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The use of chromosomal microarray for prenatal diagnosis [PDF]

American Journal of Obstetrics and Gynecology, 2016
Chromosomal microarray analysis is a high-resolution, whole-genome technique used to identify chromosomal abnormalities, including those detected by conventional cytogenetic techniques, as well as small submicroscopic deletions and duplications referred to as copy number variants.
Mary E Norton, Jeffrey A Kuller
exaly   +3 more sources

Prenatal diagnosis by chromosomal microarray analysis [PDF]

Fertility and Sterility, 2018
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements.
Brynn Levy, Ronald J Wapner
exaly   +3 more sources

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Chromosome Microarray

MCN: The American Journal of Maternal/Child Nursing, 2016
Abstract Over the last half century, knowledge about genetics, genetic testing, and its complexity has flourished. Completion of the Human Genome Project provided a foundation upon which the accuracy of genetics, genomics, and integration of bioinformatics knowledge and testing has grown exponentially. What is lagging, however, are efforts to
openaire   +4 more sources

Placental mosaicism in the era of chromosomal microarrays

European Journal of Medical Genetics, 2020
Placental mosaicism for a subset of a chromosome, a structural chromosomal aberration, is thought to be a very rare finding in chorionic villus samples. Here, we present clinical and laboratory data on five cases with such mosaicism for structural chromosomal aberrations.During a period of 6 months, chromosomal microarray was carried out on DNA ...
Vogel, Ida; id_orcid 0000-0002-1125-0393, Vestergaard, Else Marie; id_orcid 0000-0002-0469-3890, Lildballe, Dorte Launtoft; id_orcid 0000-0003-0223-1673, Christensen, Rikke, Hoseth, Gerd Eva, Petersen, Astrid Christine, Bogaard, Pauline, Sørensen, Anne Nødgaard   +7 more
openaire   +4 more sources

Chromosomal microarray impacts clinical management

Clinical Genetics, 2013
Chromosomal microarray analysis (CMA) is standard of care, first‐tier clinical testing for detection of genomic copy number variation among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied.
E R, Riggs, K E, Wain, D, Riethmaier, B, Smith-Packard, W A, Faucett, N, Hoppman, E C, Thorland, V C, Patel, D T, Miller   +8 more
openaire   +2 more sources

Clinical Utility of Chromosomal Microarray Analysis

Pediatrics, 2012
OBJECTIVE: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.
Jay W, Ellison, J Britt, Ravnan, Jill A, Rosenfeld, S Annie, Morton, Nicholas J, Neill, Marc S, Williams, Jodi, Lewis, Beth S, Torchia, Cathryn, Walker, Ryan N, Traylor, Kimberly, Moles, Elizabeth, Miller, Jennifer, Lantz, Caitlin, Valentin, Sara L, Minier, Kimberly, Leiser, Berkley R, Powell, Timothy M, Wilks, Lisa G, Shaffer   +18 more
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Chromosomal Microarray Analysis and Prenatal Diagnosis

Obstetrical & Gynecological Survey, 2014
Chromosomal microarray analysis (CMA) assesses chromosomal copy number alterations and affords higher resolution when compared with standard karyotype. This review provides the obstetric provider with an update on the technology, use, and controversies concerning CMA utilization in prenatal diagnosis.
Jamie O, Lo, Brian L, Shaffer, Cori D, Feist, Aaron B, Caughey   +3 more
openaire   +2 more sources

Chromosome microarray in Australia: A guide for paediatricians

Journal of Paediatrics and Child Health, 2012
AbstractChromosomal microarray or molecular karyotype has become the first‐line genetic investigation for children with intellectual disability, autistic spectrum disorder or multiple congenital anomalies. Chromosomal microarray increases the detection rate of pathogenic chromosome imbalances including submicroscopic deletions or duplications in ...
Elizabeth E, Palmer, Greg B, Peters, David, Mowat   +2 more
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Application of Chromosomal Microarray

2015
Recognition of cytogenetic abnormalities in solid tumors is important to aid in decisions regarding the diagnosis, prognosis, and treatment of patients. Data obtained from DNA copy number microarray methodologies is allowing for heretofore unprecedented accuracy in identifying chromosomal anomalies.
Colleen Jackson-Cook, Shivani Ponnala
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Investigating chromosome organization with genomic microarrays

Chromosome Research, 2005
DNA microarrays are increasingly being used to investigate the functional role of chromatin. These studies are enhanced by the development of high-resolution arrays covering either the whole genome or specific regions of selected chromosomes with large insert clones, PCR products or oligonucleotides of around 100 bp or less.
Woodfine, K, Carter, N P, Dunham, I, Fiegler, H   +3 more
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