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.”

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July 30, 2007. Miscarriage #2.

5 Comments

  1. Niobe replied:

    Okay. This will probably show that I don’t understand the issue. But, if they can’t tell if the cells are maternal or not, why couldn’t you be the one with mosaicism, rather than the embryo?

    It probably makes it that much more difficult that they can’t give you a simple, clear answer and that there are still so many ifs and maybes.

  2. missedconceptions replied:

    Niobe,

    They also karyotyped my husband and I to determine if we carried any genetic abnormalities and our results indicated that we did not. Any abnormality, therefore, was embryonic.

    Basically, any result except the one we got would have yielded answers: normal male, abnormal male, and abnormal female would have all conclusively been embryoinc tissue. “Normal female” with a genetically normal mother doesn’t indicate very much, as there is a strong possibility of my blood contaminating the sample during the D&C and giving a false reading.

    The one abnormal cell with the trisomy is not mine, but we will never know the extent of the problem as they can’t determine where the cell came from in the embryo.

    I am now a permanent resident of the land of “ifs” and “maybes” and, quite frankly, I don’t like it here.

    MC

  3. katie replied:

    Thanks for that clear explanation – we have our genetics results from the pregnancy that failed in May back next Monday, and I have a much clearer idea of what to expect now (we are both genetically normal).

    The only thing I’m wondering now is how many cells they grow in our testing. I have this really strong feeling it was male, somehow, so if any cells are male we will at least have a clearer answer.

  4. Kath replied:

    I’m so sorry the answer you were seeking was not in the offing — I felt very similar when my last embryonic karyotype was pronounced “normal female” but they were not sure it wasn’t my tissue they tested by mistake. It’s so frustrating, and knowing the sex really doesn’t help at all. As for the next steps, it’s a good thing that you are covering automimmune issues, just in case.

    It’s good news about your normal karyotypes. If it was a complete trisomy in the embryo, chances are very good that the next one will be normal. I do hope so very much.

  5. Wendy replied:

    Well, I am glad that you are getting answers, but sad that you are going through this. I know that working with Dr. SBS will get you pregnant with a viable pregnancy that you will carry to term. Then we will all be at your house, playing with your baby and Artsweet, Phili and Pepito will all have to come and visit! You know you can call me if you need to right? Anytime? Just making sure. And if you need someone to go with you to see Dr. SBS, I am willing if DH can’t.
    Wendy

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