Would you rather?
A. Counsel an expectant couple that their pregnancy will have a rare genetic disease based results discovered through an expanded carrier screen utilizing sequencing, only later to learn, after the couple has elected a life altering reproductive decision, that in fact the once called pathogenic mutation is actually a benign variant
B. Counsel an expectant couple about a more limited carrier screening panel, that evaluates only for mutations that have been proven to cause disease, that their chance to have an affected pregnancy is small, and “miss” a prenatal diagnosis, learning only after the birth of an affected baby that the mutations could have been identified through an expanded carrier panel using sequencing
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