Documents Conseil génétique 5 résultats

- 1 ressource en ligne (xv, 210 pages)

Conseil génétique ; Diagnostics prénatals

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

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Diagnostics prénatals ; Conseil génétique ; Foetus - Malformations

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers.

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- xiii, 323 p. : ill.
Cote : WM 140 S666p 2008

Maladies mentales - Aspect génétique ; Conseil génétique

Psychiatric Genetics is the first book to focus on clinical applications of genetics in psychiatry. It covers issues involved in genetic counseling, the interpretation of familial and genetic information for clinical use, information regarding risks associated with specific psychiatric disorders, and the uses of genetic testing. Written explicitly for practitioners, it offers a clinically relevant resource to help readers interpret the often bewildering flood of information about genetics and to facilitate responding to patients requests to predict the risk of recurrence of psychiatric illness or provide information about reproductive and pregnancy-related issues.

The book first presents a framework for understanding and critically evaluating psychiatric genetic research literature, then provides guidelines for genetic counseling. Subsequent chapters summarize genetic aspects of major psychiatric conditions from childhood-onset disorders through psychotic, mood, and anxiety disorders to dementia as well as neuropsychiatric manifestations of other genetic disorders. Risk/benefit considerations related to medication use during pregnancy are then presented. Coverage of ethical, legal, and social implications illustrates the dilemmas that arise with advances in genetic research. Whether used as a clinical guide, reference, or ancillary text, Psychiatric Genetics provides the most up-to-date source on the impact of this growing field on everyday psychiatric practice.

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- xxvii, 355 p. : ill.
Cote : QZ 50 B472p 2010

Conseil génétique ; Anamnèse ; Généalogie

The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients.

Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including:

• Value and utility of a thorough medical-family history
• Directed questions to ask when developing a medical-family history for specific disease conditions
• Use of pedigrees to identify individuals with an increased susceptibility to cancer
• Verification of family medical information
• Special considerations when adoptions or gamete donors are involved
• Ethical issues that may arise in recording a pedigree

Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved.

This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.

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- xvii, 152 p. : ill.
Cote : QZ 50 S347L 2010

Conseil génétique ; Génétique médicale ; Gestion du risque

The purpose of this book is to provide genetic counselors with varying levels of experience and expertise. It is the first book to specifically address genetic counseling, as opposed to general healthcare risk management.

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