem to conceive a healthy child. We understand that Grace's condition is different of course.  He asked if my husband would consider trying a different migraine medication because that has been the only medication that he has been on since we started this journey a couple of years ago. Of course medication for someone who has awful migraines are a must. It sounds like a shot in the dark to me because he can't think of anything else.

This makes me feel very uneasy because even though I know that what happened to Grace is a fluke I wish that he would agree to do chromosomal testing on us just to be thorough or perhaps to make us feel better emotionally about moving forward. If she didn't have any trace of any of the other trisomy's does this mean that we don't carry them?  Sorry for venting here. I think it is obvious that I am not ready to move forward with trying again and perhaps that is why I am reacting this way?  Is it necessary to get a second opinion or is it just my emotions that are responding this way?

I really love my RE and he has been such a great advocate for us but I guess my emotions are getting in the way of the facts here. 

Has anyone dealt with something similar?  Thanks as always.

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Re: Getting testing done

  • yosemitemomyosemitemom member

    Hi,
    I lost my baby girl in June of this year to a rare syndrome; I was 21 weeks pregnant when her severe abnormalities were discovered during our anatomy scan. Our daughter?s malformations/abnormalities can be part of a genetic syndrome or it can be an isolated feature and not associated with a genetic syndrome (some research has linked it to environmental factors). Her amniocentesis and FISH tests were both normal. We were informed that our risk of recurrence in future pregnancies is between 5% and 25%. The risk is lower if it was an isolated case or higher if it is linked to a genetic condition that we may carry. The syndrome is rare and as I understand there isn?t any ?one? test for it?it?s been linked to a various different chromosomal abnormalities, genetic conditions, etc.

    Here are my thoughts: What I find is that I want...what I crave... is more information. I want an answer. I want reassurance. But, no one can give that to me. Not our perinatologist, not a genetic counselor. Unfortunately, no one has an answer. We don?t know if we carry this, if I was exposed to something during the first trimester that caused this?or if she was just unlucky. None of our specialists have recommended any testing for my husband, nor I.

    I?m not sure how much I helped, but I thought I would respond since I haven?t seen any other posts. Have you checked out Ba.by Ce.nter message boards? There is at least one board for TTC after losing a baby to chromosomal or genetic conditions. Some of the threads have been really helpful for me.

    I am a mother to two daughters. Our first is a lovely and vibrant three-year old. Our second, passed away during the sixth month of pregnancy (June 2012).
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  • yosemitemomyosemitemom member
    And, I am so very sorry for the loss of your baby girl, Grace. I hate that anyone has to experience this kind of heartbreak. Take care.
    I am a mother to two daughters. Our first is a lovely and vibrant three-year old. Our second, passed away during the sixth month of pregnancy (June 2012).
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  • lmielocl1lmielocl1 member

    I am so sorry for your losses. I have not experienced what you have with a rare chromosomal abnormality as our loss was due to a cord accident.  I wanted to suggest seeking a 2nd opinion, if you think having additional testing would be helpful to you.  I do not think it can hurt to see if another RE is willing to do the testing you are seeking to have done.  I think it is only natural to have emotions like you are feeling.  Another thought -- Would it be possible to see a MFM for an opinion instead of another RE?  This way you would not be leaving your RE - you would be seeing another professional.  I know after my first pregnancy with my DS1, when they thought I had blood clotting issues, my OB sent me to a MFM.   

    I wish you the best in your decision making on the next steps.  (((Hugs)))) 

    Lilypie Angel and Memorial tickers
    image http://lmielocl1-lesliejourney.blogspot.com
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  • jess123456jess123456 member

    Thanks so much, ladies.  I really appreciate your thoughts. We did talk with an MFM because she was the one who performed the amnio for me. She also concluded that she didn't think that additional chromosomal testing on us was necessary. I guess I forgot about that conversation but it was before we lost Grace so everything has been such a blur :(

    It is so hard for me to respond to things in a practical way instead of an emotional way when our hearts have been broken. I have a sono-hystogram scheduled for next month with my RE so I will see how I am doing then and go from there.

    One step at a time I guess. 

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