MultiHub Forum

I'm a genetic counselor working with a family where a child has been diagnosed with a rare, de novo mutation associated with a neurodevelopmental disorder, and the parents are considering having another child. We're discussing the options of prenatal testing versus preimplantation genetic diagnosis, but the statistical nuances of germline mosaicism are difficult to convey. For other professionals in clinical genetics, how do you approach counseling in these complex scenarios where the recurrence risk isn't a simple Mendelian probability? What resources or visual aids have you found most effective for helping families understand concepts like penetrance and variable expressivity when making reproductive decisions?