ReviewBioMed research international2013
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Review in BioMed research international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.Investigative ophthalmology & visual science · 2025Article
- Review
- Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype.Molecular cytogenetics · 2022Article
- Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family.Molecular cytogenetics · 2022Article
- Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype.Molecular cytogenetics · 2022Article
- Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions.Scientific reports · 2021Article
- Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization.Porto biomedical journal · 2018Article
- A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.Scientific reports · 2017Article
- Human molecular cytogenetics: From cells to nucleotides.Genetics and molecular biology · 2014Review
- Article
- Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance.Birth defects research. Part A, Clinical and molecular teratology · 2013Article
- Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype.Einstein (Sao Paulo, Brazil)Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tier test in prenatal diagnosis. In this study, array CGH was applied in 64 prenatal samples with whole genome oligonucleotide arrays (BlueGnome, Ltd.) on DNA extracted from chorionic villi, amniotic fluid, foetal blood, and skin samples. Results were confirmed with Fluorescence In Situ Hybridization or Real-Time PCR. Fifty-three cases had normal karyotype and abnormal ultrasound findings, and seven samples had balanced rearrangements, five of which also had ultrasound findings. The value of array CGH in the characterization of previously known aberrations in five samples is also presented. Seventeen out of 64 samples carried copy number alterations giving a detection rate of 26.5%. Ten of these represent benign or variables of unknown significance, giving a diagnostic capacity of the method to be 10.9%. If karyotype is performed the additional diagnostic capacity of the method is 5.1% (3/59). This study indicates the ability of array CGH to identify chromosomal abnormalities which cannot be detected during routine prenatal cytogenetic analysis, therefore increasing the overall detection rate. In addition a thorough review of the literature is presented.
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