Saturday, June 15, 2013


No, this post is not about balancing life and infertility, which is a constant stuggle and a topic I could write several posts about (and am working on writing!), but rather genetics.

I think I have mentioned that my husband and I are not "out" about our infertility. However, after our miscarriage we looked to his family for support. I was talking to my sister-in-law last night, who has had several miscarriages in the past but now has 3 children, when she stated: "don't you know about the genetic mutation that runs in the family?" Why no, in fact I did not know.

It turns out K's older brother and one of his older sisters have been tested (after several miscarriages each) and are carriers of the same large balanced translocation. This can happen randomly, but considering they both have an identical translocation, it is likely genetic, which means one of K's parents is a carrier of the balanced translocation as well, which would mean K has a 50% chance of being a carrier.

The good and bad news is that the translocation is very large, so unbalanced embryos have genetics incompatible with life. K's sister-in-law shared that she has had 9 miscarriages and they all happened before 8 weeks (except in one of her early pregnacies where she learned at a 12 weeks ultrasound that she had a missed abortion and the embryo had stopped growing around 8 weeks.) It's unfortunate that the mutation causes miscarriages, but "good" in that the miscarriages occur early and since it is incompatible with life, it doesn't cause children to be born with serious health conditions or problems.

K's sister-in-law also shared that she and K's brother were patients at the same RE clinic we are patients at. They were going to do IVF, but had to wait 5 months due to scheduling, and concieved their second child with IUI + femara while waiting.

Overall, I am not sure what to think about all of this information. Our 2 blasts that we have left can't be tested since they are already frozen. I am planning on transferring them both in July (btw I got my period today on my own) and hoping for the best. However, now that I know about the translocation, I will be very hesitant to embrace the pregancy (if I get pregnant) till we get past 8 weeks.  Moving forward with future IVFs we will have 2 options, we can test K for the translocation or we can do PGD on the embryos. We have the shared risk program with this round of IVF and I don't know if K being a carrier of the balanced translocation would exclude us (which would really, really suck if it did).

There is still a 50% chance K isn't a carrier of the translocation, but I am afraid he is given what happened to bean sprout. Bean sprout could have had a random genetic mutation by chance, but what happened with my pregnancy sounds a lot like what happened to K's sister-in-law with many of her miscarriages.

Other considerations: if K is a carrier of the balanced translocation 50% of his sperm will be unbalanced and create embryos incompatible with life, 25% will be completely normal and make normal balanced embryos, and 25% will have the balanced translocation resulting in embryos that are balanced (like K's brother and sister) but will be carriers of the translocation. Here is a picture:

If K is a carrier, in our cause all of the "unbalanced" would result in early miscarriages.

I'm trying to reassure myself that our IVF resulted in 3 good blasts. Even if K is a carrier only 50% of the embryos created with his sperm should result in unbalanced embryos. Thus, at least 1 of the embryos should be normal. However, we do have the confounder of ICSI. So I hope that the scientist who picked which sperm to inject into my eggs picked the right ones!


  1. I know you're not "out" about your infertility, but did no one think to tell you guys about this? Even if they didn't know you were trying, just a "hey our family has this mutation just in case you guys are thinking about trying for a family" would have been helpful.

    Anyways, I guess the silver lining is that you found out now, before you did too many rounds of IVF. I hope that one (if not both!) of your blasts are healthy and result in a happy and healthy pregnancy in July.

    1. I wonder why no one mentioned it either. I even had talked to his sister who has the balanced translocation back in December and told her we were having trouble getting pregnant.

      It's good we found out now, but I'm scared about my blasts. I hope at least one is ok. I'm afraid of having another nonviable pregnancy :(