AMPLIFY™ Technology Enhances Prenatal Screening for 22q11.2 Microdeletion
Myriad Genetics
APRIL 15, 2024
Less invasive options like prenatal cell-free DNA (cfDNA) screens can also be used to help identify the microdeletion. According to a study in Genes (Basel) , cfDNA screens have “a 70–83% detection rate and a 40–50% positive predictive value (PPV) for most associated 22q microdeletions.” We observed 100% PPV.
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