ArticlePrenatal diagnosis2019
Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
Article in Prenatal diagnosis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03087357 (The VALUE Study - Women & Infants as the Coordinating Center), which is not on this map. Cited by 15 papers.
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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.
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.
The VALUE Study - Women & Infants as the Coordinating Center
Who cites it
15 citing papers in PubMed.
- A Fetal Fraction Optimized 106-Plex Digital PCR Assay for Non-Invasive Prenatal Testing of Fetal Trisomy.Diagnostics (Basel, Switzerland) · 2026Article
- Balancing How Much We Want to Know with What We Are Willing to Pay: A Comparative Cost Analysis of Prenatal Cytogenetic Testing and Screening Strategies.Fetal diagnosis and therapy · 2026Article
- Article
- Implementation of circulating cell-free DNA screening for fetal aneuploidies.Advances in laboratory medicine · 2025Article
- Article
- Cell-free DNA-based prenatal screening via rolling circle amplification: Identifying and resolving analytic issues.Journal of medical screening · 2023Article
- Non-Invasive prenatal testing with rolling circle amplification: Real-world clinical experience in a non-molecular laboratory.Journal of clinical laboratory analysis · 2023Article
- Next-Generation Digital Polymerase Chain Reaction: High-Dynamic-Range Single-Molecule DNA Counting via Ultrapartitioning.Analytical chemistry · 2022Article
- A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.Journal of clinical medicine · 2022Article
- The History and Future of Basic and Translational Cell-Free DNA Research at a Glance.Diagnostics (Basel, Switzerland) · 2022Review
- Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study).Diagnostics (Basel, Switzerland) · 2021Article
- Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.Current issues in molecular biology · 2021Article
- Evaluation of repeat testing of a non-sequencing based NIPT test on a Finnish general-risk population.Acta obstetricia et gynecologica Scandinavica · 2021Article
- Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies.BMC pregnancy and childbirth · 2020Article
- Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.Prenatal diagnosis · 2019Article
Corrections and comments
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Authors and funding
34 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate clinical performance of a new automated cell-free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.
methodMaternal plasma samples from 1200 singleton pregnancies were analyzed with a new non-sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.
resultsThe samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.
conclusionThe new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population-based screening.
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