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Author: Brynn Levy
Publisher: Humana
ISBN: 9781493988877
Category : Science
Languages : en
Pages : 0
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Book Description
This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.
Author: Brynn Levy
Publisher: Humana
ISBN: 9781493988877
Category : Science
Languages : en
Pages : 0
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Book Description
This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.
Author: Joyce C. Harper
Publisher: John Wiley & Sons
ISBN: 0470851732
Category : Medical
Languages : en
Pages : 278
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Book Description
Preimplantation Genetic Diagnosis (PGD) is the detection and screening of genetic abnormality in gametes prior to fertilisation and embryos fertilised in vitro prior to implantation. This exciting new text provides an introduction and overview of the principles of PGD. An exciting fusion of prenatal diagnosis (PD) with in vitro fertilisation (IVF), this book is will appeal to both the prenatal diagnosis community, of clinical geneticists and foetal medicine specialists within obstetrics and gynaecology, and the IVF community within reproductive medicine. It is also an essential introduction to PD, clinical genetics and IVF for non-specialists. A concise introduction to the field of PGD Detailed explanations of the techniques and procedures used The law and ethical implications of PGD Future uses of PGD
Author: Privacy Commissioner of Canada
Publisher: Commissaire à la protection de la vie privée
ISBN:
Category : Civil rights
Languages : en
Pages : 256
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Book Description
This report gives a simplified description of the scientific fundamentals of genetic testing and describes its present applications; establishes broad privacy principles to guide both the public and private sectors on testing matters; examines specifically how the Privacy Act regulates genetic testing by government institutions; and addresses the growing need to consider regulating private sector genetic testing. A summary of positions taken by other countries and international organizations on privacy and genetic testing is also included.
Author: Shiyang Pan
Publisher: Springer Nature
ISBN: 9811610371
Category : Medical
Languages : en
Pages : 889
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Book Description
This book covers the discovery of molecular biomarkers, the development of laboratory testing techniques and their clinical applications, focusing on basic research to clinical practice. It introduces new and crucial knowledge and ethics of clinical molecular diagnosis. This book emphasizes the applications of clinical molecular diagnostic test on health management, especially from different diseased organs. It lets readers to understand and realize precision healthcare.
Author: H.F. Baars
Publisher: Springer Science & Business Media
ISBN: 1849964718
Category : Medical
Languages : en
Pages : 453
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Book Description
Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353
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Book Description
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author: A. Kuliev
Publisher: Springer Science & Business Media
ISBN: 1468413511
Category : Medical
Languages : en
Pages : 314
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Book Description
Yury Verlinskyand Anver Kuliev Reproductive Genetics Institute, Illinois Masonic Medical Center, 836 W. Wellington chicago, IL 60657 Although introduction of a first trimester prenatal diagnosis by chorionic viIIus sampling (CVS) has considerably improved the possibility for prevention of genetic diseases, it requires a selective abortion in case of an affected fetus. Following the direction of an earlier prenatal diagnosis and to avoid the need for abortion, preimplantation genetic diagnosis has been initiated based on polar body removal and pre-embryo biopsy. The First International symposium on Preimplantation Genetics, Chicago, September 17-19, 1990, was organized to explore these important developments, to review the state of knowledge in the field, and to address existing problems to be solved for developing and improving current approaches for preimplantation diagnosis of genetic disorders. A growing interest in the subject was obvious from the wide attendance of the meeting: over 250 scientists from 19 countries participated. This was the first attempt to put together the advances in different areas of basic and applied research relevant to Preimplantation Genetic Diagnosis, with the multidisciplinary scientific program including the sessions on embryology, micromanipulation and biopsy, genetic analysis of gametes and pre-embryos, IVF, gene expression and gene therapy, and ethical and legal issues. The deliberations of the Symposium presented in the above mentioned sessions, which comprise the contents of correspond ing sections of the Proceedings, open a newarea in medical research based on the interaction of IVF and New Genetics.
Author: Eric Jauniaux
Publisher: Cambridge University Press
ISBN: 1107006473
Category : Health & Fitness
Languages : en
Pages : 211
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Book Description
Practical, evidence-based guide to managing ART pregnancies, based on 30 years of clinical experience, including gynaecological, genetic and obstetric complications.
Author: Kay Elder
Publisher: Cambridge University Press
ISBN: 9780521730723
Category : Medical
Languages : en
Pages : 285
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Book Description
This fully updated new edition of a successful and popular practical guide is an indispensable account of modern in-vitro fertilization practice. Initial chapters cover theoretical aspects of gametogenesis and embryo development at the cellular and molecular level, while the latter half of the book describes the requisites for a successful IVF laboratory and the basic technologies in ART. Advanced techniques, including pre-implantation genetic diagnosis, vitrification and stem-cell technology, are comprehensively covered, providing up-to-date analyses of these groundbreaking technologies. This edition includes: • New practical techniques, including preservation of fertility for cancer patients, stem-cell biology/technology, vitrification and in-vitro maturation • A 'refresher' study review of fundamental principles of cell and molecular biology • The latest information available from animal and human research in reproductive biology Packed with a wealth of practical and scientific detail, this is a must for all IVF practitioners.
Author: Maria I. New
Publisher: Academic Press
ISBN: 0128214252
Category : Science
Languages : en
Pages : 470
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Book Description
Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! - Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work - Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles - Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient - Teaches the best strategies and most effective use of genetic information in the patient counseling setting
