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

Since its introduction in 2012, Non-Invasive Prenatal Testing (NIPT) has been employed on millions of pregnant women, in more than 90 countries worldwide, to effectively screen for and diagnose neural tube defects, chromosome abnormalities, and gene mutations leading to a variety of genetic disorders and birth defects. With Non-Invasive Prenatal Testing: Cell-free DNA in Prenatal Screening and Diagnosis, Drs. Hanns-Georg Klein and Lieve Page-Christiaens have compiled 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. 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 variants are also discussed in-depth. With full color imagery to enhance concept illustration, as well as detailed descriptions of the benefits (and limitations) of NIPT, Non-Invasive Prenatal Testing offers clinicians, researchers, genetic counselors, and reproductive specialists of all kinds the background information, methodology, and patient counseling aspects essential for using NIPT 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 defects, optimal approaches for integrating NIPT into clinical practice, quality assurance and standardization of NIPT, clinical decision support and patient counseling, prenatal treatment of genetic diseases, NIPT using fetal cells, and next steps in NIPT researchLeading international experts discuss in-depth 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 variantsFull color imagery 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 background information, methodology, and patient counseling aspects essential for using NIPT successfully and ethically in daily practice INDICE: Section 1: Background and overview 1. The discovery of cfDNA: Past and Future 2. Understanding the Basics of NGS 3. Laboratory Techniques for NIPT and NIPD Section 2: Applications 4. Prenatal Screening for Common Aneuploidies before and after the Introduction of NIPT 5. Why is NIPT for Fetal Chromosome Anomalies not Diagnostic? Limitations 6. Genomewide Testing for Autosomal Trisomies and Copy Number Variations (extended testing) 7. Non-Invasive Fetal Blood Group Typing 8. Non Invasive Prenatal Diagnosis of Monogenic Disorders 9. Maternal Constitutional and Acquired CNVs Section 3: Clinical Integration and Future Potential 10. Best Practices for integrating NIPT into Clinical Practice 11. Quality Assurance and Standardization of NIPT 12. NIPT as a marker of Placental Health 13. Prenatal Treatment of Genetic Diseases in the unborn 14. Counseling pregnant patients on NIPT 15. Decisional support for patients 16. NIPT and Society 17. Next Steps in NIPT Development and Research 18. NIPT using fetal cells

• ISBN: 978-0-12-814189-2
• Editorial: Academic Press
• Encuadernacion: Rústica
• Páginas: 400
• Fecha Publicación: 01/08/2018
• Nº Volúmenes: 1
• Idioma: Inglés