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Balanced Translocation and Muscular Dystrophy
I am new to this forum but just decided today that I need a support group for what may or may not lie ahead. I have something called "balanced translocation" which has the potential to be passed in an unbalanced way to my baby and cause severe chromosome issues, if the baby makes it full term. Luckily the chance is very low providing that I don't miscarry. Our ultrasounds have come back great (we have a wonderful high risk doctor) so things are looking positive. However, as a double whammy, my husband's father and brother have muscular dystrophy and he carries a 50/50 chance of passing on the gene to our child as well. We opted to not have an amnio (my husbands decision more so then mine) and I am now 20 weeks and started to get very scared of all of the "what ifs". I was hoping that some of you may be able to share some insight into one or both of these situations and share how you cope with the "what ifs". Thank you so much!
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Re: Balanced Translocation and Muscular Dystrophy
Hi! I can help with the balanced translocation....I went for an amnio at 18 weeks because of an AFP test showing high odds for Down Syndrome. All the ultrasounds looked great, but I opted for the amnio anyway. DS did not have Downs BUT we discovered that he did have a balanced translocation between #13 and 14 chromosomes. I FREAKED out. Seriously, I think I cried for weeks until DH and I got tested to see if we were carriers. Turned out that DH has this same translocation and passed it on to DS. I felt much better knowing that DH has this too because he does not have any complications from it. We had no problems getting pregnant, so we were lucky because rate of miscarriage is super high. I keep wondering what will happen when I try to get pregnant again.
Anyway, balanced translocations are no cause for concern (except when trying to conceive...higher rate of trisomy, unisomy, UPD, etc). As a side note, I learned that my good friend's DH and DS has the same translocation. About 1 in 5 people have one but one knows about it unless they've been tested. If it wasn't for my amnio...I never would have known!!!!
If your ultrasounds look good, my guess is everything is fine! I believe trisomies of any chromosome would show abnormalities on the u/s. I guess the only way to really cope with the "what ifs" is to have an amnio. It will give you an answer and peace of mind throughout the rest of the pregnancy! Good luck with everything
Hi, I'm a fertility nurse and a mom of a SNC.
From what I know about translocations is that if your baby has it, you probably would have miscarried by now.?
And in terms of the muscular dystrophy, is your DH a carrier? If he is not a carrier then he can't pass on the gene to your baby. If your DH hasn't been tested, would he be open to? Then at least you would know if he even is a carrier. And if he's not then you don't have anything to worry about.
My DD showed some abnormalities at her 18 week fetal survey (such as a 2 vessel umbilical cord). We did an amnio and it came back normal which mean she didn't have any gross chromosomal abnormalities such as a trisomy. But she does have a mutated gene that was passed to her by me and my DH. All of the ultrasounds were very vague (we think she has something wrong but we're not really sure is what the docs would say). It wasn't until she was born that we were able to confirm that she had a genetic syndrome.
So we had A LOT of what-ifs. Honestly, pregnancy is a crap shoot. You can do everything right and still have a bad outcome. Doctors won't tell you what to do so you just need to trust your instinct and listen to your heart.
Also, having an amnio is YOUR decision, not your husband's. This is your body- you are the patient. Not him.
Good luck.?
BFP 3/9/12 Natural M/C 4/11/12