
Noninvasive Prenatal Testing (NIPT)
Applied Genomics in Prenatal Screening and Diagnosis
Description
Key Features
- 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
- Presents 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 variants
- Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT
- Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques
Readership
Active researchers, basic and translational scientists, clinicians, and students in the areas of human genetics, medical genetics, genomics, reproductive medicine, gynecology, obstetrics, andrology, embryology, prenatal testing, and genetic testing; genetic counselors; bioethicists; fertility specialists; law and policy makers and regulators; medical students and residents; pharmacologists
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 NIPTSection 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 ChallengesSection 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
Product details
- No. of pages: 405
- Language: English
- Copyright: © Academic Press 2018
- Published: August 19, 2018
- Imprint: Academic Press
- Paperback ISBN: 9780128141892
- eBook ISBN: 9780128141908
About the Editors
Lieve Page-Christiaens
Affiliations and Expertise
Hanns-Georg Klein
Affiliations and Expertise
Ratings and Reviews
Latest reviews
(Total rating for all reviews)
Chen P. Sun Jan 02 2022
Cell free DNA in clinical practice
A very good book provides a lot of information for cell free DNA in various applications, not only in screening but also in diagnosis.
TeodorKapusta Sun Dec 08 2019
Title is as it should be - short and meaningful
A good book that explains all the science behind NIPT and has answered a lot of my curious questions. It is trying to cover all the actual subtopics from laboratory techniques, NIPT aneuploidies screening, comparations of prenatal screenings, twin pregnancies, blood typing, impact on society, ethical questions, cost effectiveness and many more... However thr book is written more on a scientific level than practical and sometimes you can get lost in the amount of data & info...Still it is a good book and I recommed it if you want to explore more the area of NIPT 👍
DickOepkes Sat Dec 08 2018
Non Invasive Prenatal Testing (NIPT)
A must-read book on latest insights, technology and expectations for the future of the revolution in prenatal testing; NIPT!