I read the chromosomal analysis.
Partial trisomy of sex chromosome… mosaicism…
Well. What was that going to mean? I needed an answer before I called this baby’s mom. She had been waiting anxiously throughout her pregnancy after the initial testing had showed a probable genetic anomaly. Mosaics are tricky. Some cells are normal. Some are not. The end result can vary. I searched everywhere at my disposal professionally.
So then I turned to Google.
“Likely no developmental delays. No fertility issues. Phenotypically normal appearance.”
I breathed a sigh of relief. I was still sending them to genetics but I wanted to be able to reassure the family if I could. It had been a very emotional pregnancy.
And since then I have been thinking about this more and more.
Now that OB/Gyns are offering, and sometimes pushing, these more advanced genetic tests during pregnancy I wonder what it is going to mean for the babies as they grow up. We would have never known there was an issue genetically for this child 10 years ago. We just would not care. They would have grown up as a “normal” child. Now this kiddo will have “sex chromosome anomaly” hanging around their neck for the rest of their life.
Is more information really better? Just because we can do something… should we?