Pre Genetic Testing?


#1

Hey all

I am considering having pre genetic testing done for my 4th and final IVF in march/april. Has anyone had this done? Is it worth it? Any thoughts please share!

Thanks in advance
Maverick


#2

Not sure if you are referring to genetic testing on you, or pre-implantation testing on your embryos. Assuming it is your embryos.

We did PGD(now called PGS) on all 3 of our cycles, but that is because I have a known chromosome translocation. The third time we finally got pregnant, and I’m glad that we had the PGS done because we know that our little girl is chromosomally balanced. In our case though, we had a known genetic issue and my wife was young and produced 25+ eggs. It could be a tougher decision if you’re working with only a few eggs, but may be worth it if you’ve had repeated losses.

I’m assuming that you and your partner have had all of the genetic screenings done on yourselves and everything came back good?


#3

Can it only be done on fresh embryos or can you choose to do so after freezing?


#4

We had PGD testing done this last cycle - due to finding out I’m a carrier (see signature). They ran genetic testings on both myself and DH due to reoccurring miscarriages. Something you might want to look into if you haven’t already done so.

flowerstar - I asked the same question because we have 1 frostie from the first cycle. My RE said they won’t test because if they need to re-freeze the likely hood of the embryo making it is very small.


#5

Either way, depending on your clinic. Some clinics will do blastocyst biopsies only in frozen embryo protocols because the turnaround time might be too long (it varies). Others will offer fresh or frozen transfer after blastocyst biopsy. If it’s a day 3 biopsy, then any clinic can do a fresh transfer because there are 2-3 days before they need to transfer the embryo(s).

PGD/PGS can be used to screen out specific diseases, like cystic fibrosis. It can also be used to look for translocation, but most commonly is used to select embryos with the normal number of chromosomes.

If a patient has many embryos, then PGS can help to find the best among them. If there are only a few, then it should already be obvious.


#6

[QUOTE=Ghost]

If a patient has many embryos, then PGS can help to find the best among them. If there are only a few, then it should already be obvious.[/QUOTE]

We actually had different experiences than this. In our last 2 cycles we had 5 biopsied for PGS the first time, 6 biopsied the 2nd cycle. In both of these our embryo that looked the least fragmented/best number of cells, was actually unbalanced as far as chromosomes. Our normal embryos were some of worst looking ones. My wife is now 24 weeks pregnant with what was a grade 4 (the worst grade at our clinic) embryo that we would have likely never transferred without the PGS.


#7

I agree with MDH–from what we read the chromosomes that are graded the highest and the ones that are chromosomally balanced aren’t necessarily the same.

We did PGS on only two embryos. We had experienced a chemical on our only other ET and our RE said that most likely it was bc they embryos had chromosomal abnormalities.

We used Natera. The cost is $375 to ship them and then $1500 for the testing on up to 8 embryos. My clinic charged $2500 for doing the biopsies.

Our embryos were biopsied on day 6, the biopsies sent to Natera and the embies frozen. One was normal, so that one was thawed and we had a FET last week. Right now I’m getting a strong HPT positive with my 1st beta tomorrow.

I’m 38 and DH is 42. So for us, the potential for trisomies was about 50% so this made sense for us to do. Now that the one that was transferred has been tested, our chances for miscarriage/chemical are lower and i have much less anxiety.

It eliminates transferring ones that aren’t going to survive anyway and you don’t have to have the anxiety or potentially go through the horribleness of losing the pregnancy as a result of an abnormality.

I say if you can afford it, and it’s still possible to do at this point, I’d do it personally. I’m very glad we did.

Best of luck to you!!!


#8

That is unexpected with the more typical types of errors (aneuploidies) and with blastocyst transfer, because aneuploid embryos are usually of poorer morphology than euploid embryos, but not always. Translocations are rare, but in patients with translocation, we have seen what you describe (best embryos being non-viable). Also, an embryo of very poor grade (the “worst” grade in your case, heavily fragmented/few cells on day 3) would not be expected to implant regardless of genetic viability.

Let’s start a little glossary:

Euploid = normal number of chromosomes
Aneuploid = not euploid
Aneuploidies = Errors in the number of chromosomes
Translocation = Genetic material appearing on a different chromosome than expected (a piece of a chromosome is attached to a different chromosome).


#9

sorry for the hijack - but, Ghost are you saying that genetic testing can be done on a blast that is already frozen?


#10

Nevermind. I found this. Tyler Medical Clinic :: Outcome of preimplantation genetic diagnosis in frozen-thawed embryos

Looks like it can be done, but it may be harmful to the embryos.


#11

Yes.

I don’t know how many clinics offer it.


#12

I am planning to do PGD due to a known single gene mutation I have… for us, though, we have no choice since we do not want our child to carry the mutation (it predisposes one to colon cancer and uterus cancer) I have. We are working with Genesis Genetics. Statistically 50% of embryos we biopsy will carry the mutation… so we are planning to do 2 cycles of egg retrieval, biopsy the embryos after each cycle, freeze the embryos, and then have Genesis do PGS on biopsied cells from both cycles together (it saves us money since the lab has a one time PGD fee of $3850 regardless of the number of embryos being screened)

I am doing my stimulation (first of two retrievals scheduled) right now, tomorrow is my first monitoring ultrasound… I am keeping fingers crossed… I need as many healthy eggs as possible… the odds of eggs turning to healthy embryos, then embryos going through PGD and not carrying the mutation, and surviving freezing and thawing (my clinic does 5 day biopsy and therefore all embryos need to be frozen)… doesn’t seem very high. But still hopeful!


Me: 33, single gene mutation, hysterectomy (endometrial cancer), AMH 2.6, FSH ??
Husband: 36, normal
Married: 2010
TTC for about a year before we learned of my endometrial cancer in January 2012
Hysterctomy in October 2012
Looking to do PGD, FET, and Gestational Surrogacy…

IVF #1, August 2012 before Hysterectomy
8/25/2012: Started stimulation 225 iu Follistim + 75 iu menupor once a day
8/29/2012: ultrasound only showed 2 follicles on each ovary - 4 total, increased dosage to 300 iu follistim from 225 iu
8/31/2012: Cycle canceled due to low estrogen level and not enough follicles

Hysterectomy in October

IVF #2: February 2013
doing micro lupron protocal
1/20/2013 - 1/30/2013: BCP
2/2/2013: lupron 20 iu in the morning, 20 iu in the evening
2/4/2013: Twice a day, cocktail of [lupron 20 iu, 150 iu Gonal F, 75 iu Menupor]
2/8/2013: first monitoring ultrasound scheduled
.


#13

We did PGS on our frozen embryos

I just wanted to add here that we are doing PGS on frozen embryos. We don’t have any genetic history of problems, but being 39, we wanted to see if we could avoid miscarriages due to chromosomal abnormalities by doing this. It took a lot to convince our clinic to allow us to do this after they were frozen, but after our IVF didn’t take we had 8 (Day5 blasts) frozen embryos to work with. Since 50% of my embryos are likely to have problems because of my age we thought it was worth it.

My RE says there is no data supporting that this method will yield a higher pregnancy rate but I don’t see how that’s possible. Other than the trauma of the biopsy and thaw/refreeze/thaw. We’re so fortunate that all 8 survived the thaw/biopsy, now we’re just waiting for the results and hopefully FET on 4.11.13.

Also, the method our lab is doing to test is called aCGH not FISH which seems to not be so successful.