In reading through this, you might be getting a picture that things aren't normal for me.
I've had three miscarriages: not normal.
I have an AMH of .406 at age 36: not normal.
My SIS and HSG results showed something really off in my uterus: not normal.
My uterine lining was <5 mm the day before ovulation: not normal.
In light of this, the results of my karyotyping, which arrived yesterday, should come as no surprise: not normal.
Specifically, I have a balanced pericentric inversion of chromosome 9. The break points are at p11q13. Apparently this is just about the most common chromosomal error in the general population. Oh boy. I guess that means I'm normally abnormal?
What does this mean? Well, going back to biology class, you might recall meosis, the process whereby gametes are created. In my case, during meosis, the chromosome 9 that became mine broke at the centromere, and then again in each arm. Instead of rejoining correctly, it flipped itself. So if " | " is the centromere, the chromosome should have been: A B C D E | F G H. Instead, mine is: A B C F | E D G H.
On the upside, this is the best of all genetic errors to have. If it was a translocation, we'd only have a 33% shot of a normal or carrier offspring from each oocyte. Pericentric inversions aren't nearly as bad, in fact the majority of people conceive successfully. Alas, they increase the chances of unbalanced rearrangements during meosis, which in turn increase the chances of miscarriage and other problems. Depending on which study you read, the risk of miscarriage increases by anywhere from 1 to 30%. No one bothers with stats on birth defects, but those are higher, too.
So, I wait for my doctor's opinion, but I expect to proceed with injections starting tomorrow. Wish me and my broken genome luck?
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