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Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience
The Journal of Obstetrics and Gynecology of India, 2021Karyotyping has been the gold standard for prenatal chromosome analysis. The resolution should be higher by chromosome microarray analysis (CMA). The challenge lies in recognizing benign and pathogenic or clinically significant copy number variations (pCNV) and variations of unknown significance (VOUS).
Meena, Bajaj Lall +9 more
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Chromosomal Microarray Analysis and Prenatal Diagnosis
Obstetrical & Gynecological Survey, 2014Chromosomal 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 +3 more
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Chromosomal microarray analysis in ocular developmental anomalies
Expert Review of Molecular Diagnostics, 2012Ocular developmental anomalies (ODAs) are structural defects of the eye with vari-ous severities, caused by the disruption of the complex process of ocular morpho-genesis. Although the reported prevalence at birth varies greatly, congenital eye mal-formations are rare; they are estimated to occur in four to six per 10,000 neonates in European ...
Andrée, Delahaye +2 more
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Current Protocols in Human Genetics, 2012
AbstractChorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus
Amy, Breman, Ankita, Patel
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AbstractChorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus
Amy, Breman, Ankita, Patel
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Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
American Journal of Obstetrics and Gynecology, 2023Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the etiologic diagnosis of infants and children with suspected genetic diseases. However, the application and evaluation of whole genome sequencing in prenatal diagnosis remain limited.This
Ping Hu +11 more
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The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis
Obstetrics and Gynecology Clinics of North America, 2018Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray.
Melissa, Stosic +2 more
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Chromosomal microarray analysis of patients with Duane retraction syndrome
International Ophthalmology, 2018Duane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various chromosomal copy number variations (CNVs) have also been reported. The objective of our study was to characterize the CNVs, including gains and losses detected by high-resolution chromosomal ...
Leyla Niyaz +7 more
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Ascertainment of Recurrent Translocations by Chromosomal Microarray Analysis
Cancer Genetics, 2012s 421 Detection and characterization of recurrent translocations play an important role in the diagnosis and treatment of hematological disorders. Chromosomal microarray analysis (CMA) is a powerful tool to detect copy number changes in hematological disorders.
Guangyu Gu +5 more
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Chromosomal microarray analysis of infertile men with azoospermia factor microdeletions
Gene, 2020Azoospermia factors, located in the long arm of the Y chromosome, are critical for spermatogenesis, the microdeletions of AZF are considered to be associated with male infertility. In addition to complete deletion, several AZFc partial deletions were also detected in infertile men with wide phenotypic heterogeneity.
Yan, Zhu +4 more
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Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome
Cytogenetic and Genome Research, 2019Williams-Beuren Syndrome (WBS; OMIM #194050) is a rare neurodevelopmental disorder that results from a deletion at 7q11.23 spanning 25-27 genes. We performed chromosomal microarray analysis (CMA) in 9 Taiwanese patients with WBS to confirm the diagnosis. These samples had already been examined by FISH and diagnosed as WBS.
Haung-Tsung, Kuo +4 more
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