ArticleInternational journal of molecular sciences2019
Combination of Fetal Fraction Estimators Based on Fragment Lengths and Fragment Counts in Non-Invasive Prenatal Testing.
Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed.
- Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing.PloS one · 2025Article
- Cell-free placental DNA: What do we really know?PLoS genetics · 2024Review
- Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review.Frontiers in pediatrics · 2022Review
- GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies.Computational and structural biotechnology journal · 2022Article
- Calculation of Fetal Fraction for Non-Invasive Prenatal Testing.Biotech (Basel (Switzerland)) · 2021Review
- Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes.International journal of molecular sciences · 2020Review
- Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.Acta bio-medica : Atenei Parmensis · 2020Article
- Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings.Diagnostics (Basel, Switzerland) · 2020Article
- Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.PloS one · 2020Article
- Cell-Free Nucleic Acids.International journal of molecular sciences · 2019Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
The reliability of non-invasive prenatal testing is highly dependent on accurate estimation of fetal fraction. Several methods have been proposed up to date, utilizing different attributes of analyzed genomic material, for example length and genomic location of sequenced DNA fragments. These two sources of information are relatively unrelated, but so far, there have been no published attempts to combine them to get an improved predictor. We collected 2454 single euploid male fetus samples from women undergoing NIPT testing. Fetal fractions were calculated using several proposed predictors and the state-of-the-art SeqFF method. Predictions were compared with the reference Y-based method. We demonstrate that prediction based on length of sequenced DNA fragments may achieve nearly the same precision as the state-of-the-art methods based on their genomic locations. We also show that combination of several sample attributes leads to a predictor that has superior prediction accuracy over any single approach. Finally, appropriate weighting of samples in the training process may achieve higher accuracy for samples with low fetal fraction and so allow more reliability for subsequent testing for genomic aberrations. We propose several improvements in fetal fraction estimation with a special focus on the samples most prone to wrong conclusion.
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Registered trials
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