Thursday, September 1, 2011

Turner Syndrome/Monosomy X

That's what our baby had. It's a chromosomal disorder where there is only one X Sex Chromosome. Normal females have XX, normal makes have XY, but Monosomy X just has the one X. My baby was considered female, and would have been female if she had survived.

While it doesn't make me feel better about losing my baby, I am somewhat relieved. Monosomy is more random than Trisomy (an extra chromosome) as Trisomy is usually related to age. It makes me feel better that this wasn't related to my diminishing egg quality. In fact, most cases of Turner Syndrome are related to the sperm production. Also, from what my RE told me, the second X chromosome was missing completely, where some Turner Syndrome babies have an incomplete X chromosome, and that would be scarier.

Apparently, 3% of all conceptions have Turner Syndrome, and 99% of those conceptions are miscarried. For some reason, 1% of these babies survive, however, they may have multiple issues, including infertility. Lord, I don't want my child to have to endure infertility. So maybe that's a good thing. Also, Turner Syndrome accounts for up to 15% of all miscarriages.

So, while I'm not happy that we lost our baby, I understand that it's not something I could have helped. Going through IVF before my eggs were so crappy wouldn't have necessarily made a difference, and any environmental factors that I was worried about wouldn't have helped either. Does that mean I'm taking a chance this next time around? Nope. Starting next week, I'm on operation egg quality. I'm running out of time to make this pregnancy thing happen.

I am still annoyed at my luck. 12% of all couples are infertile, and 3% of conceptions have Turner Syndrome. So a 0.36% chance that it would happen to us? Plus, many Turner Syndrome embryos never even make it to implantation or past chemical pregnancy stage. I guess that makes us really lucky. Probably not lottery winning lucky though.

Oh well, on to the next.


  1. I know it isn't great news, but it is so much better than something in you that did it. My husband has trisomy - XXY - and he wants to have our sone genetically tested just in case. So he knows in advance. Even though it is only a 1/1000 chance. Go Operation Egg Quality!

  2. Even though it doesn't change the outcome I am glad that you have an explanation - and one that doesn't diminish your confidence to try again.

    Do you remember the lost 2 weeks when we thought that Ada didn't have a brain? That was horrible. I was so careful and so clean when I was pregnant with Ada that I was pissed that something like this could happen anyway. The thing that so struck me during that experience was the fallacy I had let myself believe: that I had any control at all over the situation. I'm not saying that you should irresponsible for the next one and drink and take stuff and have tons of coffee. Just that sometimes super unfair shit happens even though we did our absolute very best.


    P.S. I'm off to email you.

  3. I'm sorry, and happy for you on this bittersweet news. I know a woman who delivered a daughter with Turner Syndrome and it broke my heart when Baby Marie died. I wish you the greatest of luck on your next round.

  4. Hi. We don’t know each other, but we have some mutual Nestie friends. I hope it's ok for me to leave a comment… I have two girls, and my first has Turner Syndrome. My second daughter has no chromosomal abnormalities. I just wanted to offer some encouragement to you about your egg quality. You’re right, there was nothing you could have done to cause the Turner’s, or prevent it. It’s just one of those random events.

    I am so sorry for your loss, but I wish you only the best as you decide what to do next.

  5. I'm sure its bittersweet to have an answer and sometimes I wish we had gotten one. I'm glad you're still motivated to succeed at this and keeping my fingers crossed for you.

  6. You have continued to be in my thoughts. All the best. <3


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