Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis - Softcover

Über die Autorinnen und Autoren

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.

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.

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Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis

Edited by Lieve Page-Christiaens and Hanns-Georg Klein

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.

This book:

• Provides a thorough overview of the history of cfDNA NIPT, laboratory techniques and bioinformatics, use for screening and diagnostics for a wide range of genetic conditions, optimal approaches for integrating cfDNA NIPT into clinical practice, quality assurance and standardization, clinical decision support and societal points of view, prenatal treatment of genetic diseases, NIPT using fetal cells, and next steps in research and development.

• Leading international experts discuss in-depth the application of CfDNA NIPT in early pregnancy screening for common and rare fetal aneuploidies, single gene disorders and fetal blood groups. Benefits and limitations of cfDNA based NIPT are described in detail. Incidental findings such as maternal constitutional and acquired copy number variants are given due attention.

• Full color imagery enhances concept illustration, and helps fill the gap between technology and practice.

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.

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.