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Navigable Slide Index

1. Introduction
2. Disclosure
3. Array versus chromosomal analysis
4. CMA methodology
5. Analysis of trisomy 21 (Down syndrome disorder)
6. Targeted patient population
7. CMA V.6+ deletion - duplication syndromes
8. Detection of clinically significant abnormalities
9. Copy number variation (CNV)
10. Examples of clone plots
11. Copy number variation in parent and fetus
12. Disease analysis example
13. The disease as shown by array analysis
14. Deletions: Array and chromosomal analysis
15. Detection of exon deletions
16. What will CMA detect that karyotype will not?
17. What will karyotype detect that CMA will not?
18. What about prenatal use of arrays?
19. Different opinions (1)
20. Different opinions (2)
21. Search and destroy concern and eugenics
22. Autism and MR
23. Tests which should be abandoned
24. Corollary of these positions
25. Different opinions (3)
26. Different opinions (4)
27. What does ACOG recommend?
28. What might ACOG recommend?
29. Prenatal genome testing sparks debate
30. Misinformation in the journals
31. Important goals
32. Chances of serious abnormality
33. Baylor prenatal CMA clinical protocol
34. Experience with array-CGH in prenatal diagnosis
35. DNA yield is affected by gestational age
36. Recent experience
37. Detected copy number changes
38. Presumably benign finding example
39. Findings of uncertain significance (1)
40. 15q26.3 deletion
41. Findings of uncertain significance (2)
42. Recent case
43. Interpreting uncertain array data
44. Advantages of amnio and array analysis
45. Worst case hypothetical 1% chance
46. Two kinds of uncertainty
47. Families likely to accept
48. Families likely to decline
49. Nonpaternity concerns
50. The NIH study
51. Study design - patients
52. Concluding remarks
53. Acknowledgments
54. 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:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Therapeutic Areas:

• Gynaecology & Obstetrics

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 27, 2024, from https://doi.org/10.69645/OFMP3569.
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Publication History

• Published on August 30, 2009
• Archived on February 25, 2021

Financial Disclosures

• Prof. Arthur Beaudet has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.