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.
- 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.
Author(s): Lieve Page-Christiaens; Hanns-Georg Klein
Edition: 1st
Publisher: Academic Press
Year: 2018
Language: English
Commentary: True PDF
Pages: xxvii, 377
City: Cambridge, MA
Tags: Prenatal diagnosis; Genomics; MEDICAL / Gynecology & Obstetrics; Personal health & safety.
Contributors xix
Acronyms and Abbreviations xxiii
SECTION 1 CELL-FREE DNA (cfDNA): OVERVIEW AND TECHNOLOGY
CHAPTER 1 Fetal DNA in Maternal Plasma: An Amazing Two Decades 3
Y.M. Dennis Lo, S.H. Cheng
CHAPTER 2 Understanding the Basics of NGS in the Context of NIPT 7
Dale Muzzey
CHAPTER 3 The Technology and Bioinformatics of Cell-Free DNA-Based NIPT 25
Dale Muzzey
SECTION 2 CELL-FREE DNA IN CLINICAL PRACTICE
CHAPTER 4 Prenatal Screening for Common Aneuploidies Before and After the Introduction of Cell-Free DNA-Based Prenatal Testing 51
Adalina Sacco, Pranav Pandya
CHAPTER 5 Why Cell-Free DNA-Based Noninvasive Prenatal Testing for Fetal Chromosome Anomalies Is Not Diagnostic 67
T. Harasim, A. Wagner
CHAPTER 6 The Role of Cell-Free DNA-Based Prenatal Testing in Twin Pregnancy 83
Fiona L. Mackie, Mark D. Kilby
CHAPTER 7 Genome-Wide Cell-Free DNA-Based Prenatal Testing for Rare Autosomal Trisomies and Subchromosomal Abnormalities 97
Mark D. Pertile
CHAPTER 8 Noninvasive Fetal Blood Group Typing 125
C. Ellen van der Schoot, Dian Winkelhorst, Frederik B. Clausen
CHAPTER 9 Noninvasive Prenatal Diagnosis of Monogenic Disorders 157
Stephanie Allen, Elizabeth Young, Amy Gerrish
CHAPTER 10 Maternal Constitutional and Acquired Copy Number Variations 179
Maria Neofytou, Joris Robert Vermeesch
SECTION 3 CLINICAL INTEGRATION
CHAPTER 11 Best Practices for Integrating Cell-Free DNA-Based NIPT Into Clinical Practice 191
Zandra C. Deans, Nicola Wolstenholme, Ros J. Hastings
CHAPTER 12 Quality Assurance and Standardization of Cell-Free DNA-Based Prenatal Testing Laboratory Procedures 207
Peter W. Schenk, Verena Haselmann
CHAPTER 13 Decisional Support for Expectant Parents 217
Jane Fisher
CHAPTER 14 Cell-Free DNA-Based Noninvasive Prenatal Testing and Society 235
Carla van El, Lidewij Henneman
CHAPTER 15 Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination 251
Wybo Dondorp, Angus Clarke, Guido de Wert
CHAPTER 16 Cost-Effectiveness of Cell-Free DNA-BASED Noninvasive Prenatal Testing: Summary of Evidence and Challenges 269
Stephen Morris, Caroline S. Clarke, Emma Hudson
SECTION 4 THE FUTURE
CHAPTER 17 Exome Sequencing in the Evaluation of the Fetus With Structural Anomalies 289
Elizabeth Quinlan-Jones, Mark D. Kilby
CHAPTER 18 Cell-Based Noninvasive Prenatal Testing: A Promising Path for Prenatal Diagnosis 307
Liesbeth Vossaert, Arthur L. Beaudet
CHAPTER 19 Maternal Circulating Nucleic Acids as Markers of Placental Health 333
Francesca Gaccioli, D. Stephen Charnock-Jones, Gordon C.S. Smith
CHAPTER 20 Prenatal Treatment of Genetic Diseases in the Unborn 353
E.J.T. Verweij, D. Oepkes
Index 369
