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AMPLIFY™ Technology Enhances Prenatal Screening for 22q11.2 Microdeletion

Myriad Genetics

Typically, the way to diagnose 22q prenatally is through chorionic villus sampling or an amniocentesis. Less invasive options like prenatal cell-free DNA (cfDNA) screens can also be used to help identify the microdeletion. Thus, the value of using cfDNA screens for 22q has been marginal. Mayo Clinic. We observed 100% PPV.