Wednesday, July 3, 2013

Robertsonian Translocation

Yesterday afternoon my OB called to let me know that the labs from my miscarriage tissue are back and the results show a chromosomal abnormality called Robertsonian Translocation.  She also advised  my husband and I to meet with a genetic counselor, and that we may need to undergo genetic testing to see if we are "normal".

Immediately, I panicked.  Hearing the words "genetic counselor" scared the life out of me, and I called my husband in tears.  We both quickly did some Google searches, which caused only more fear and confusion for me.  I frantically checked baby blogs and message boards, searching for information and any bits of hope I could find.  I know it doesn't help to think of worst case scenarios but that's all that's been running through my head.  I'm petrified that I'll never have a successful pregnancy and desperate for info that points to the contrary.  The problem is, I don't even know what I'm looking for just yet.  There are apparently balanced and unbalanced translocations (I'm not sure which one was discovered in this case), and any prognosis about future pregnancies depends on whether my husband or I are carriers.  I am assuming this is why the counseling was recommended.

I guess it is possible that it was a random error, and I guess that's what I'm hoping for; however, the fact that my OB referred me for genetic counseling makes me nervous because when I initially brought the tissue sample in to be tested, the doctor said most times the chromosomal abnormalities are not indicative of any issue and testing is not typically needed until 2-3 miscarriages or over age 35. But this was my first miscarriage and I'm only 32?!  My OB did not get into details on the phone yesterday besides mentioning the presence of Robertsonian Translocation abnormality when she called, so I don't know if she has any additional information she didn't share with me that has caused enough concern for her to refer me to a genetic counselor for testing, or whether such a referral is routine for such abnormalities.

Although I am scared to death to find out whether the translocation was a random error during cell division or whether it was inherited (i.e., we are carriers) and therefore will affect any future pregnancies, I know I should want this information.  Knowledge is power, right?  The problem is... more information is not going to change the fact that I am desperate to get pregnant again and birth a healthy baby.  What if this wasn't a fluke and we are carriers?  What if we discover that our chance of having a healthy baby is low?  Is that something I will be able to handle emotionally?  Honestly, I'm not sure I can.

I feel like this is a never-ending nightmare that is only getting worse instead of better with time.

I know there is nothing I can do right now but wait to meet with the counselor, and see whether genetic testing is necessary, but the waiting is killing me (and it's only been a day).  For now, I am going to stop searching the internet and baby chat boards for info, and try to keep an open mind until we meet with the counselor next Thursday. I guess the best case scenario would be for this translocation to have been a fluke mutation during cell division and not genetically inherited from my husband or me, so I will hope and pray for that outcome.


  1. I do think knowledge is power... for the most part. One of my best friends is a genetic counselor and my husband and I actually did genetic testing as well before pregnancy. But generally, i think it's good to know what you could/would do with that information. Would you test the fetus in the future to know if your baby was a carrier or had the disease and what would you do with that information? it's pretty heavy, yes, but ultimately a really good way to go is to think about if you could have any control over a potential outcome. Hope this doesn't overwhelm you more, but provides some clarity for you... and let's not forget all the fear-mongering that goes along with pregnancy and doctors!! Sometimes it's best just to trust your own instincts. Actually, I think it's best most of the time. After my miscarriage, the nurse midwife wanted me to go to the doctor a few days later to get blood work done and make sure my HCG levels were going down. ugh-- a doctors office? making it more clinical? I thought about it and then remembered I am very in touch with my body and what's going on with it and I'd know if my body wasn't passing the miscarriage in the way it should. I didn't need blood work to tell me. So I didn't. It felt right and I was happy to not go to a doctor's office. That's just me, but I think a great exercise (especially as future parents!) to take a step back and think about what feels right FOR YOU.

    1. Of course those are the exact right questions to be asking ourselves... the problem is, I don't know the answers. I'm honestly too scared to even think about it or find out how I'd respond. Thanks so much for sharing your personal experience and guidance though -- it's helpful to know I'm at least headed down the right thought path.

      It's great that you're so in touch with your body and absolutely agree that you should follow your instincts and do what feels right for you and your body. Personally, I've always had a bit of a hard time pinpointing my "gut feelings". Generally, I have a very hard time making decisions (no matter how big or small) and I think part of the reason is because I have a really hard time identifying my instinctive reactions, so instead I tend to over think things.

      Thanks again for reading and commenting! Be well!


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