We heard back from our Genetic Counselor, my karyotyping (genetic testing on blood) was "chromosomally normal". I was shocked by the results and I'm so thankful at the same time for future pregnancies. Ryan's results have not been completed yet, but his family history is unremarkable. So we are not expecting to see anything come out of his.
With all that said, the counselor spoke with the lab MD about our FISH results (2 and a half dots vs the normal 3). The MD has only seen results like this one other time in his career (of course, Ryan and I would fall into the "unusual" category), the result was a spontaneous translocation.
A quick description of a translocation is, when 2 chromosomes split and switch positions. Many people have translocations (this is what they were thinking I had) but the total number of chromosomes still totals 46 and the person is "normal", but their arrangement of chromosomes is not normal. Our baby has ended up with 47 chromosomes, the extra chromosome at the 18th position.
We probably will not hear anything until Wednesday, when the baby and Ryan's results will be back. Again, the counselor forgot to find out the baby's gender. So, I'm not able to share that with all of you at this time.
Today is going to be near record high temperatures in Denver (70 degrees). We are heading to gymnastics this morning and off to the zoo later today. Tomorrow we are expecting snow, so we really want to take advantage of the gorgeous weather today.
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