A little 101 for those not familiar with genetics. Each human cell has 46 chromosomes in 23 pairs. One member of each pair is inherited from the mother, the other from the father. Each chromosome contains genes, or instructions, that tell each cell how to develop and function. These genes also determine our characteristics and genetic disorders. When a chromosome is missing, it is called a monosomy. When there is an extra chromosome, it is called a trisomy. Most chromosomal abnormalities go undetected because they result in fertilization failure, implantation failure or early miscarriage. Imagine missing the instruction for cells to form a heart.
Here are the results:
|Embryo #||Day 3||Day 5||Day 6||CGH Genetic Results|
|7||8-cell grade 4||4AA Blast|| ||Normal|
|14||7-cell grade 4-||Morula||4BB Blast||Monosomy 3, Trisomy 12, 13, 18|
|19||6-cell grade 4-||Compacting||4BB Blast||Monosomy 19|
21 (from IVF#3)
|6-cell grade 4-||Early Level 1 Blast||4AA Blast||Trisomy 1|
As you can see, it was our best embryo that came back normal. It was the only embryo that was perfect at every step and developed right on schedule. If there would only be 1 normal, this is hands down the one we would have chosen. This embryo was labeled #7 by the lab. We rec’d the results on 7/7. Number 7 in the bible is the number of perfection/completion. This embryo is our lucky #7. Anytime I'm down, all my dh has to do is look at me and say "Seven" and I can't help but smile.
Number 14, 19 and 21 were not so lucky. I discussed their status thoroughly with the genetic counselor (GC). I probably asked the poor lady a million times, are you sure these embryos are non-viable? She assured me that none of these embryos would ever produce a baby. They would most likely never implant or would m/c very early.
#14 is severely chaotic having 4 chromosome abnormalities. They were really shocked that it even made it as far as blast.
#19 is missing a chromosome 19. Missing a chromosome is much more serious than having an extra copy.
#21 has an extra chromosome 1 which is very rare. Chromosome 1 is the largest chromosome and contains about 4220 genes. This is way too many extra instructions. This embryo was from a previous cycle (IVF#3).
I asked if these results indicate the reason why we haven't been able to conceive. She said that there doesn't seem to a specific chromosomal issue such as a translocation since all of the chromosomes affected were random. If there was an issue, you would see the same chromosome being affected on multiple embryos. She said this indicates what all of us women face with age, declining egg quality. It just takes longer and longer to find the golden egg the older we get. While my elevated FSH doesn't seem to indicate a quantity issue, it does indicate a quality issue. It appears that out of 23 eggs from IVF#3, none were normal and out of 20 eggs from IVF#4, one was normal. Uh yeah, Houston we have a problem. There is no way to know if the chromosomal issue came from the egg or sperm but it is most likely from the egg since my eggs are 36 yrs old and sperm are 3 months old.
I guess we got our answer as to why we haven’t been able to conceive – Kerry’s boys are swim-challenged and I have geriatric eggs dwelling in my assisted living ovaries. =)
The GC said the current statistics show that I have a 62% chance by transferring one normal embryo. There are other obstacles besides chromosomes that an embryo has to overcome such as surviving the thaw, enough mitochondria energy to keep dividing, a receptive lining and implantation. While I wish this percentage was higher, I do have more of a chance of this working than not working, so that's what I have to focus on. The GC said I do have a few things on my side that may bump that percentage up a little and that is my age and that the embryo was the highest quality possible.
Deciding to do the genetic testing was originally a very hard decision. While the results were hard to deal with, we have absolutely no regrets and feel it was a wise decision. While the chromosomal make-up of our embryos were defined at fertilization in hotel petri and the testing would not change their status, the testing gave us much needed answers and allowed us to make informed decisions that prevented more heartbreak and lost time.
Looking back, if we had not done the testing, this is most likely how it would have played out...
If you remember, I struggled whether to transfer our 1 frozen embryo from IVF#3 or cycle again to increase our odds. Now we know we made the right decision to cycle again. If we would have gone for the FET, I would have prepared my body for 6 weeks, pumping in more hormones. I would have traveled to Denver full of hope and excitement. I would anxiously await the dreaded beta only to end in another heartbreak. I would be another $6k in debt.
Next was IVF#4 where I made 3 blasts. I would transfer 1 at a time to avoid multiples since all embryos were high quality blasts. The doctor would select the highest grade embryo which we now know is chromosomally normal. Hypothetically I would finally succeed and blissfully give birth to baby #1.
In the meantime while I'm on cloud 9000, I'm paying storage fees and full of hope because I have 2 little potential playmates on ice.
The time comes to add to our family. We repeat that above and transfer one of our snowbabies. It fails. We repeat one more time with our last snowbaby. It fails. Devastation, $12k for FETs, $3600 to redo our expired workup and a whole lot of time lost that we could have been pursuing other avenues such as adoption.
While it was painful to come down to the end with only 1 chance, we believe a much more painful process was avoided.
I'm trucking right along in the prep for our FET. I've completed 16 days of BCPs. Thank God that is over with, those little pills make me eat alllll day long. Tonight will be my 8th night of Lupron, enjoying lovely headaches. I started acupuncture yesterday at CCRM's recommendation. To lower my stress level, she put 7 needles in each ear and 5 in my face. For improving uterine blood flow, she put 3 needles in each leg and 9 in my lower stomach. Now I'm just waiting for AF to show before I'm given my final schedule. I'm spotting so I assume she will arrive soon, hopefully.