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

Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Prenatal Diagnosis presents the first authoritative volume on NIPT foundations, methods and clinical implementation. Eighteen chapter contributions from leading international experts in NIPT provide a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects, optimal approaches for integrating NIPT into clinical practice, quality assurance and standardization of NIPT, clinical decision support and patient counseling, secondary findings, and next steps in NIPT research.

With full color imagery to enhance concept illustration and detailed descriptions of the benefits (and limitations) of NIPT, this book offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the background information, methodology and patient counseling aspects essential for using NIPT both successfully and ethically in daily practice.

Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defectsPresents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variantsIncludes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPTOffers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques

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