目次

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