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1. Introduction
2. Non-invasive prenatal diagnosis
3. Discovery of circulating nucleic acids
4. Landmark developments
5. Tumor-associated microsatellite alterations
6. Placenta as a pseudomalignant tissue
7. Presence of fetal DNA in maternal plasma
8. Demonstration of fetal DNA in maternal plasma
9. A rise in fetal DNA as pregnancy progresses
10. Fractional concentration
11. Rapid fetal DNA clearance
12. Clinical applications
13. Down syndrome
14. Fetal DNA constitute a minority of the DNA
15. Targeting fetal-specific nucleic acids
16. Using PLAC4 gene to diagnose trisomy 21 fetus
17. CpG methylation
18. A general approach
19. 1000 genome-equivalents/Ml
20. Prenatal diagnosis by single molecule counting
21. Next-generation DNA sequencing
22. DNA genomic sequencing in maternal plasma (1)
23. DNA genomic sequencing in maternal plasma (2)
24. DNA genomic sequencing in maternal plasma (3)
25. Down syndrome detection (1)
26. Down syndrome detection (2)
27. Fetal sex detection
28. The precision for chromosome presentation
29. Large scale validation
30. Large scale study
31. 8-plex sequencing protocol
32. 2-plex sequencing protocol
33. An example of another study using former method
34. Latest generation of sequencers
35. Conventional screening in Honk Kong
36. Trisomy 13/18 detection (1)
37. Trisomy 13/18 detection (2)
38. Trisomy 18 (1)
39. Trisomy 13 (1)
40. Why is Trisomy 13/18 detection a problem?
41. GC content bias
42. Can we do better?
43. Possible strategies
44. Increase the aligned reads
45. Trisomy 18 (2)
46. Trisomy 13 (2)
47. Reduce the GC effect
48. Locally weighted scatter plot smoothing
49. Before and after GC correction
50. Trisomy 18 (3)
51. Trisomy 13 (3)
52. Why has Trisomy 13/18 detection improved?
53. The coefficient of variation plot
54. Summary of Trisomy detection
55. How far can we push this technology?
56. This is a technically challenging technology
57. Fetal genome inherited from mother and father (1)
58. Fetal genome inherited from mother and father (2)
59. Hunting the fetal genome inside the mother
60. Hunting the paternal genome (1)
61. Hunting the paternal genome (2)
62. Detection of maternal half of the fetal genome (1)
63. Detection of maternal half of the fetal genome (2)
64. Hunting and assembling millions of pieces
65. Does this work?
66. Clinical case
67. Genetic maps
68. The sequencing (1)
69. The sequencing (2)
70. Sequencing results (1)
71. Sequencing results (2)
72. The sequence & non-invasive prenatal diagnosis
73. The beta-globin gene
74. Paternal mutation in the beta-globin gene
75. Paternally inherited mutation detection
76. Maternal mutation in the beta-globin gene (1)
77. Maternal mutation in the beta-globin gene (2)
78. Relative haplotype dosage (RHDO) analysis (1)
79. Sequential probability ratio test (SPRT)
80. Relative haplotype dosage (RHDO) analysis (2)
81. Fetus is a carrier of beta-thalassemia
82. Targeted sequencing
83. Target enrichment (1)
84. Target enrichment (2)
85. Target enrichment (3)
86. Fetal DNA proportion vs. genome enrichment level
87. Targeted sequencing implications (1)
88. Biology of plasma DNA
89. Paired end sequencing
90. Size analysis
91. Targeted sequencing implications (2)
92. Conclusions
93. Acknowledgements (1)
94. Acknowledgements (2)
95. 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

Links

Series:

• Biomarkers

Categories:

• Clinical Medicine
• Diseases, Disorders & Treatments
• Methods
• Reproduction & Development

Therapeutic Areas:

• Gynaecology & Obstetrics

Talk Citation

Publication History

• Published on September 27, 2012

Financial Disclosures

• Prof. Y. M. Dennis Lo, Consultant: Sequenom ; Grant/Research Support (Principal Investigator): Sequenom ; Stock Shareholder (Self-managed): Sequenom ; Licensing agreement: Sequenom