Applications of Array Comparative Genomic Hybridization in Obstetrics

Fruhman, Gary; Veyver, Ignatia B. Van den

doi:10.1016/j.ogc.2010.02.001

Cited by 28 publications

(23 citation statements)

References 46 publications

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“…48). Depending on design and probe density, array CGH can offer resolution from whole chromosomes to deletions and duplications of a few kilobases in size 49 . Array CGH imparts improved sensitivity (TABLE 2) of rearrangement detection (with the important exception of balanced inversions and translocations) and the ability to detect readily uniparental disomy (UPD), which is not detectable through chromosomal CGH.…”

Section: Post-millennium Genetic Technologiesmentioning

confidence: 99%

Molecular genetic testing and the future of clinical genomics

2013

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Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.

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Section: Post-millennium Genetic Technologiesmentioning

confidence: 99%

Molecular genetic testing and the future of clinical genomics

2013

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“…It can query the entire human genome for copy number changes such as aneuploidy, deletions, duplications, and unbalanced translocations. Unlike traditional cytogenetics that requires dividing cells, aCGH does not (25)(26)(27)(28)(29)(30). Conventional karyotype remains the principal cytogenetic tool for prenatal diagnosis, but the indications for aCGH are as follows:…”

Section: Cgh and Other Genetic Tests: Present And Futurementioning

confidence: 99%

Prenatal diagnosis and screening for aneuploidy

Lewis¹,

Jenkins²

2012

Obstetric Evidence Based Guidelines

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“…The current gold standard for prenatal diagnosis for fetal aneuploidy is a full karyotype obtained from the culture of amniocytes or chorionic villus cells, which are obtained by invasive procedures such as amniocentesis or chorionic villus sampling (CVS) [1-3]. It is unclear, however, how long this practice will remain standard operating procedure because the classical karyotype yields a limited amount of information by today's standards, and because the lengthy culture period of typically 10 to 14 days is no longer acceptable in our high-speed society [1,2].…”

Section: Analysis Of Fetal Materials Gained By Invasive Proceduresmentioning

confidence: 99%

“…It is unclear, however, how long this practice will remain standard operating procedure because the classical karyotype yields a limited amount of information by today's standards, and because the lengthy culture period of typically 10 to 14 days is no longer acceptable in our high-speed society [1,2]. …”

Section: Analysis Of Fetal Materials Gained By Invasive Proceduresmentioning

confidence: 99%

Prenatal diagnosis of fetal aneuploidies: post-genomic developments

2010

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Prenatal diagnosis of fetal aneuploidies and chromosomal anomalies is likely to undergo a profound change in the near future. On the one hand this is mediated by new technical developments, such as chromosomal microarrays, which allow a much more precise delineation of minute sub-microscopic chromosomal aberrancies than the classical G-band karyotype. This will be of particular interest when investigating pregnancies at risk of unexplained development delay, intellectual disability or certain forms of autism. On the other hand, great strides have been made in the non-invasive determination of fetal genetic traits, largely through the analysis of cell-free fetal nucleic acids. It is hoped that, with the assistance of cutting-edge tools such as digital PCR or next generation sequencing, the long elusive goal of non-invasive prenatal diagnosis for fetal aneuploidies can finally be attained.

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Applications of Array Comparative Genomic Hybridization in Obstetrics

Cited by 28 publications

References 46 publications

Molecular genetic testing and the future of clinical genomics

Molecular genetic testing and the future of clinical genomics

Prenatal diagnosis and screening for aneuploidy

Prenatal diagnosis of fetal aneuploidies: post-genomic developments

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