ArticleJournal of community genetics2015
Variants of unknown significance on chromosomal microarray analysis: parental perspectives.
Article in Journal of community genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Systematic Review: The Psychosocial Impacts of Autism-Related Genetic Testing.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Pooled it
- "The ability to get ahead": Australian parent perspectives on genomics in newborn screening and considerations for potential models of care.European journal of human genetics : EJHG · 2025Article
- Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.Frontiers in genetics · 2024Article
- Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.Open biology · 2023Article
- Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.Genome medicine · 2023Article
- Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.Journal of community genetics · 2021Article
- Hope versus reality: Parent expectations of genomic testing.Patient education and counseling · 2021Article
- Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series.Journal of personalized medicine · 2021Article
- Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.Journal of genetic counseling · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.Journal of genetic counseling · 2020Article
- Patients' views on variants of uncertain significance across indications.Journal of community genetics · 2020Review
- Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.Neurology. Genetics · 2019Article
- Article
- Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing.Prenatal diagnosis · 2018Article
- "Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.European journal of human genetics : EJHG · 2017Article
- Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.PLoS currents · 2017Article
- 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
- Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis.Journal of genetic counseling · 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
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay (DD), intellectual disability (ID), and/or autism spectrum disorder (ASD). Microarray may discover variants of unknown clinical significance (VUS) and been suggested to cause parental stress and anxiety. A retrospective, mixed methods study investigated parental perceptions of chromosomal microarray results that contain VUS. Surveys were sent to parents of children with DD/ID/ASD following a VUS result to seek information regarding parental understanding of the result, perceived value, and perceptions of child vulnerability and parental stress. Parents reported that chromosomal microarray was important for understanding their child's diagnosis and they were satisfied with the information. A majority of parents reported high confidence in their ability to explain a VUS result to others. Of the parents who reported they received support, many reported that the support was from a genetic counselor. Based on these results, VUS results are important to parents of children with DD/ID/ASD and genetic counseling regarding VUS results contributes positively to both parental understanding and support.
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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.