Before I went into D&E surgery on 1/24/2011 after the second m/c, M and I cornered the doctor and insisted on testing of the extracted tissue to determine if there were any chromosome abnormalities on the embryo. Everyone kept telling me that chromosome abnormalities account for the majority of miscarriages, and I wanted to test the theory on us. We were not going to take anyone's word for it, we needed to see the evidence.
A few weeks after the surgery, we went for a follow up with our doc to talk about the test results. We were surprised (but not really) to hear that the results revealed a chromosome abnormality on the embryo, specifically, additional genetic material on chromosome set 7 (see the "chromosomes" tab for a tutorial on genetics a la 9th grade biology). The doctor assured us this was just a case of "bad luck" and we should wait a few cycles and try again. M insisted that we each have blood work to test for chromosome abnormalities, and the doc reluctantly agreed. So we spent Valentine's Day 2011 getting vials of blood taken in order to rule out genetic issues (for both) and blood disorders (for me) related to our miscarriages....how romantic!! :-)
A week or so after our Valentine's Day blood-fest, the results were in. M's was squeaky clean - he is a lovely specimen - no chromosome abnormalities! However, my results showed a chromosome abnormality on set 7 (the same issue as the embryo), specifically, an inversion. Next stop was the genetic counselor, who was able to explain exactly what I had and how it affected our ability to have children.
My inversion on set 7 is a balanced, pericentric inversion that spans approximately 80% of my chromosome. This means that I have all of the genetic material I SHOULD have, just in a different place than everyone else. We can speculate that the inversion was spontaneously created during my own prenatal development ("de novo"), and not inherited, since my family has no history of birth defects or genetic abnormalities/syndromes. There is nothing I can do about the inversion; it is present in every single cell of my body on one of the two chromosomes in set 7. So I have one good chromosome on set 7, and one "bad".
SO what does this mean for us and procreation?? We were offered two options
(1) Continue to try on our own for as long as it takes, fully knowing that there is potential for more miscarriages, since roughly half my eggs will have the "bad" chromosome 7.
(2)Try IVF coupled with PGD in order to test the embryos before implantation to determine which ones have the appropriate amount of genetic material (no more, no less).
I was quoted a miscarriage rates of 50-70% for my issue, where the normal population has approx 10% chance of m/c. More recently, the genetic counselor from the firm performing the PGD has told me I have approximately 5-10% of having a normal embryo.
After some deliberation, and in the end based on statistics alone, we opted for IVF with PGD. We could not even think about going through the emotional strain of more miscarriages and potentially more D&E procedures. Not to mention, we aren't getting any younger. Our big issue with this is the financial one, but we had some savings so that we were able to pay in full for our first cycle of IVF and PGD, as only my medications are covered by insurance (but are capped anyway so there was still an out of pocket expense).
IVF #1 (April/May 2011)- FAIL- 15 embryos, 2 with "normal" chromosome complement, 1 Day 5 hatching blastocyst transferred, lost one
IVF #2 (June/July 2011) - 23 embryos, 3 "normal" and frozen for a future FET cycle because window was missed for transfer
FET #1 ("natural cycle" i.e. NO MEDICATION)- began in August 2011 and was cancelled after 3 weeks due to poor ovarian response
FET #2- medicated cycle began September 2011 and culminated with the transfer of two of the IVF #2 thawed Day 5 blastocysts October 2011; one blast implanted- healthy baby boy born July 1, 2012- baby boy does NOT carry inversion at all on chromosome set 7
Spontaneous natural pregnancy #2- conception June 2013- due date March 2014; confirmed via CVS testing at 12 weeks that baby boy #2 does NOT carry inversion on chromosome set 7 or any other abnormality
