High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification.
Carly HammerSummer PiersonAshley AcevedoJames GoldbergThomas WestoverDevika ChawlaBrent MabeyDale MuzzeyKatherine Johansen TaberPublished in: Prenatal diagnosis (2024)
22q11.2 microdeletion screening that incorporates FF amplification demonstrated high PPV across both general and high-risk population cohorts.
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