ArticlePrenatal diagnosis2022
Consequences of imprecision in fetal fraction estimation on performance of cell-free DNA screening for Down syndrome.
Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 9 citations in OpenAlex.
- Consequences of imprecision in fetal fraction estimation on performance of cell-free DNA screening for Down syndrome.Prenatal diagnosis · 2022Article
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is a significant variability in reported fetal fraction (FF), a common cause for no-calls in cell-free (cf)DNA based non-invasive prenatal screening. We examine the effect of imprecision in FF measurement on the performance of cfDNA screening for Down syndrome, when low FF samples are classified as no-calls.
methodsA model for the reported FF was constructed from the FF measurement precision and the underlying true FF. The model was used to predict singleton Down syndrome detection rates (DRs) for various FF cut-offs and underlying discriminatory powers of the test.
resultsIncreasing the FF cut-off led to slightly increased apparent DR, when no-calls are excluded, and an associated larger decrease in effective DR, when no-calls are included. These effects were smaller for tests with higher discriminatory power and larger as maternal weight increased.
conclusionsMost 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.
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