Consequences of imprecision in fetal fraction estimation on performance of cell-free DNA screening for Down syndrome.
Frederik PerssonHoward S CucklePublished in: Prenatal diagnosis (2022)
Most no-calls due to a low reported FF have a true FF above the cut-off. The discriminatory power of a test limits its effective DR and FF precision determines the tradeoff between apparent and effective DR when low FF is used to discard samples. Tests with high discriminatory power do not benefit from current FF measurements.