Tuesday, October 03, 2006

Trisomy 8

We found out the results from the genetic testing of the miscarriage: Trisomy 8, a genetic abnormality not compatible with life. Trisomy means that there are 3 chromosones instead of 2, and trisomy 8 is one of the more common ones. Downs, of course, is the most common one.

I am sad. But so relieved. There is no way this could have been passed down from us, because babies with complete trisomy 8 cannot live. There is a syndrome called mosaic trisomy 8 in which some but not all of the cells have trisomy 8. It is characterized by expressionless faces and joint problems. And although I sometimes accuse Dave of having flat affect (compared to me, Charo has flat affect), we are not carriers.

So relief. We are not the source of these miscarriages. I do not have a clotting problem. We do not have unknown genetic problems we're passing down. This was a spontaneous problem during fertilization.

Of course, there are some reasons. I'm old. My eggs are old. The risk of a normal woman my age having any genetic problems is 1/42---about 2%. That's higher than I would have had 20 years ago (1/500), but I still think it's a low number. And the fact that we can get pregnant quickly feels encouraging. I may be fooling myself. And, btw, I'm not being overly maudlin. Most trisomy problems are "of maternal origin."

But I do feel better than the next pregnancy or the next one or even the next one if we get that far will be ok.

The subchorionic bleed didn't do it. We are not passing along something weird. Well, besides our personalities and general geekiness, we are not passing along anything weird.

That feels ok.


Carroll said...

Sighs of relief, all around!

karen said...

good. good good good.

Ashley said...

I know this post is really old, but I just wanted to say thank you for it! I recently had a miscarriage, and found out my baby also had Trisomy 8. I know that the only way it could be passed down from either my husband or myself is if one of us had mosaic trisomy 8, which I seriously don't think we do. Anyway, just thanks, it was nice to read someone else going through a similar thing. :)

Anita Blanchard said...

Big hugs, Ashley. Hang in there.

Anonymous said...

I know this is an old post. But I found it while trying to educate myself. I have beautiful happy loving little girl who has mosaic trisomy 8. She has a few issues but for the most is doing well. Learning to read and do math. She is amazing. And has taught us all so very much.

Anonymous said...

I'm posting this in 2015 so I'm not sure if you'll see this comment (hoping you do somehow) but I found your site through a google search while searching for info on trisomy 8.

I have had three miscarriages (no live children) and after this recent one, I was able to get chromosome testing done on the fetal tissue. It came back 46,xy,add(8)(p11.2). Unbalanced rearrangement. A segment of unidentified add'l material attached to short arm of chromosome 8.

I am awaiting further parental testing on my husband and I as well as genetic testing. In the meantime I'm freaking out.

I noticed you said trisomy 8 was one of the more common ones. I'm finding very little info and what I DO find says it's rare.

Were you found to have a balanced translocation? I am just at a loss and worried we'll never be able to have a healthy, full-term child.

Any info you can provide would be helpful (in the comments here - I'll check back). Thanks so much. You have a beautiful family.