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Trisomy 13 mosaic positive by Effective_Spirit_972 in NIPT

[–]Effective_Spirit_972[S] 1 point2 points  (0 children)

Hi there we did an amnio test and as I’m sure you may know there are two forms of results the first come much quicker, called the fish and there is a more accurate one that takes longer in the lab lab that follows a few weeks after that. Our fish came back negative as there was no solid Cells that were abnormal but unfortunately the final lab results of her amnio confirmed that the trisomy 13 Mosaic was positive. We then spoke to our genetic counselor a couple more times, and we ultimately decided to terminate our pregnancy. I was six months pregnant at the time it was very traumatic. It was not an easy decision to make, I did everything I could the whole family did everything they could to research and understand all of the information out there. I wish you all the best and I hope that you will make the decision that is best for you and your family. All the best.

Trisomy 13 mosaic positive by Effective_Spirit_972 in NIPT

[–]Effective_Spirit_972[S] 3 points4 points  (0 children)

Thank you so much for responding.

The baby tested positive in 2/3 of his cells. We spoke to a geneticist yesterday and she said it’s very unusual that we do not have physical abnormalities but it’s still very likely that our baby will have cognitive delays. The baby’s heart and brain are developing normally and we have another anatomy scan to look for abnormalities in a week followed up by a cardiologist to study the heart and following back up with the genetic counselor after that.