April 29, 2011

47 XY +13

At least now I have an answer as to why my twins did not continue to develop.  Forty seven chromosomes with an extra number 13 chromosome.  Both male.

The surgeon called me yesterday and left a long message.  Strange how I'd been waiting for that call for weeks but once I began to move on and hover less and less over my phone, he calls.  In a way I am glad I didn't have to speak directly to him.  As wonderful and caring as he was, I don't think I could have handled that, especially while waiting in line at Whole Foods.

I did find much solace in his statement, "It was nothing you did, not your fault in any way".  Those thoughts had been floating around in my head as I relived each "bad" thing I did during those happy weeks (drank caffeine, ate a hot dog, traveled by plane, used bleach).  He provided me with a number for the genetics department which I called this morning.  I should be getting a call back from a counselor by the middle of next week. 

Well, luckily the universe (or Al Gore) invented the Internet and I spent several hours last night consulting Dr. Google and any other website I could find that made reference to "Trisomy 13" and "with miscarriage" and "before healthy pregnancy". 

Unless the extra chromosome is a result of a translocation (meaning either parent is a carrier) then it is a result of a random occurrence when the egg met the sperm.  A small percentage result from the father but the majority are from the mother and are due to maternal age (the average age of women whose fetus has this is 31 - hardly AMA) and overall it's likened to stepping on a genetic land mind and just plain bad luck. 

"Unless one of the parents is a carrier of a translocation the chances of a couple having another trisomy 13 affected child is less than 1% (less than that of Down Syndrome)" is a statement I found at several scientific sites.  I am fairly sure I am not a carrier (just based upon the number of  my sibling's children and by the prolific number of offspring produced by both sides of my family) so I am assuming the issue is AMA.  I will of course follow up with the genetic counselor and get tested but for now the sentence above, which I found on several scientific sites, is providing me with some hope.

I understand that there are 22 other chromosomes which could technically be my own little genetic minefield (which seems to become more treacherous with AMA) but I am not throwing in the towel just yet.

I am wondering if IVF would be a better way to go and if genetic testing could be done after retrieval. I am woefully ignorant of the options IVF provides.  The learning curve regarding all I've experienced thus far has just about scrambled my brain but I am not done learning or questioning. 

Knowledge is power.  Painful, painful power.


  1. Yes, IVF with PGD would let you know that you were in all likelihood transferring genetically normal embryos. PGD doesn't catch everything; clinics like CCRM can do extensive testing.

    Thinking of you.

  2. I'm sorry that you have to go through this. But it is reassuring that there isn't something you did to cause the loss. I have no idea if IVF would be the best way to go, but it certainly sounds like it might be a good option. I'll be thinking of you.

  3. I am so sorry you had to go through this, but glad that you found the reason. Definitely a good call Not to get in line at whole foods! Thinking of you.

  4. You could ask about doing IVF with PGD as the commenter above said. I don't know what all it looks for, but I know that they said women with AMA are advised to it.


  5. This is a random event.. nothing that you did to cause it. Don't be too hard on yourself. PGD will not detect mosiac, and it also decreases implantation rate.

  6. I'm glad you got an answer. It wasn't your fault.

    After my miscarriage, I took 300mg of CoEnzyme Q10 twice a day after reading several studies that suggested that one of the factors that contribute to chromosomal abnormalities with AMA is decreased mitochondrial energy reserves (which is what CoQ10 is used for). I'm not sure if it really does work, but there is an IVF study going on right now looking at just that (and there was an IUI study with injectables, too, but it was cancelled due to low enrollment).

  7. "Knowledge is power. Painful, painful power. "
    What a wise and true statement!

    I am so sorry that you had to go through this, but am very happy that you have some answers and you are be proactive- this will only build more hope :)

  8. I'm sorry that you were in a situation to need an answer like this. It stinks. I hope that the information can give you peace and help you to make decisions moving forward.