Noninvasive Prenatal Testing (NIPT). Applied Genomics in Prenatal Screening and Diagnosis

Table of Contents

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

Authors

Lieve Page-Christiaens Gynecologist and Associate Medical Director EMEA Reproductive Genetic Health, Clinical Genomics Group, Illumina Inc., The Netherlands. 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. Hanns-Georg Klein Medical Geneticist and Clinical Pathologist, Chief Executive Officer, Martinsried Center for Human Genetics and Laboratory Medicine, Martinsried, Germany. 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.