Prenatal Genetic Counseling

Prenatal Genetic Counseling

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

1st Edition - October 20, 2021

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  • Editors: Sam Riedijk, Karin Diderich
  • Paperback ISBN: 9780128233290
  • eBook ISBN: 9780128233313

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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, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. 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. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning.

Key Features

  • Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students
  • Covers 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 and addresses diversity in prenatal genetic counseling
  • Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ 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

  • Cover image
  • Title page
  • Table of Contents
  • Copyright
  • Dedication
  • List of contributors
  • Preface
  • Section I: The Landscape of Prenatal Diagnosis
  • Chapter 1. A flow from screening to diagnostics
  • Abstract
  • Introduction of combined screening
  • Implementation of CFTS, effects, and public discourse
  • The discussion of chromosomal microarray, karyotyping, and noninvasive prenatal testing in Denmark
  • Current status
  • Termination of pregnancy
  • Data in registries
  • International comparisons
  • The future
  • References
  • Chapter 2. From the consulting room: personal narratives of giving prenatal information about fetal anomalies
  • Abstract
  • Clinical narratives
  • Clinical dilemmas
  • Management options when a fetal anomaly is detected
  • The concept of positive health
  • Risk communication and risk perception
  • Parental decision-making
  • Domains of good care
  • Prerequisites for good aftercare
  • Recommendations
  • Acknowledgments
  • References
  • Chapter 3. Whole-exome sequencing: A changing landscape of prenatal counseling
  • Abstract
  • Introduction
  • Lessons learned from introducing array analysis in prenatal diagnostics
  • Whole-exome sequencing in prenatal diagnostics
  • References
  • Chapter 4. Dealing with uncertainty in prenatal genomics
  • Abstract
  • What is uncertain in prenatal genomics?
  • Parents’ experiences of uncertainty in the prenatal setting
  • Health-care professionals’ experiences of dealing with uncertainty in the prenatal setting
  • References
  • Chapter 5. Addressing diversity in prenatal genetic counseling
  • Abstract
  • Introduction
  • Concepts of cultural, religious, and ethnic differences
  • Inequalities in prenatal care within a multiethnic women’s population
  • Best practice—tailored prenatal genetic counseling
  • Self-assessment
  • References
  • Section II: Patient Journey and Offering Support
  • Section II. Patient journey and offering support
  • Introduction
  • Chapter 6. The discovery
  • Abstract
  • Psychological challenges during the phase of diagnosis in decision-making
  • Help couples understand the information
  • Roller coaster
  • Main recommendations
  • References
  • Chapter 7. The iterative process of decision-making
  • Abstract
  • Diagnosis, counseling, and decision-making
  • Psychological challenge for couples during this timeframe
  • When the diagnosis is hard to determine
  • Decision-making
  • Decision to continue the pregnancy
  • Methods of termination
  • References
  • Chapter 8. Ending the pregnancy
  • Dilatation and Curettage
  • Dilatation and evacuation
  • Induction of labor
  • Preparing for the delivery and birth
  • What can we offer couples?
  • Psychosocial care
  • Contact with other couples
  • Future pregnancies
  • Hospitalization and delivery in the case of induced labor
  • Personal feelings of the health-care professional
  • Work with health care professionals
  • What can we offer couples?
  • Seeing and holding the baby
  • Differences in mothers and fathers
  • Need for practical information and more practical matters
  • After delivery
  • References
  • Chapter 9. Grief
  • Abstract
  • “Psychological challenge for couples in this time frame”
  • Mourning in men and women
  • Support and network
  • “Support for the whole family around loss after prenatal diagnosis of fetal anomaly”
  • Saying farewell
  • Woman
  • Partner
  • Pregnant–nonpregnant differences
  • Guiding siblings through the termination of pregnancy
  • Main recommendations
  • References
  • Chapter 10. Building a life again
  • Abstract
  • Case P
  • What can we learn?
  • References
  • Chapter 11. Organizing support
  • Abstract
  • The origins of Antenatal Results and Choices
  • Support after termination for fetal abnormality becomes Antenatal Results and Choices
  • How Antenatal Results and Choices works
  • Conclusion
  • References
  • Chapter 12. Staying young; student reflections
  • Abstract
  • Phase 1: the discovery
  • Phase 2: decision-making
  • Phase 3: the delivery
  • Phase 4: after ending the pregnancy
  • Reflecting on support needed throughout the process
  • Discourse as a valuable learning experience
  • Conclusion
  • Appendix. Concluding remarks
  • Acknowledgment
  • Index

Product details

  • No. of pages: 226
  • Language: English
  • Copyright: © Academic Press 2021
  • Published: October 20, 2021
  • Imprint: Academic Press
  • Paperback ISBN: 9780128233290
  • eBook ISBN: 9780128233313

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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