Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 7 of 7 for “"chromosomal microarray"”.
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Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects
… data of a similar overlapping cohort. Results: Chromosomal microarray analysis was successful for 101 participants (including 89 non-syndromic CHD cases and 12 control cases) and led to the identification of eight CNVs overlapping genes known to be causal for CHD (GATA4, TBX1, FLT4, CRKL, NSD1, …
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Exploring The Potential Yield of Prenatal Testing By Evaluating A Postnatal Population With Structural Abnormalities
… aberration that explained their phenotype. Chromosomal microarray had the highest potential diagnostic yield across the entire cohort and among individuals with multiple structural abnormalities, 26.8% (95% CI: 23.5 - 30.3) and 29.0% (95% CI: 25.3 - 33.3) respectively, which reached …
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Evaluation of Knowledge Regarding Diagnostic Strategies For Genetic Diseases In Select Residents
… on knowledge of the diagnostic applicability of Chromosomal Microarray (CMA) technology in pediatrics because of its recent recommendation by the International Standard Cytogenomic Array (ISCA) Consortium as a first-tier genetic test for individuals with developmental disabilities and/or …
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The Utilization of Prenatal Microarray: A Survey of Current Genetic Counseling Practices and Barriers
<p>Chromosomal microarray (CMA) assesses chromosome copy number variants (CNVs) missed by standard karyotyping. The American College of Obstetricians and Gynecologists (ACOG) recommends CMA for all patients with fetuses with an ultrasound anomaly and suggests that it be made available to all women …
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Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration of Factors That Influence Uptake
… cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient motivations for or against expanded genetic testing options is paramount, therefore this study aimed to ascertain the patient perspective. …
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Delineation of the genetic causes of complex epilepsies in South African pediatric patients
… the panel-negative probands, 78 were tested with chromosomal microarray and 20 proband/parent trios underwent exome sequencing. Statistical comparison of electroclinical features in children with and without candidate variants was performed to identify characteristics most likely predictive of a …
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Pediatric Microarray Testing: The Process of Informing and Consenting
… introduction into the clinical arena in 2004, chromosomal microarray (CMA) testing has rapidly evolved into a powerful diagnostic test and changed pediatric genetic practice. In the past year several investigators have recommended that microarray testing be included in the first-tier of testing …