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

Noninvasive Prenatal Testing (NIPT)

1st Edition

Applied Genomics in Prenatal Screening and Prenatal 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

Non-Invasive 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.

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: 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

Details

No. of pages:
400
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