preimplantation genetic testing


#1

Hi ladies!

I’m coming here for your help. My doc does not seem to have much detailed about it, just seem to be convinced that we might benefit from it.

I had ivf with 9frozen embryos. We transferred two and got one baby boy in 2011. Since then I has two failed fet, one on march and one in may. Both ended in miscarriage. We have 4 more left and thinking about pgs, however I know nothing about. How is it done? What are they looking at? What report do they give back? Is it helpful at all?

Thank you


#2

Really? No one has done pgs?


#3

I looked seriously into genetic testing via CGH, a newer form of testing. Here is what I know, hope this helps!

They remove a few cells taken from a blastocyst. These cells are sent off to be analyzed and results are back in a few days. The results you get are like a list - each chromosome is listed with a result, either OK or a problem (like only one chromosome). Essentially, you will be told which are normal and should be transferred, avoiding a miscarriage due to a chromosome abnormality.

There is some risk of a false-positive or false-negative. There is also a small risk of damaging the blastocyst when they take the cells. The cost quoted to us was about $4,500.

Since your embryos are already frozen, it is more complicated. I think they would need to be thawed, cells removed, re-frozen and then you wait for the results. Some places promise a 24 hour turnaround on genetic testing but I’m honestly not sure how that would work with already frozen.

Your doctor really should be able to speak with you in detail about this! Also, I would ask about how many biopsies are performed in the lab. If doing this is “rare” in your doctors practice, the embryologist will not have had much experience with doing the biopsy.

Best of luck as you sort this out.


#4

[quote=Hopeful_in_CA]I looked seriously into genetic testing via CGH, a newer form of testing. Here is what I know, hope this helps!

They remove a few cells taken from a blastocyst. These cells are sent off to be analyzed and results are back in a few days. The results you get are like a list - each chromosome is listed with a result, either OK or a problem (like only one chromosome). Essentially, you will be told which are normal and should be transferred, avoiding a miscarriage due to a chromosome abnormality.

There is some risk of a false-positive or false-negative. There is also a small risk of damaging the blastocyst when they take the cells. The cost quoted to us was about $4,500.

Since your embryos are already frozen, it is more complicated. I think they would need to be thawed, cells removed, re-frozen and then you wait for the results. Some places promise a 24 hour turnaround on genetic testing but I’m honestly not sure how that would work with already frozen.

Your doctor really should be able to speak with you in detail about this! Also, I would ask about how many biopsies are performed in the lab. If doing this is “rare” in your doctors practice, the embryologist will not have had much experience with doing the biopsy.

Best of luck as you sort this out.[/quote]

Thank you Hopeful. This is what makes me think, the whole thawing, refreezing,thawing again for transfer…this is too much of manipulation with such tiny organism for my comfort level. I am afraid of the damage during this process too…


#5

[QUOTE=Leksi]Thank you Hopeful. This is what makes me think, the whole thawing, refreezing,thawing again for transfer…this is too much of manipulation with such tiny organism for my comfort level. I am afraid of the damage during this process too…[/QUOTE]

There is a thread on this forum that is all about genetic testing. You might find some more information there from women who have been in your situation. I’d ask a lot of questions of the doctor and especially the lab where they are frozen, you don’t want someone trying this for the first time.


#6

Natera

Here is the link to the facility we used. PGD, NIPT, Miscarriage Testing | Natera. Hope this helps! Good luck!


#7

What day is your embryo?
If you have blastocysts, you can still get results within 24 hours. I did that with my fresh cycle. You have to talk to your clinic if they can do this. What would happen is the clinic will thaw your blastocysts, overnight the cells to the PGD lab (our clinic use reprogenetics in NJ) to be tested. The results will come back by 11 am the next day. You do have to pay more to do it this way (i think we paid about $2500-$2800 total not sure if that includes shipping or not which is several hundred dollars). The price is good for up to 8, and if you have more than 8, you just pay additional (cant remember what though i have it at home).

Now if you have day 3 embryos then you definitely will have plenty of time to get the results back.

Freezing, thawing and refreezing can cause damage to your embryos, so keep that in mind.

One thing you can do (if you have not done it) is to freeze your embryos as soon as they fertilize (at 2 PN stage). There are various literature saying that if you freeze them at this stage and then thaw and refreeze them later to do PGD the risk of damage is very small since at this stage they’re like fresh embryos. I did that with one of my cycles but unfortunately all of them were abnormals but they all thawed successfully.

The report will say normal or abnormal (if abnormal, what cause it, ie trisomy, monosomy etc) and then the gender (xx or xy).