We finally got the much anticipated call from our Genetic Counselor, and we're normal! {Chromosomally speaking anyway.} Our karyotype results show that my husband and I each have 46 normal chromosomes, with no translocations. That's good news.
It means the chromosomal abnormalities that caused our miscarriage were not inherited; they were "de novo" or new, likely due to errors during cell division.
It doesn't mean that they won't occur again; it's certainly not impossible, though from the research I've done so far, it seems improbable that we'll experience a chromosomal abnormality twice in a row. As we've come to realize, there are no guarantees -- but I'll happily accept this prognosis.
This has been the longest 13 days of my life. Who am I kidding... it's been the longest 53 days of my life. Although hearing these results don't change or lessen in any way the loss of our first pregnancy, confirming that the miscarriage was not due to any inherited abnormalities does, finally, give me some sense of hope back.
We still have a few unanswered questions, I plan on doing some more research online, and we'll likely place a follow-up call to the Genetic Counselor to obtain more information; but for now I'm going to enjoy this small bit of relief.
Showing posts with label inherited. Show all posts
Showing posts with label inherited. Show all posts
Thursday, July 25, 2013
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.
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.
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