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1. Copy number variation
- Prof. Steve Scherer
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3. CNVs in human genomes
- Prof. Chris Ponting
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4. Gene copy number variation in human and primate evolution
- Prof. James Sikela
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6. CNVs and clinical diagnosis
- Dr. Brynn Levy
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7. Quantitative CNV testing in molecular diagnostics
- Prof. Dimitri J. Stavropoulos
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8. Mendelian CNV mutations
- Prof. Joris Vermeesch
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9. Copy number variation in neuropsychiatric disorders
- Dr. Christian Marshall
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10. Copy number variation in association studies of human disease
- Dr. Steven McCarroll
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11. Ethical considerations in dealing with CNV information
- Dr. Holly Tabor
- Archived Lectures *These may not cover the latest advances in the field
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15. Population genetics of structural variation
- Dr. Don Conrad
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16. Databases for CNV in control and disease populations
- Dr. Lars Feuk
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17. Copy number variation in mental retardation
- Dr. Joris Veltman
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19. Structural variants and susceptibility to common human disorders
- Prof. Xavier Estivill
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20. Indels, CNVs and the spectrum of human genome variation
- Prof. Samuel Levy
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21. Genome structure and expression
- Prof. Alexandre Reymond
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22. Quantitative CNV testing in molecular diagnostics
- Prof. Martin Somerville
Printable Handouts
Navigable Slide Index
- Introduction
- Disclosure
- Array versus chromosomal analysis
- CMA methodology
- Analysis of trisomy 21 (Down syndrome disorder)
- Targeted patient population
- CMA V.6+ deletion - duplication syndromes
- Detection of clinically significant abnormalities
- Copy number variation (CNV)
- Examples of clone plots
- Copy number variation in parent and fetus
- Disease analysis example
- The disease as shown by array analysis
- Deletions: Array and chromosomal analysis
- Detection of exon deletions
- What will CMA detect that karyotype will not?
- What will karyotype detect that CMA will not?
- What about prenatal use of arrays?
- Different opinions (1)
- Different opinions (2)
- Search and destroy concern and eugenics
- Autism and MR
- Tests which should be abandoned
- Corollary of these positions
- Different opinions (3)
- Different opinions (4)
- What does ACOG recommend?
- What might ACOG recommend?
- Prenatal genome testing sparks debate
- Misinformation in the journals
- Important goals
- Chances of serious abnormality
- Baylor prenatal CMA clinical protocol
- Experience with array-CGH in prenatal diagnosis
- DNA yield is affected by gestational age
- Recent experience
- Detected copy number changes
- Presumably benign finding example
- Findings of uncertain significance (1)
- 15q26.3 deletion
- Findings of uncertain significance (2)
- Recent case
- Interpreting uncertain array data
- Advantages of amnio and array analysis
- Worst case hypothetical 1% chance
- Two kinds of uncertainty
- Families likely to accept
- Families likely to decline
- Nonpaternity concerns
- The NIH study
- Study design - patients
- Concluding remarks
- Acknowledgments
- Contact details
Topics Covered
- Array-based copy number analysis (ABCNA)
- Chromosomal microarray analysis (CMA)
- CMA methodology
- Targeted patient population
- Detection of clinically significant abnormalities
- Copy number variation
- CMA vs. karyotype
- Prenatal use of arrays
- Microarray genetic screening
- Search and destroy concern and eugenics
- Tests which should be abandoned
- Prenatal CMA clinical protocol
- Array-CGH
- Findings of uncertain significance
- Recent cases
- Interpreting uncertain array data
- Advantages of amino and array analysis
- Two kinds of uncertainty
- Non-paternity concerns
- Study design
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Beaudet, A. (2009, August 30). The case for offering all women amniocentesis and chromosomal microarray analysis [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 5, 2024, from https://doi.org/10.69645/OFMP3569.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Arthur Beaudet has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
The case for offering all women amniocentesis and chromosomal microarray analysis
A selection of talks on Methods
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