Prenatal Genetic Counseling

Over the past two decades, genetic medicine has grown from a new science to an implementable set of clinical methods and technologies whose concrete applications are revolutionizing the health sector and medical practice worldwide. As this technology makes its way into the clinic, translational biomedical researchers, clinicians, and genetic counselors are in need of a key reference that details how to maximize the usefulness of clinical genomic technology while mitigating any harm to patients, families, and communities, taking into account the subtleties of genetic risk assessment, diagnosis, prognosis, family management and parental decision-making.

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 implement 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 field where decisions about life or death of a child are made, professionals are bound to encounter their own psychological make-up. 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 counselling practices are currently grounded in scientific underpinnings, and which counseling approaches require further exploration.