Balanced rearrangement, Chromosomal microarray, genetic testing, mosaicism, UPDACMG Practice Resourcedoi:10.1038/s41436-018-0040-6Waggoner DarrelWain Karen E.Dubuc Adrian M.Conlin LauraHickey Scott E.Lamb Allen N.Martin Christa LeseMorton Cynthia C.Rasmussen KristenSchuette Jane L.Genet MedGenetics in Medicine Official Journal of the American ...
Chromosomal Microarray Analysis (CMA) testing for chromosomal and severe genetic conditions not detected by traditional chromosome analysis
Microarray testing results fall into three main categories: (i) negative (no clinically significant alteration), (ii) pathogenic (a genomic alteration known to result in a genetic condition), and (iii) "variant of unknown significance" (VUS) (a deletion/ duplication that has not previously ...
Chromosomal microarray (CMA) is currently the first-tier genetic test for patients with idiopathic neuropsychiatric diseases in many countries. Its improved diagnostic yield over karyotyping and other molecular testing facilitates the identification of the underlying causes of neuropsychiatric diseases. In thi...
Chromosomal microarray analysis (CMA), also known as array CGH,is a diagnostic test that can detect clinically significantmajor chromosomal imbalances(aneuploidies)and submicroscopic (microdeletion / microduplication) copy numbervariationsthroughout the genome. ...
testing techniques for birth defects include ultrasound exam,karyotyping analysis and FISH diagnosis.However,these technologies have significant limitations and reduce the incidence of birth defects less than 5%.The current advanced technology for prenatal genetic testing is chromosome microarray analysis(CMA)...
Conventional karyotype (CK) with/without Fluorescence In-Situ Hybridization (FISH) has been the primary modality in identifying possible genetic etiologies relating to CHDs [9]. However, a considerable interest has been given to use chromosomal microarray analysis (CMA) testing in the prenatal workup...
Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos 2011, Fertility and Sterility Show abstract The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender 2011, Fertility and Sterility Show abstract Preimplantation genetic screenin...
CMA testing by addressing reasons for pursuing prenatal testing and participat- ing in the microarray study; understanding of microarray test- ing; receiving results; decision making after receiving results; emotional response to results; and needs during the process of microarray testing and afterward...
Chromosomal microarray analysis Cases referred for genetic evaluation of ASD, DD, ID Clinical assessment in genetics clinic -FMR1 test -Targeted gene test -Targeted CNV test Counselling Chromosome microarray (CMA) 1 CNV CNV positive >1 CNV Benign CNV filtered out by clinical labs Articles Pathogenic...