Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2016
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability.
Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.Italian journal of pediatrics · 2025Article
- Allergen Microarrays and New Physical Approaches to More Sensitive and Specific Detection of Allergen-Specific Antibodies.Biosensors · 2024Review
- Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Diagnostics (Basel, Switzerland) · 2022Article
- Yield of comparative genomic hybridization microarray in pediatric neurology practice.Neurology. Genetics · 2019Article
- Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.Scientific reports · 2019Article
- Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.Molecular diagnosis & therapy · 2018Article
- Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Journal of pediatric genetics · 2017Review
- Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.International journal of molecular sciences · 2016Article
- Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.BioMed research international · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe prevalence of developmental disabilities in the United States is reported to be 13.87% across all racial, ethnic, and socioeconomic groups. Microarrays have been recommended as first-tier tests for these patients. This study reports the diagnostic yield and potential actionability of findings using a high-density chromosomal microarray (CMA).
methodsThe diagnostic yield of CytoScan Dx Assay in 960 patients was assessed with the Riggs criteria of actionability to evaluate predicted clinical utility.
resultsEighty-six percent of the subjects were assessed using a microarray as part of historical routine patient care (RPC). The rate of pathogenic findings was similar between RPC (13.3%) and the CytoScan Dx Assay (13.8%). Among the 138 patients who did not receive microarray as RPC, the diagnostic yield for CytoScan Dx Assay was 23.9% as compared with 14.5%, indicating a 9.4% improvement when using higher-resolution methods. Thirty-five percent of patients with abnormal findings had predicted clinical management implications.
conclusionsThis is the first study to assess the clinical performance of CytoScan Dx Assay. The assay's diagnostic yields are similar to those found in other studies of CMAs. Thirty-five percent of patients with abnormal findings are predicted to have clinical management implications that may improve health outcomes.
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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.