Tuesday, October 5, 2010

The Chromosomal Results

Today Karen (our geneticist) called. I actually didn't think I was going to be able to listen to the message or call her back, but I continue to amaze myself with the things I'm able to do.

Cole Jayden did not have any chromosomal abnormalities, which rules out Down Syndrome (some renal diseases have been found in children with down syndrome), Trisomy 13, and Trisomy 18. This isn't completely shocking to us as Cole looked typical. The doctors had told us before we delivered that generally when babies look typical, they will not have any chromosomal abnormalities and Cole did not have any physical deformities.

In terms of the autopsy, the results are not in yet. We were told it could be another month or two before we find out, because often the results have to be sent for second opinions at Stanford. We were asked some more screening questions (about deafness, hair, and eye color), which according to my research was to screen Cole and our family for Waardenburg syndrome.


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