Sugar and Spice and an T20(M?)
I got the karyotyping results back today.
My husband and I are both chromosomally normal.
My doctor told me in order to explain the embryonic results that came back, she had to tell me the gender. It was female.
They were able to culture 20 embryonic cells. 19 came back as “normal female” cells; 1 came back as “abnormal female” with trisomy-20 (three copies of the 20th chromosome instead of two). This could be one of two things:
1) indicative of a complete trisomy-20 in the embryo where the other 19 cells (normal female) were actually my cells
2) a “confined placental mosaicism” (CPM) where the 19 cells of the embryo were normal and the one was just an “oops” (my term, not hers) that was confined to the placenta. 90% of fetuses with CPM are born perfectly healthy (this assumes no maternal contamination happened when she collected the sample during the D&C)
While either one is possible, odds are that the embryo was abnormal because there is often a high rate of maternal cellular contamination when taking the sample from a D&C. If it came back as “normal male” in 19/20 cells, they could establish it as a mosaicism; “normal female” does not really mean much. So, it was probably a genetic error, but since we do not know for sure, we will still treat as if it could be an autoimmune problem.
What I am not going to do: use the words “daughter” or “baby girl.” This is exactly why I did not want to know the gender. In order to preserve my sanity, I must only think of it simply as an “embyonic female” or “proto-baby female.”