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Would you rather...
A. Counsel an expectant couple that their pregnancy will have a rare genetic disease based on 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 targeted carrier screening panel that evaluated only for more common mutations that have been proven 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?
Posted 2 weeks.
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