Prenatal Genetic Counseling

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.

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. 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.