Noninvasive Prenatal Testing (NIPT)

Noninvasive Prenatal Testing (NIPT)

Applied Genomics in Prenatal Screening and Diagnosis

1st Edition - August 19, 2018

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  • Editors: Lieve Page-Christiaens, Hanns-Georg Klein
  • Paperback ISBN: 9780128141892
  • eBook ISBN: 9780128141908

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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


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

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

Dr. Page-Christiaens currently serves as Associate Medical Director EMEA, Reproductive Genetic Health, Clinical Genomics Group, Illumina Inc. In the past, she has held a position as Associate Professor at the University Medical Center Utrecht, Department Obstetrics and Gynaecology, Utrecht, The Netherlands.

Affiliations and Expertise

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

Hanns-Georg Klein

Dr. 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; 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.

Affiliations and Expertise

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

Ratings and Reviews

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  • 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!