ArticleMolecular cytogenetics2013
Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.
Article in Molecular cytogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 60 citations in OpenAlex.
- Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion.Molecular cytogenetics · 2026Article
- Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics.Childhood kidney diseases · 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
- Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients.Journal of clinical laboratory analysis · 2022Article
- Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review.Human genomics · 2021Review
- Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.Molecular genetics & genomic medicine · 2020Article
- A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.Frontiers in genetics · 2019Article
- Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.Molecular cytogenetics · 2018Article
- CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.Molecular cytogenetics · 2018Article
- Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.Molecular cytogenetics · 2017Article
- What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis.Prenatal diagnosis · 2016Article
- Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.Molecular cytogenetics · 2016Article
- The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.Molecular syndromology · 2015Article
- Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.BMC research notes · 2015Article
- A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.Clinical case reports · 2015Article
- Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.Journal of visualized experiments : JoVE · 2015Article
- Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.Molecular cytogenetics · 2015Article
- Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Molecular cytogenetics · 2015Article
- Absence/presence calling in microarray-based CGH experiments with non-model organisms.Nucleic acids research · 2014Article
- The application of genome-wide SNP genotyping methods in studies on livestock genomes.Journal of applied genetics · 2014Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundArray CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and is now recommended as a first line test in place of G-banded chromosome analysis. At our centre, first line testing by oligonucleotide array CGH for all constitutional referrals for genome imbalance has been in place since June 2008, using a patient vs patient hybridisation strategy to minimise costs.
findingsOut of a total of 13,412 patients tested with array CGH, 8,794 (66%) had array CGH as the first line test. Referral indications for this first line group ranged from neonatal congenital anomalies through to adult neurodisabilities; 25% of these patients had CNVs either in known pathogenic regions or in other regions where imbalances have not been reported in the normal population. Of these CNVs, 46% were deletions or nullisomy, 53% were duplications or triplications, and mosaic imbalances made up the remainder; 87% were <5Mb and would likely not be detected by G-banded chromosome analysis. For cases with completed inheritance studies, 20% of imbalances were de novo.
conclusionsArray CGH is a robust and cost-effective alternative to traditional cytogenetic methodology; it provides a higher diagnostic detection rate than G-banded chromosome analysis, and adds to the sum of information and understanding of the role of genomic imbalance in disease. Use of novel hybridisation strategies can reduce costs, allowing more widespread testing.
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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.