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Investigation of sub‐chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis

Andrologia, 2022
Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.g., microdeletions and microduplications).
Şenol Çitli, Ahmet Cevdet Ceylan, Fikret Erdemir   +2 more
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The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Obstetrics and Gynecology Clinics of North America, 2018
Chromosomal 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.
Brynn Levy, Ronald J Wapner
exaly   +3 more sources

Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study

American Journal of Obstetrics and Gynecology, 2021
International audienceBackground: Compared with standard karyotype, chromosomal microarray analysis improves the detection of genetic anomalies and is thus recommended in many prenatal indications.
Isabelle Monier, V Houfflin-Debarge, Valerie Goua   +2 more
exaly   +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
openaire   +3 more sources

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing

Annals of Medicine, 2021
Objectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).Methods In this retrospective study, 81 cases of omphalocele were ...
Hongke Ding, Jing Wu
exaly   +2 more sources

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience

The Journal of Obstetrics and Gynecology of India, 2021
Karyotyping 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, Shruti, Agarwal, Preeti, Paliwal, Pushpa, Saviour, Anju, Joshi, Arti, Joshi, Surbhi, Mahajan, Sunita, Bijarnia-Mahay, Ratna, Dua Puri, I C, Verma   +9 more
openaire   +2 more sources

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

Chromosomal microarray analysis in ocular developmental anomalies

Expert Review of Molecular Diagnostics, 2012
Ocular 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, Eva, Pipiras, Brigitte, Benzacken   +2 more
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Preparation of Chorionic Villus Samples for Metaphase Chromosome Analysis and Chromosomal Microarray Analysis

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
openaire   +2 more sources