Got the results of the genetic testing from the D&C

It was an abnormal female - she had 45 chromosomes instead of 46.  The paperwork said that this accounts for 99% of spontaneous abortions, which seems extremely high, but it comes straight from genzyme - the lab that did the testing.

I'm not sure if this is good or bad news.  I meet with my local RE in a couple weeks to discuss, and will also send the paperwork to HRC to get their opinion.  I'm still going to do the clotting and immune studies to be sure we're not missing anything.  Insurance shoud cover it and I'd hate to have another miscarriage and regret not being thorough.

Does anyone have experience with this?  I'm hoping this doesn't mean our 5 frozen girls have a greater chance of being abnormal too.  I also wonder if taking out the cell for PGD could contribute to this.  The nurse at the local REs office said probably not. 

We only did two probe, so we don't know the genetic makeup of the 5 frosties.  I'm not sure how many probes we would have had to have done to find this particular issue anyway.  I'd love to hear any insight into the liikelihood of my other girls being abnormal too.  Any thoughts?

I think you have a great chance with the 5 you have left and unless you had tested all of the chromosomes, you would not have known this.  Perhaps a higher panel could have picked it up, but that depends on what the abnormal was and whether or not FISH can pick it up.  You have 5 great quality blasts on ice.  I know one of those is your girl(s)!  I don't think they have any higher chance of being abnormal that what statistically they would given your age.  Look at all the girls that transfer 2 and end up with one baby- same thing might be true for them with the one that didn't take. 

nuthinbutpink:

I think you have a great chance with the 5 you have left and unless you had tested all of the chromosomes, you would not have known this.  Perhaps a higher panel could have picked it up, but that depends on what the abnormal was and whether or not FISH can pick it up.  You have 5 great quality blasts on ice.  I know one of those is your girl(s)!  I don't think they have any higher chance of being abnormal that what statistically they would given your age.  Look at all the girls that transfer 2 and end up with one baby- same thing might be true for them with the one that didn't take. 

I totally agree.  I am one of the ones who transferred 2 PGD normal XXs but only 1 took.  

KUP

 I also think you have a great chance for your FET.  If it was abnormal chromosomes then I am not sure you would need immune testing but if your insurance company covers it than I would go for it.  Most insurance companies don't pay for it and if they send it off to a lab like Millenova then they don't even accept insurance.  Make sure you check that out because it is pricey.  

The only way to know about all of the chromosomes is to do something like CGH with SIRM.  I think Dr. Potter had a trial with a 24 probe panel almost like SIRM has but as far as I know there hasn't been a pregnancy from it.  (no I don't know if that is completely true I just remember reading it somewhere so you would have to ask them).  Anyway, I think it was just a fluke thing and just part of nature.  I am glad you got the answer though but very sorry you had to go through that!

Michaela:

 Anyway, I think it was just a fluke thing and just part of nature.  I am glad you got the answer though but very sorry you had to go through that!

At least you got an answer though, you know??  It is not a good thing that happened, but there is a reason which I find comforting in some way.  I would prefer to find out there was something wrong with the embryo then be where I am and have no clue why mine didn't take.  Bad luck is all I am told.  Not very comforting.

nuthinbutpink:

Michaela:

 Anyway, I think it was just a fluke thing and just part of nature.  I am glad you got the answer though but very sorry you had to go through that!

At least you got an answer though, you know??  It is not a good thing that happened, but there is a reason which I find comforting in some way.  I would prefer to find out there was something wrong with the embryo then be where I am and have no clue why mine didn't take.  Bad luck is all I am told.  Not very comforting.

 ((Hugs)) -- I guess it is bittersweet to get the answer, because it is tough to know that this little embryo with all your hopes riding on it didn't have a chance, yet also you know that there is nothing you could have done to cause the m/c.

Twoboysandcounting:

The paperwork said that this accounts for 99% of spontaneous abortions, which seems extremely high

I would interpret this as meaning: most very early m/c are caused by chromosomal abnormalities; not that they are all caused by this particular abnormality.

Twoboysandcounting:

I'm not sure how many probes we would have had to have done to find this particular issue anyway. 

It depends on which chromosome it was.  There are supposed to be 46 chromosomes, in 23 pairs, and in this case there was one missing.  In PGD, the most commonly tested are 13, 15, 16, 18, 21,  22, X, and Y, becasue those are the ones that most often have abnormalities.  So it is possible you would have found it by testing those, but if it was one of the others it could have still passed PGD.  As a PP said, you would have to do CGH to check them all.

Twoboysandcounting:

I also wonder if taking out the cell for PGD could contribute to this

Given that nearly ALL very early m/c's are attributed to chromosomal abnormalities, I don't think you have to look to PGD as the cause.  The only way to find out would be if the PGD lab still has the original cell, and if that particular chromosome could be checked.    (It would be a good question to ask.)  

Twoboysandcounting:

I'm hoping this doesn't mean our 5 frozen girls have a greater chance of being abnormal too.

I do NOT think this spells doom for your other embies!   They may all be perfect!  Lots of pink dust to you.

Michaela:

...
 I think Dr. Potter had a trial with a 24 probe panel almost like SIRM has but as far as I know there hasn't been a pregnancy from it.  (no I don't know if that is completely true I just remember reading it somewhere so you would have to ask them).  Anyway, I think it was just a fluke thing and just part of nature.  I am glad you got the answer though but very sorry you had to go through that!

tiger ling:

we're doing 24-probe...  now i'm worried. 

i wish i'd known about all this sooner before we paid for everything...  the way i understood it was whether you do 2-probe or 24-probe, only one cell is removed, so i thought "what does it matter how many probes are done; either way only one cell is being removed?"   i wish i had done more research...  oh, this journey is so full of difficult decisions! i guess you're right...  there's no sense worrying while nothing has been done yet. 

tiger ling:

the way i understood it was whether you do 2-probe or 24-probe, only one cell is removed,

I believe this is correct, although we never considered the 24 probe so I'm not sure if there's any difference there.  I'm sure some other ladies can pipe in. I know for the 2 vs 5 vs 9 probe they only remove one cell.  We opted out of the higher probes because of the possibility of false positives.  I actually decided that I would rather miscarry than discard a potentially healthy embryo.  Now that I'm on the other end, I still think I made the right decision for our family.  Am I right that the 24 probe removes the possibility of false positives?  I'm not sure where I read this, but I know I've read it somewhere recently.

There is a difference between 24 probe PGD done by Gene Security and CGH done by SIRM's lab.  They only remove one cell no matter how many probes you do.  I can give you info on the CGH stuff if someone wants it but since we are talking about HRC here I won't post it on this thread.  So far at SIRM, CGH has resulted in about 70% success rate so the false positive being taken out could be true.  That I don't know.  CGH embryos are also not transferred right away.  It takes about 4-6 weeks to get the results back.  Just PM me for more detailed info if you want it.

for whatever reason, we were only given the option for 2-probe or 24-probe...  although, at the time of our initial consultation, i remember there were other probe(s) in between? this is going to be a long month...    

Tiger ling- 

I orginally paid for a 5 probe but went with a 2 probe.  You are not bound to the 24, just notify them.

Twoboys- I think you have a fantastic chance for your frosties.  Take care!