This week I went to see my OB. My results from the testing on the baby and my blood tests were all in and it was time to sit down and go over them. Every time I go to my OB's office, I feel like crying now. Walking in there always produces waves of emotion as I remember the good and bad visits there during my pregnancies. It's tough.
The testing on the baby revealed two things.
1) It was a boy. I actually knew going in that we would probably find out the sex from this testing. I've been checking out multiple miscarriage forums for weeks doing research on what might be wrong with me and had seen that others had found out the sex from their testing, even when the fetus was only 6-7 weeks old. I don't know that finding out really changes the tragedy of the situation, but I do know that I've found myself thinking more about the baby as a boy more since hearing this.
2) The cause of death was Trisomy 22. Basically, the baby is supposed to have two of the 22nd chromosome and it had an extra one from one of us. If you clicked on the link, you can see that there are a few versions of this that are not fatal, but ours had the complete trisomy 22, in which every cell in the body had it, which means it was fatal. If I had somehow managed to carry to term (unlikely), the baby would have died shortly after birth. Knowing this makes me glad it happened early instead of later in pregnancy or after birth. I still have a lot of questions about how likely it is that this will occur if I get pregnant again though.
My blood tests were basically all normal except that I tested positive for some kind of autoimmune issue. Apparently the panel is general, so it didn't say what autoimmune issue I have. My doctor recommends further testing with a Rheumatologist to see what it is, but said it most likely didn't contribute to this miscarriage, the trisomy is still the cause of death. I stillneed to get this addressed though so that it doesn't cause problems in the future.
My doc also recommends that both of us get genetic karyotyping done to see which one of us is the carrier of the extra chromosome that caused the trisomy.
After sitting on this information and trying to process it for a couple hours, I decided to make a call to a Reproductive Endocrinologist and make an appointment. I've been debating doing this for a while. On one hand, my OB is pretty awesome. I've read stories about OBs that won't perform tests or give certain treatments, and are generally hard to work with when it comes to fertility issues. Mine is proactive and has been brainstorming ideas, running tests, and coming up with game plans for me. Still, I just feel like at this point, I need to talk to an expert on this. The information I have now is kind of confusing. I'm a unclear at how likely it is that we will have this trisomy issue again if we try natuarally. I'm also worried about when/if I do get pregnant again, because I don't feel like my OB's office in general is very proactive about monitoring and testing at the beginning of pregnancy, and I want that next time to make sure people are checking my levels and giving me treatment if I need it instead of doing the standard check ups. I'm facing the fact that I'm a special case at this point, and I'm probably going to need closer treatment to keep a pregnancy. I just think an RE can better handle this.
So that's where I'm at. I have some more test being run and a pending appointment with an RE to see if they can help me. I still think conceiving again is a ways off though, because I have to wait a couple cycles and we have a lot to figure out.