We learned that I have t(1;5)(p31;q21) after our PGT-A results, so we will be doing a PGT-SR test to our PGT- A euploid embryos. Considering the size of the translocation, how likely do you think it is that the results will be fine?
Our PGT-A euploid embryo (tested by Igenomix) was later found to have a 10.7 Mb deletion on amniocentesis. Afterward, we requested the raw data files and received PDF plots in which the deletion appeared to be visually apparent.
What I'm trying to understand is whether fertility clinics generally review these underlying files when deciding which embryo to transfer. In our case, all three "euploid" embryos were Day 6 embryos with the same morphology grade and quality.
When there is no obvious difference between embryos, do embryologists essentially choose one at random, or do they ever use the raw PGT-A data as a tiebreaker when selecting an embryo for transfer?
Thanks!
I had three PGT-A euploid embryos. One was transferred, and six weeks ago we had to undergo TFMR after an amniocentesis revealed that our baby girl had a 10.7 Mb deletion. In theory, this should have been detectable by Igenomix, as their reporting threshold is 10 Mb, but it was missed.
Afterward, we had karyotyping done and learned that I am a balanced translocation (BT) carrier involving chromosomes 1 and 5. The BT was unrelated to the deletion, which occurred on chromosome 2 and is believed to have been a rare, random, unexplained event. Interestingly, the embryo I was pregnant with was not affected by my balanced translocation.
Finding out about the deletion and then discovering that I am a BT carrier felt like being struck by lightning twice.
Now my two remaining PGT-A euploid embryos need to undergo PGT-SR testing. If they are not truly balanced/euploid, I may need to go through additional IVF cycles. An Igenomix genetic counselor told me that at my current age (39), approximately 61% of embryos would be expected to be aneuploid due to age alone, and that the balanced translocation further reduces the likelihood of having transferable embryos by 30%. which brings me having 9% transfarable embryo ratio.
What makes this even harder is that I already had a low ovarian response when I was younger. Three years ago, at age 36, I retrieved only six eggs in a cycle. Because of that, I am not very optimistic about doing additional egg retrievals at 39, especially with low AMH.
I pray every day for my two remaining embryos, which were created from eggs retrieved when I was 36. At the same time, I am terrified that I may never have another euploid embryo again because of my age, BT status, and low AMH. I am trying to accept the reality of my situation, but it is incredibly hard.
I would really appreciate hearing from anyone who had PGT-SR performed on embryos that had previously been labeled euploid by PGT-A. Did the results change?
I am also struggling to trust PGT testing right now, since my PGT-A euploid embryo was later found to have a 10.7 Mb deletion. I understand that no test is perfect, but this experience has left me with a lot of doubts.
I would be grateful to hear your stories and experiences.