Genetic testing results are back + a MFI question (long).

DebateThis

My midwife called me w/ the genetic testing results from the m/c today and it appears the baby had triploidy, which is when the baby has a complete extra set of chromosomes, resulting in 69 chromosomes instead of the normal 46. It's rare (1-2% of pregnancies result in triploidy) and most of the time it's a fluke.

All that being said, I have a question - has anyone else had MFI issues linked to a genetic defect? I've found several studies that seem to indicate that infertile men (specifically those who have motility/morphology issues) have a significantly higher occurrence of babies w/ triploidy due to more of their sperm having duplicated genetic material (two sets of genes in the sperm head rather than the normal one).

We're going to be scheduling a consult with a genetic counselor soon but I was just curious to see if anyone else has come across this. 

TIA.

 

kellyrn9956

We have MFI and my mc was due to triploidy. Not sure of the connection but RE felt quite confident that it was a random fluke. 

DebateThis

I should say I am asking bc I haven't seen the report yet and the MW didn't feel comfortable answering any of my questions. I know that maternal-linked triploidy is almost always a fluke (due to too much genetic material being present in the egg that is fertilized) but if it's male-linked there are a lot more what -ifs. I'm just curious at this point, until we get more info.

laurenli83

I don't have an answer, but good luck with your appointment.

notquiteblushing

No knowledge to share but I'm glad you were able to get some information that hopefully can help you moving forward. 

maggie2324

I think it would be very very rare for a defective sperm (one with 2 heads or otherwise has 2 sets of genetic material) to penetrate an egg. Having 2 different sperm penetrate the egg is much more likely, which I don't think could be attributed to MFI.

Im guessing the studies you've read are biased in some way, or that MFI makes it more likely to have 2 sperm penetrate the egg for some reason. I would chalk it up to a fluke personally.

kellyrn9956

DebateThis:

I should say I am asking bc I haven't seen the report yet and the MW didn't feel comfortable answering any of my questions. I know that maternal-linked triploidy is almost always a fluke (due to too much genetic material being present in the egg that is fertilized) but if it's male-linked there are a lot more what -ifs. I'm just curious at this point, until we get more info.

My RE said that the very likely scenario is two sperm entering one egg. It would be much less common for either egg or sperm to contain an entire extra set of chromosomes. Possible, but it's the zebra, where the two sperm penetration is the horse.

moosegal

ETA: Siggy warning -- thought I was on TTCAL...and sorry for the duplicate post below. I'm a big bunch of fail today! 

kellyrn9956:

My RE said that the very likely scenario is two sperm entering one egg. It would be much less common for either egg or sperm to contain an entire extra set of chromosomes. Possible, but it's the zebra, where the two sperm penetration is the horse.

I agree with this. Our loss was also attributed to triploidy, but it wasn't in the report whether it was maternal- or paternal-linked. My RE also said it was most likely caused by 2 sperm penetrating one egg and that it was totally random. I've had so much crap to worry about with IF that I was actually glad to hear it was a random event and not something else to add to my list. I'm glad you were able to get an answer, even if it's left you with a few more questions.

 

moosegal

moosegal:

kellyrn9956:

My RE said that the very likely scenario is two sperm entering one egg. It would be much less common for either egg or sperm to contain an entire extra set of chromosomes. Possible, but it's the zebra, where the two sperm penetration is the horse.

**ETA siggy warning -- sorry, I thought I was on TTCAL! 

I agree with this. Our loss was also attributed to triploidy, but it wasn't in the report whether it was maternal- or paternal-linked. My RE also said it was most likely caused by 2 sperm penetrating one egg and that it was totally random. I've had so much crap to worry about with IF that I was actually glad to hear it was a random event and not something else to add to my list. I'm glad you were able to get an answer, even if it's left you with a few more questions.