Monday, December 12, 2011

Need advice (post on male aneuploidy)

I'm about 2 months (maybe) from my next IUI and soon, I'll have to make arrangements to ship my donors swimmers over to my new clinic. That brings me to an question that has been brewing in my head for almost a year now.

My second pregnancy loss was because my child had Turners Syndrome, she had only one X chromosome but lacked the other (either X or Y) which determined gender. Whether it was the egg that came without an X chromosome, or a sperm without an X (or Y) chromosome haunts me.

The genetics counselor I met with told me that in Turner's syndrome, 70 % of the time,  its the sperm that turns out to be the culprit. Still you can't say. There are times I kick myself that I did not pursue this question further, I had the means, I could have probably sequenced my DNA and the baby's DNA, that might have provided the answer.

Give that in a healthy, fertile male, only 2 % of sperm have numerical chromosomal errors, if it had been a defective sperm, you can say it was either random, colossally bad luck, or the universe really, really did not want me to have a baby at that point.

What worries me is: what if it was from a bad day, where the frequency of chromosomal errors was higher that average? This fear is kind of baseless-- studies have compared aneuploidy rates in men with male infertility (which my donor has absolutely no risk of suffering from, he seems to be really good in this department)--- aneuploidy rates are about 18-24 % in men with different kinds of male infertility and 2 % in normal controls.

So though there is not much basis for it, I'm wondering whether I should check that all my donors vials are from the same day, and if possible, use a different day's lot, though a) this might require a lot of digging and b) might even mean added expense. Rationally, I know there is no real need for this, but the niggling fear remains. What would you do?

We know nothing and can control nothing-- the question is- to what degree do you make peace with far do you go to try to control the uncontrollable?


  1. I was in the midst of getting DFI done for sperm on the Mr. because it can be a factor that no one bothered to check. It wasn't until I put him on the vitamin regimen of antioxidants that we had two somewhat normal results. The current I hope is really normal, but the jury is out.

    A different day would haunt me and I suspect that without ruling that part out, this information will haunt your next attempt. It's not uncontrollable, just eliminating a variable or introducing a new one. That all said, it might make very little difference, but I think having some thought of control can be helpful.

  2. I have a feeling that finding the day of donation is really easy - they will have it on file.  Anything that makes you feel better!

  3. Wow, I would think that this is wear all of your knowledge actually could become a hindrance rather than a help because you know SO much you know all the different factors that could cause a variance and really who would be able to prevent all the brain stewing.  I think you just have to do what will give you the most peace of mind. Not what you think is best or most appropriate but what will allow you to sleep better at night after the next IUI? 

  4. Wear?  Sigh. *where.  I also had a terrible time with punctuation in that comment.  Commas and question marks are on my shit list I guess. 

  5. I would most definitely investigate this, and try to get from a different day (a different month, preferably). I don't know if Turner's syndrome, if caused through paternal factors, is affected by "environmental" changes (hottub, head cold, etc.)? But if there's any chance I would go for a different batch. I know that Mr. D's SA's showed pretty wide variation over time, both in terms of quantity and quality. And, especially, DNA integrity.

    (By the way, BBC News is reporting on the link between Vitamin D deficiency and MS...which I found very interesting. Not sure if you saw it.)

  6. Thanks. I think I'm going to do that.

    On vitamin D,  I have not seen that report, but I've seen a lot of others like it.MS is an autoimmune disease and a vitamin D deficiency is, without any
    doubt whatsoever, a strong contributor to the process that results in
    full blown autoimmune disease.

    You should check this one out..

    The comments are down, but last I checked there were over a 1000 comments, many of which talked about how vitamin D had helped them, and the trend was that people with autoimmune disease (MS included) and depression and pain syndromes seemed to have the maximum benefit from supplementation- I was pretty startled at how much some of them said it helped!

  7. I'm all for anything that relieves even a little bit of stress during the IF process, so if you're able to find out the donation date and use sperm from a different date, I'd say go for it.

    That said, our 4th pregnancy (the only other one out of the 7 with a heartbeat, other than our current one) turned out to be a complete Turner's Syndrome case, which is what it sounds like yours was as well. (Complete meaning the second gender chromosome was completely missing.) Both my ob at the time and RE said that it is the most common chromosomal abnormality in pregnancy, that it is completely random, and that there's no increased risk of it happening another time.

    That embryo was one of the last 3 transferred from our first IVF. We went on to a different clinic and did 2 more retrievals and did CGH on both of those batches. (We didn't do PGD during the first IVF, and CGH wasn't available at that point.) Out of the 31 embryos biopsied from those last 2 retrievals, 12 had abnormalities, 4 were undetermined, and 15 were normal. Of the 12 abnormals, none of them had Turner's Syndrome. Interestingly enough, several of them (I think 4 or 5) had an issue with the 22nd set of chromosomes, some of them missing one of those two, and in at least one case, there was one extra 22...

    So, I wouldn't be overly stressed about a recurrance of Turner's, but I do understand why it's helpful to feel like you're doing something "different" with the next cycle if possible. I wish you the best!

  8. Thanks Rebecca.  Yeah-I agree, Turners is far more random than the other aneuploidies, probably because the majority of he time, its a really random sperm error (the genetics counselors  take was that monosomies are more likely to be sperm errors, while trisomies are egg errors).

    I'm just stressed because if it was a random sperm error, I don't want to use that very same batch again. Thankfully, now I think I can avoid it:)