Noninvasive Prenatal Testing (NIPT)
 - 1st Edition - ISBN: 9780128141892

Noninvasive Prenatal Testing (NIPT)

1st Edition

Applied Genomics in Prenatal Screening and Diagnosis

Editors: Lieve Page-Christiaens Hanns-Georg Klein
Paperback ISBN: 9780128141892
Imprint: Academic Press
Published Date: 1st August 2018
Page Count: 400
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Description

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.

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 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

Details

No. of pages:
400
Language:
English
Copyright:
© Academic Press 2018
Published:
Imprint:
Academic Press
Paperback ISBN:
9780128141892

About the Editor

Lieve Page-Christiaens

Dr. Lieve Page-Christiaens currently serves as Associate Medical Director EMEA Reproductive Genetic Health, Clinical Genomics Group, Illumina Inc., specializing in perinatal genetics, non-invasive prenatal diagnosis in maternal blood, and maternal diseases in pregnancy. In the past she has held positions and served as Associate Professor at University Medical Center Utrecht, Department Obstetrics and Gynaecology, Utrecht, The Netherlands. She has also served as a Member of the Committee for Perinatal Screening of the Dutch Health Council, Ethical Advisor for the International Study Consortium “Dynamics of Youth” and Chairman of the Supervisory Board for Prenatal Screening Infections and Erythrocyte Antibodies of the National Institute for Public Health and Environment. Dr. Page-Christiaens has published over thirty scientific papers to-date in such journals as Obstetrics and Gynecology, Prenatal Diagnosis, Clinical Genetics, and the European Journal of Obstetrics & Gynecology and Reproductive Biology.

Affiliations and Expertise

Gynecologist and Associate Medical Director EMEA Reproductive Genetic Health, Clinical Genomics Group, Illumina Inc., The Netherlands

Hanns-Georg Klein

Dr. Hanns-Georg Klein currently serves as Medical Geneticist and Chief Executive Officer at the Martinsried Center for Human Genetics and Laboratory Medicine, Martinsried, Germany, where he specializes in developing innovative molecular genetic screening tests. In the past he has served as Senior Researcher at University Hospital München, München, Germany; a Research Associate at the National Institutes of Health (USA); and Research Associate at the National Heart, Lung, and Blood Institute, Division of Intramural Research, Molecular Disease Branch. Dr. Klein has published 90 scientific papers to-date in such journals as the European Journal of Medical Genetics, Human Mutation, Nucleic Acids Research, Journal of Biological Chemistry, the Journal of Clinical Investigation, and Pediatric Nephrology. In 2014, Dr. Klein and his colleagues developed their own NGS-based NIPT assay, the Prenatalis test.

Affiliations and Expertise

Medical Geneticist and Clinical Pathologist, Chief Executive Officer, Martinsried Center for Human Genetics and Laboratory Medicine, Martinsried, Germany

Ratings and Reviews