ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Genome-wide cell-free DNA screening: a focus on copy-number variants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.Annals of medicine · 2026Article
- NICE: A Two-Step Non-Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration.Diagnostics (Basel, Switzerland) · 2026Article
- Copy Number Variant Detection by NIPT: Biological Constraints and the Limits of Prenatal Genomic Inference.Genes · 2026Review
- Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential.Prenatal diagnosis · 2026Article
- Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.Frontiers in genetics · 2026Article
- 5-hydroxymethylcytosine analysis reveals stable epigenomic changes in tumor tissue that enable cancer detection in cell-free DNA.Communications biology · 2025Article
- Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies.Genes · 2025Article
- Article
- Article
- Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.Molecular cytogenetics · 2024Article
- Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.Nature medicine · 2024Observational
- The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.Frontiers in genetics · 2024Article
- Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.Molecular cytogenetics · 2023Article
- Article
- Positive cfDNA screening results for 22q11.2 deletion syndrome-Clinical and laboratory considerations.Frontiers in genetics · 2023Article
- Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.Journal of clinical medicine · 2022Review
- Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.Molecular cytogenetics · 2022Article
- Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis.Frontiers in genetics · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeOf 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening.
methodsCases positive for one or more subchromosomal CNV from genome-wide cfDNA screening and diagnostic outcomes were compiled. Diagnostic testing trends were analyzed, positive predictive values (PPVs) were calculated, and the type of chromosomal abnormalities ultimately confirmed by diagnostic testing were described.
resultsCNVs were identified in 0.56% of screened specimens. Of the 490 cases screen-positive for one or more CNV, diagnostic outcomes were available for 244 cases (50%). The overall PPV among the cases with diagnostic outcomes was 74.2% (95% CI: 68.1-79.5%) and 71.8% (95% CI: 65.5-77.4%) for "fetal-only" events. Overall, isolated CNVs showed a lower PPV of 61.0% (95% CI: 52.5-68.8%) compared to complex CNVs at 93.9% (95% CI: 86.6-97.5%). Isolated deletions/duplications and unbalanced structural rearrangements were the most common diagnostic outcomes when isolated and complex CNVs were identified by cfDNA screening, respectively.
conclusionGenome-wide cfDNA screening identifies chromosomal abnormalities beyond the scope of traditional cfDNA screening, and the overall PPV associated with subchromosomal CNVs in cases with diagnostic outcomes was >70%.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.