Section 1 : Cell-freeDNA (CfDNA): Overview and Technology 1. Fetal
DNA in Maternal Plasma: an amazing two decades 2. Understanding the
Basics of Next Generation Sequencing in the Context of Cell-free
DNA based NIPT 3. The Technology and Bioinformatics of Cell-free
DNA based NIPT
Section 2 : CfDNA in Clinical Practice 4. Prenatal Screening for
Common Aneuploidies before and after the Introduction of Cell-free
DNA based NIPT 5. Why Cell-free DNA based NIPT for Fetal Chromosome
Anomalies is not Diagnostic 6. The role of cell-free DNA based NIPT
in Twin Pregnancy 7. Genomewide Testing for Autosomal Trisomies and
Copy Number Variations 8. Non-Invasive Fetal Blood Group Typing 9.
Noninvasive Prenatal Diagnosis (NIPD) of Monogenic Disorders 10.
Maternal Constitutional and Acquired Copy Number Variations
(CNVs)
Section 3 : Clinical Integration 11. Best Practices for Integrating
Cell-free DNA based NIPT into Clinical Practice 12. Quality
Assurance and Standardization of Cell-free DNA based NIPT
laboratory procedures 13. Decisional support for expectant parents
14. Cell-free DNA based NIPT and Society 15. Ethics of Cell-free
DNA based NIPT for sex chromosome aneuploidies and sex
determination 16. Cost-Effectiveness of Cell-free DNA based NIPT :
Summary of Evidence and Challenges
Section 4 : The Future 17. Exome Sequencing in the Evaluation of
the Fetus with Structural Anomalies 18. Cell-based NIPT: A
Promising Path for Prenatal Diagnosis 19. Maternal circulating
nucleic acids as a marker of placental health 20. Prenatal
Treatment of Genetic Diseases in the unborn
Dr. Page-Christiaens currently serves as Associate Medical Director EMEA, Reproductive Genetic Health, Clinical Genomics Group, Illumina Inc. In the past, she has held a position as Associate Professor at the University Medical Center Utrecht, Department Obstetrics and Gynaecology, Utrecht, The Netherlands. Dr. Klein currently serves as Medical Geneticist and Chief Executive Officer at the Martinsried Center for Human Genetics and Laboratory Medicine, Martinsried, Germany, where he specializes in developing innovative molecular genetic screening tests. In the past, he has served as Senior Researcher at University Hospital München, München, Germany; Research Associate at the National Institutes of Health (USA); and Research Associate at the National Heart, Lung, and Blood Institute, Division of Intramural Research, Molecular Disease Branch.
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