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Prenatal Genetic Counseling - 1st Edition - ISBN: 9780128233290

Prenatal Genetic Counseling

1st Edition

Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty

Editors: Sam Riedijk Karin Diderich
Paperback ISBN: 9780128233290
Imprint: Academic Press
Published Date: 1st September 2021
Page Count: 312
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Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, translational researchers, and administrators seeking to ethically implement clinical genomics. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis or whole genome sequencing, ultrasound screening, and prenatal diagnosis for known hereditary conditions, among others. Other sections examine specific challenges in clinical translation, and in field, where decisions about life or death are made.

Accordingly, this book includes cases the authors found personally challenging, which are in turn analyzed by a psychologist and translated into practical suggestions for an improved counseling experience. Finally, an ending chapter discusses next steps in prenatal genetic counseling research and clinical implementation, noting which counseling practices are currently grounded in scientific research.

Key Features

  • Features a range of international chapter authors who address prenatal medicine from bench-to-bedside
  • Covers the use and psychological implications of technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis, exome sequencing, whole genome sequencing, and ultrasound screening
  • Discusses next steps for prenatal genetic counseling research and common challenges in clinical implementation, including detailed case studies that examine difficult counseling experiences


Active researchers, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, andrology, embryology, endocrinology, bioinformatics, prenatal testing, psychology, psychiatry, and genetic testing; genetic counselors; bioethicists; fertility specialists; hospital administrators. Clinicians of life science, genetics, and medicine

Table of Contents

  1. A flow from screening to diagnostics p.m. input from different countries
    2. The psychology of prenatal genetic decision-making
    3. Whole exome sequencing: a changing landscape of prenatal counseling
    4. Dealing with uncertainties
    5. Organizing support for pregnant couples facing prenatal congenital anomalies
    6. A role for midwives?
    7. Addressing diversity in prenatal counseling
    8. Applying meaning: personal narratives of prenatal genetic information
    9. About grief
    10. Case analysis of prenatal counseling: translating impact on the counselor to best practices of care
    Concluding remarks


No. of pages:
© Academic Press 2021
1st September 2021
Academic Press
Paperback ISBN:

About the Editors

Sam Riedijk

As a counselor, Dr. Sam Riedijik conducts clinically based psychological research to support psychological support in the rapidly advancing field of clinical genetics. Over the past five years her attention has focused on the broadening scope of prenatal genetic testing and its implications for patient informed decision-making and well-being. She has focused on the psychological aspects of the introduction of genome editing techniques in patient treatment of monogenic disorders such as Huntington’s and Pompe disease. Dr. Riedijik also provides pre- and post-test counseling and decision-counseling to patients opting for presymptomatic testing for oncogenetic and neurogenetic diseases. In recent years, her main areas of patientcare have been decision-counselling and aftercare to patients who are confronted with fetal anomalies in their pregnancy.

Affiliations and Expertise

Department of Clinical Genetics, Erasmus MC Faculty, Wytemaweg, Rotterdam, 
The Netherlands

Karin Diderich

Dr. Karin Diderich has been working as a staff member for the Department of Clinical Genetics at Erasmus MC since 2011, with prenatal genetics as her main focus area in patient care as well as in research and education. Karin is closely involved in the expansion of the possibilities of diagnostics for structural abnormalities in pregnancies. Karin is a Lecturer in the medicine curriculum and the Minor Genetics in Society. Karin studied medicine at the Erasmus University. After her MD, she performed PhD research at the department of Genetics at Erasmus MC. Karin is a member of the national VKGN Quality Committee, the Working Group on Information and Education about Prenatal Screening of the RIVM, the VKGN Working Group on Prenatal Genetics, the Working Group on Prenatal Diagnostics and Therapy (WPDT) and the Working Group on Skeletal Dysplasia.

Affiliations and Expertise

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands

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