Prenatal Genetic Counseling

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

Sam Riedijk, Karin E.M. Diderich

• Publisher: Academic Press
• Year: 2021
• Print ISBN: 9780128233290
• eBook ISBN: 9780128233313
• Topic: Medicine
• Subtopic: Genetics in Medicine

**Selected for Doody's Core Titles® 2024 in Clinical Genetics**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. - 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

Table of contents

• Cover
• Title page
• Table of Contents
• Copyright
• Dedication
• Contents
• List of contributors
• Preface
• List of Illustrations
• List of Tables
• Chapter 1 : A flow from screening to diagnostics
• Chapter 2 : From the consulting room: personal narratives of giving prenatal information about fetal anomalies
• Chapter 3 : Whole-exome sequencing: A changing landscape of prenatal counseling
• Chapter 4 : Dealing with uncertainty in prenatal genomics
• Chapter 5 : Addressing diversity in prenatal genetic counseling
• Section II : Patient journey and offering support
• Chapter 6 : The discovery
• Chapter 7 : The iterative process of decision-making
• Chapter 8 : Ending the pregnancy
• Chapter 9 : Grief
• Chapter 10 : Building a life again
• Chapter 11 : Organizing support
• Chapter 12 : Staying young; student reflections
• Appendix : Concluding remarks
• Index
• A