Tuesday, July 28, 2009

Chromosomal Testing results

I had my doctor's appointment today with Dr. N (the regular fertility guy, as opposed to the new one I'm seeing in two weeks.)

The chromosomal tests from the embryo are back, and the winner is...

Kleinfelter's syndrome. This is a rare chromosomal abnormality where there are 47 chromosomes instead of 46 - so, an extra X chromosome (so the embryo was an XXY rather than an XX or XY.) In case anyone is interested and knows a little more about this stuff, this is an extra chromosome, rather than a broken chromosome, which bodes better for our chances in the future.

Fetuses with Kleinfelter's syndrome can go to full term and lead (relatively) normal lives. However, it is a sex chromosome disorder and as such, it would have meant that the baby would not only have had some female characteristics as it went through puberty, but the syndrome almost always causes infertility. It's hard enough to be a kid in the world without being "different," but infertility on top of that - (obviously not an issue until much later in life) is something I would never wish on anyone.

That being said, even though I'm still sad to have miscarried, I'm definitely comforted by the thought that this particular miscarriage occurred because it was supposed to happen. Everyone is entitled to their own beliefs, but I still believe that the human body in general miscarries babies because they were not formed correctly. (No disrespect to people who have different beliefs.)

The good news is that according to Dr. N, this was a fluke occurrence. Apparently, Kleinfelter's syndrome is not hereditary so he sees no reason for us not to just "try again." He seems to think that we have just been really unlucky in rolling the dice. I'm not completely satisfied with that answer, but as far as he is concerned, we (my husband and I) should not have any chromosomal issues ourselves because if we did, we wouldn't have produced a normal child the first time.

So on we go to the new specialist in a couple of weeks. Now that we have the chromosomal tests back, I'll have much more interesting information to chat about with her. I'm really looking forward to getting a fresh perspective and seeing if the new doctor might see something that my current doctor might be missing.

Oh, and one thing that might be of interest to anyone taking a calcium supplement: I read in that book I was talking about a couple of weeks ago that Vitamins A and D can accumulate in your system and can contribute to miscarriage. Many calcium supplements have Vitamin D added to them, so if you're taking calcium, you should look for one without the added Vitamin D.

Next steps: Dr. G in two weeks, and then Clomid for our next cycle.


Anonymous said...

I know it must not be easy to have to worry about a chromosomal issue with future pregnancies, but I am feeling relieved you have somewhat of an answer and that it is not hereditary.

I am sending you good luck vibes on your next appointment :)

Anonymous said...

Thanks for the vitamin tip. I knew there was a reason I wasn't taking that and then at my annual he was all 'take that....blah blah blah' so I started again, but I'll get off again.

I'm so sorry for your loss but I am glad you got an answer this time, not that it makes it any easier, but perhaps.

Good luck with the new specialist. I hope he/she brings some positive energy and good vibes to your baby making.

Josh and I are doing an IUI this week and then back on progesterone....

wifey said...

glad you got an answer! that must be such a relief.

Azaera said...

I know what you mean about the inferility thing. And I'm glad the whole malformed embryo thing gives you some peace of mind. Unfortunately for me it just wouldn't work cause if I tried to comfort myself with that well my son shouldn't be here then.. And he too is unfortunately infertile as well. Which is something I don't look forward to explaining to him.

However it's good that it's not genetic and you have good chances with the next one! I hope you end up with a live baby next time.

Wifezzilla said...

wow - while i'm sad it happened, i also think it feels like some sort of relief to know that this was a fluke, and this was supposed to happen. regardless of beliefs.

so - back to square one. i don't mean to be flippant about it, but that's what it's like every month.

lots of luck and baby vibes.

Karen said...


I'm glad you found some hope.

Stacie said...

I am certainly glad that you received some answers. I hope the 2nd opinion goes well.

cheryllookingforward said...

I'm happy you have a reason - Like Yaya said, it doesn't make things better, but it helps.

Anonymous said...

I've been following your story for a while now and am in a similar situation. I've had two miscarriages and no children yet. We went through chromosomal testing because our baby had a balanced translocation. Fortunately, our chromosomes are normal.

The mom and dad each provide a set of chromosomes when they form a baby. Often, if you don't know you have a chromosomal problem, you will only have one set of chromosomes that are messed up, if you have any messed up chromosomes. Therefore, sometimes you can have a healthy baby.
My only point in saying this is you or your husband could still have a chromosomal problem even though you have a healthy son. (This is contrary to what your doctor said and is the reason I'm leaving a coment.) If you want a layman's explanation, albieit in terms of a balanced chromosome, read this blog: http://julia.typepad.com/julia/2005/05/balanced_transl.html

It will help you understand what I mean. This poor woman went through 12 miscarriages while trying to have her 3 kids. Her husband has a chromosomal issue, a balanced translocation.

I am not saying this to upset you, but to make sure you ask your doctor all the questions, and maybe demand chromosomal testing for you and your husband.

Good luck to you!