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Printable Handouts
Navigable Slide Index
- Introduction
- Non-invasive prenatal diagnosis
- Discovery of circulating nucleic acids
- Landmark developments
- Tumor-associated microsatellite alterations
- Placenta as a pseudomalignant tissue
- Presence of fetal DNA in maternal plasma
- Demonstration of fetal DNA in maternal plasma
- A rise in fetal DNA as pregnancy progresses
- Fractional concentration
- Rapid fetal DNA clearance
- Clinical applications
- Down syndrome
- Fetal DNA constitute a minority of the DNA
- Targeting fetal-specific nucleic acids
- Using PLAC4 gene to diagnose trisomy 21 fetus
- CpG methylation
- A general approach
- 1000 genome-equivalents/Ml
- Prenatal diagnosis by single molecule counting
- Next-generation DNA sequencing
- DNA genomic sequencing in maternal plasma (1)
- DNA genomic sequencing in maternal plasma (2)
- DNA genomic sequencing in maternal plasma (3)
- Down syndrome detection (1)
- Down syndrome detection (2)
- Fetal sex detection
- The precision for chromosome presentation
- Large scale validation
- Large scale study
- 8-plex sequencing protocol
- 2-plex sequencing protocol
- An example of another study using former method
- Latest generation of sequencers
- Conventional screening in Honk Kong
- Trisomy 13/18 detection (1)
- Trisomy 13/18 detection (2)
- Trisomy 18 (1)
- Trisomy 13 (1)
- Why is Trisomy 13/18 detection a problem?
- GC content bias
- Can we do better?
- Possible strategies
- Increase the aligned reads
- Trisomy 18 (2)
- Trisomy 13 (2)
- Reduce the GC effect
- Locally weighted scatter plot smoothing
- Before and after GC correction
- Trisomy 18 (3)
- Trisomy 13 (3)
- Why has Trisomy 13/18 detection improved?
- The coefficient of variation plot
- Summary of Trisomy detection
- How far can we push this technology?
- This is a technically challenging technology
- Fetal genome inherited from mother and father (1)
- Fetal genome inherited from mother and father (2)
- Hunting the fetal genome inside the mother
- Hunting the paternal genome (1)
- Hunting the paternal genome (2)
- Detection of maternal half of the fetal genome (1)
- Detection of maternal half of the fetal genome (2)
- Hunting and assembling millions of pieces
- Does this work?
- Clinical case
- Genetic maps
- The sequencing (1)
- The sequencing (2)
- Sequencing results (1)
- Sequencing results (2)
- The sequence & non-invasive prenatal diagnosis
- The beta-globin gene
- Paternal mutation in the beta-globin gene
- Paternally inherited mutation detection
- Maternal mutation in the beta-globin gene (1)
- Maternal mutation in the beta-globin gene (2)
- Relative haplotype dosage (RHDO) analysis (1)
- Sequential probability ratio test (SPRT)
- Relative haplotype dosage (RHDO) analysis (2)
- Fetus is a carrier of beta-thalassemia
- Targeted sequencing
- Target enrichment (1)
- Target enrichment (2)
- Target enrichment (3)
- Fetal DNA proportion vs. genome enrichment level
- Targeted sequencing implications (1)
- Biology of plasma DNA
- Paired end sequencing
- Size analysis
- Targeted sequencing implications (2)
- Conclusions
- Acknowledgements (1)
- Acknowledgements (2)
- Thank you
Topics Covered
- Overview of plasma nucleic acids
- Discovery and basic biology of circulating fetal DNA
- T21 detection from maternal plasma
- T13/18 detection from maternal plasma
- Fetal genome scanning
- Targeted sequencing from maternal plasma
- Size analysis of plasma DNA
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Talk Citation
Lo, Y.M.D. (2012, September 27). Non-invasive prenatal diagnostics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved February 19, 2019, from https://hstalks.com/bs/2400/.Publication History
Non-invasive prenatal diagnostics
Published on September 27, 2012
55 min