Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation.
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Table of ContentsSection 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