Triploidy XXY?

Cubslove12 · April 2016

Since this miscarriage was my second in a row my doctor had the tissue genetically tested. I received a phone call from him (He was on vacation and still made a point to contact me, I'm beyond impressed) tonight with the information. The baby had Triploidy XXY. I'm now being referred to a genetic counselor. Has anyone else gone through this?

SnobunnieMel · April 2016

We had a triploidy XXX along with 2 other chromosomal issues including tetrasomy of 11 and deletion on 1. My doctor said none of them were inherited and we didn't need to go through any further testing or need to worry about a repeat. From what I know it's more of a fluke thing in which gamete development there isn't proper division. Hopefully then geneticist can give you some good answers

edit: I know with XXX it's not lethal and people actually live with it without complications. That's not what caused our MC but rather the tetrasomy of 11

BrightenMySky · April 2016

Yes. My understanding is that triploidy is three copies of all chromosomes, which is basically always fatal (sometimes a really early loss, sometimes a stillbirth, and then all timings in between). Our baby was also XXY, and we were told it was of paternal origin, meaning most likely two sperm fertilized one egg. This is likely an egg issue where the egg did not prevent the second sperm, but as I understand from my RE, very unlikely to recur versus being a totally random occurrence. One thing that the OB told me was that triploidy of paternal origin is an indicator of possible molar pregnancy. I knew I did not have a complete mole because we did see a baby with a heartbeat, and then my OB said she did not think it was a partial mole based on the pathology report. The OB offered a genetic counselor, but we went through things with our RE and didn't feel the need to talk to anyone else. FWIW, the RE seems optimistic that we are unlikely to have a recurrence. I would of course feel better with actual proof of that in the form of a genetically healthy rainbow, but can't have everything, I guess, or at least not now.

Cubslove12 · April 2016

Thanks for the Info ladies!

@BrightenMySky I'm so sorry you also had to go through this. We have personally not yet gone to an RE, I LOVE my doctor and want to stay with him until it's necessary for me to find a new one. My doctor seemed to say the same things as yours did, however I really like to have my facts and he knows this. So he suggested I go to the genetic counselor, I think more for me to have all the information I could get. I'm also adopted so with the two miscarriages back to back I think further research could be helpful. *Even though I know triploidy is not hereditary, I don't know what caused my first miscarriage*

@SnobunnieMel I'm sorry you also went through this, when I was doing some research and I may be wrong but I thought all triploidy was lethal. I know there are other abnormalities with similar names like xxy which just refers to 47 chromosomes where triploidy has 69 chromosomes... I may be wrong though I have yet to meet with the geneticist.

I'm just grateful that after learning this information, that although I want my baby, there was an explanation for the miscarriage.

BrightenMySky · April 2016

Yes I also though triploidy is lethal. @SnobunnieMel maybe it was trisomy X? Triploidy is a full third set of everything.

@Cubslove12 we were seeing an RE because of trouble TTC, and we really like him. I did not like my OB and was actually planning to switch in my second tri, but then the baby died...but I had no desire to go back to the OB group, so it's just been more comforting to go back to my RE right away for my post-d&c appt, etc. (plus hardly any happy pregnant people in the waiting room...there is a certain empathy/solidarity in the RE waiting room, I find). We have a MFI issue (morphology), and my RE does not think it's likely that a sperm that was abnormal enough to have 2 sets of chromosomes was able to fertilize an egg, but it is a concern of mine in terms of likelihood of recurrence. Ultimately I will say I am glad to have the information, though. Basically our baby's cause of death.

Oh, I should add that we did the Counsyl family prep screen when we first started TTC because of a slightly higher prevalence of a few things based on our ethnic backgrounds. That was helpful info to have, not sure if it's something you've done or will talk about with the genetic counselor.

Cubslove12 · April 2016

@BrightenMySky we did do the counsyl also, I'm adopted so I was curious... It all came back negative, however I hear that the stats are not good on that test like you still have a high potential that you're a carrier even with a negative result.

SnobunnieMel · April 2016

Yes. Mine was trisomy X which isn't and tetrasomy 11 which was fatal as well

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