PGT-A testing. Why we did it and why I regret it. Part 2

All those years ago, I never thought my AP human biology class would come in handy. Today is the day!

I am not going to lie, I am exhausted by all of the articles, studies and posts I have read about mosaic embryos. I have even gotten my mother to fall down the rabbit hole with me and every 20 minutes she is texting me with a new article or paper written about the topic. Mike and I have been engrossed in our Mosiac Facebook support group and the success stories on their own are just mind blowing! It doesn’t take away all fear of early loss, but the consensus seems to be that if our baby girl takes, she will most likely be very healthy... and that’s enough for us.

This week we spoke to the genetic counselor and learned a little more about the “diagnosis”. The tests found a segmental deletion (q36.2-qter) on chromosome seven. In layman‘s terms, the very very tip of chromosome seven (from 36.2-36.3) on a portion of her cells. Of course they give you all the potential risks, lower rates of implantation or early miscarriage, but having a mosaic embryo does not mean you will have a mosaic baby. In fact, that has never happened! If they implant and continue to grow, the cells themselves seem to self correct and your rate of abnormality goes to about the same level that it would with any pregnancy.  They can’t tell us what the rate of implantation is compared to a normal embryo but since the deletion she has is minimal, and rather simple, we are hoping our chances are just as high as a transfer of our boy would be. (Baby girl, I hope that someday you do not read this and think you were not normal because we are all a little imperfect and what science defines you as means nothing to your daddy and I)

______________________________________________________

According to the RBMO Journal “While the collective transfer data still only comprises less than 500 mosaic embryos, it is clear that a high proportion of mosaic embryos have some level of developmental competence. Equally important, prenatal diagnosis follow up of the established pregnancies by amniocentesis revealed normal euploid fetuses indicating that the trophectoderm mosaicism originally seen in the blastocyst was likely of limited nature. All live births reported to date were healthy with no evidence of chromosome based syndromes. In addition, these studies revealed that outcomes were generally independent of the original chromosome involved in the mosaicism. 

Prior IVF outcomes indicated no elevated risks of chromosome disorders compared to natural pregnancies and so from the available PGT-A data, transfer of mosaic embryos appears to be a relatively safe option for couples, with low or minimal risk of negative outcomes for the pregnancy.” Which is amazing!

______________________________________________________

Michael and I have discussed it and considering there have been no live births to have resulted in any sort of abnormalities related to the chromosome found to be abnormal, we are looking forward to transferring our girl our next round. (Our doctors want us to give the other a shot first.) We are prepared if she does not take to know that it was just not meant to be. Although hard to fathom, we couldn’t just decide to discard her without giving her a shot. 

So where does that leave us? With all hope, at the end of March we will be transferring our little boy! Pray for sticky baby and a healthy pregnancy ahead!