ArticleMolecular cytogenetics2011
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases.
Article in Molecular cytogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Prenatal diagnosis · 2013Pooled it
- Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.Prenatal diagnosis · 2012Trial
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- Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.Molecular cytogenetics · 2025Article
- Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.Frontiers in molecular biosciences · 2025Article
- Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.Journal of medical genetics · 2021Article
- Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory.Acta obstetricia et gynecologica Scandinavica · 2020Article
- Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.Molecular cytogenetics · 2018Article
- "Classical cytogenetics" is not equal to "banding cytogenetics".Molecular cytogenetics · 2017Article
- Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.Journal of Korean medical science · 2016Article
- Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.Molecular cytogenetics · 2016Article
- 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
- Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.Journal of visualized experiments : JoVE · 2015Article
- Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis.Turkish journal of obstetrics and gynecology · 2014Review
- Perspective on the technical challenges involved in the implementation of array-CGH in prenatal diagnostic testing.Molecular biotechnology · 2014Article
- Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection.Human genetics · 2014Article
- A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics.Molecular cytogenetics · 2014Article
- Article
- Multicolor banding remains an important adjunct to array CGH and conventional karyotyping.Molecular cytogenetics · 2013Article
- Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.Yonsei medical journal · 2013Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundArray comparative genomic hybridization (CGH) is currently the most powerful method for detecting chromosomal alterations in pre and postnatal clinical cases. In this study, we developed a BAC based array CGH analysis platform for detecting whole genome DNA copy number changes including specific micro deletion and duplication chromosomal disorders. Additionally, we report our experience with the clinical implementation of our array CGH analysis platform. Array CGH was performed on 5080 pre and postnatal clinical samples from patients referred with a variety of clinical phenotypes.
resultsA total of 4073 prenatal cases (4033 amniotic fluid and 40 chorionic villi specimens) and 1007 postnatal cases (407 peripheral blood and 600 cord blood) were studied with complete concordance between array CGH, karyotype and fluorescence in situ hybridization results. Among 75 positive prenatal cases with DNA copy number variations, 60 had an aneuploidy, seven had a deletion, and eight had a duplication. Among 39 positive postnatal cases samples, five had an aneuploidy, 23 had a deletion, and 11 had a duplication.
conclusionsThis study demonstrates the utility of using our newly developed whole-genome array CGH as first-tier test in 5080 pre and postnatal cases. Array CGH has increased the ability to detect segmental deletion and duplication in patients with variable clinical features and is becoming a more powerful tool in pre and postnatal diagnostics.
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