ArticleJournal of medical genetics2006
Prenatal detection of unbalanced chromosomal rearrangements by array CGH.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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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
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 201 citations in OpenAlex.
- An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies.American journal of medical genetics. Part A · 2014Pooled it
- Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.American journal of obstetrics and gynecology · 2009Trial
- Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Genes · 2023Article
- Nanostructures in non-invasive prenatal genetic screening.Biomedical engineering letters · 2022Review
- Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage.Molecular diagnosis & therapy · 2021Article
- Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.Journal of genetic counseling · 2018Article
- Prenatal and pre-implantation genetic diagnosis.Nature reviews. Genetics · 2016Review
- A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics.Molecular cytogenetics · 2014Article
- Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.European journal of human genetics : EJHG · 2013Article
- An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.PloS one · 2013Article
- Rapid and non invasive prenatal diagnosis.Balkan journal of medical genetics : BJMG · 2012Article
- The high incidence of STR D21S1446 homozygosity in Han and She populations living in South Eastern China.Journal of assisted reproduction and genetics · 2012Article
- Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.Molecular cytogenetics · 2012Article
- Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.European journal of human genetics : EJHG · 2011Article
- Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases.Molecular cytogenetics · 2011Article
- The future of prenatal cytogenetic diagnostics: a personal perspective.Prenatal diagnosis · 2010Article
- Application of a target array comparative genomic hybridization to prenatal diagnosis.BMC medical genetics · 2010Article
- Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Genomics insights · 2010Article
- Genomic disorders ten years on.Genome medicine · 2009Article
- Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.The Journal of molecular diagnostics : JMD · 2009Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundKaryotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation remains the requirement for cell culture, resulting in a delay of as much as 14 days to obtaining test results. Fluorescent in situ hybridisation (FISH) and quantitative fluorescent PCR (QF-PCR) rapidly detect common chromosomal abnormalities but do not provide a genome wide screen for unexpected imbalances. Array comparative genomic hybridisation (CGH) has the potential to combine the speed of DNA analysis with a large capacity to scan for genomic abnormalities. We have developed a genomic microarray of approximately 600 large insert clones designed to detect aneuploidy, known microdeletion syndromes, and large unbalanced chromosomal rearrangements.
methodsThis array was tested alongside an array with an approximate resolution of 1 Mb in a blind study of 30 cultured prenatal and postnatal samples with microscopically confirmed unbalanced rearrangements.
resultsAt 1 Mb resolution, 22/30 rearrangements were identified, whereas 29/30 aberrations were detected using the custom designed array, owing to the inclusion of specifically chosen clones to give increased resolution at genomic loci clinically implicated in known microdeletion syndromes. Both arrays failed to identify a triploid karyotype. Thirty normal control samples produced no false positive results.
conclusionsAnalysis of 30 uncultured prenatal samples showed that array CGH is capable of detecting aneuploidy in DNA isolated from as little as 1 ml of uncultured amniotic fluid; 29/30 samples were correctly diagnosed, the exception being another case of triploidy. These studies demonstrate the potential for array CGH to replace conventional cytogenetics in the great majority of prenatal diagnosis cases.
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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.