1 option
Case for offering all women amniocentesis and chromosomal microarray analysis / Arthur L. Beaudet.
- Format:
- Video
- Author/Creator:
- Beaudet, Arthur L., author.
- Language:
- English
- Subjects (All):
- Prenatal diagnosis.
- Physical Description:
- 1 online resource (1 streaming video file (34 min., 50 sec.)) : sound, color
- Place of Publication:
- London, England : Henry Stewart Talks, 2009.
- System Details:
- video file
- Contents:
- 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.
- Notes:
- Description based on publisher supplied metadata and other sources.
- Retrieved April 11, 2024, from https://hstalks.com/bs/1404/.
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