Prenatal Diagnosis
Prenatal Diagnosis

Author: Brynn Levy

Publisher: Humana

Published: 2018-12-01

Total Pages: 0

ISBN-13: 9781493988877

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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.

Preimplantation Genetic Diagnosis
Preimplantation Genetic Diagnosis

Author: Joyce C. Harper

Publisher: John Wiley & Sons

Published: 2003-01-17

Total Pages: 278

ISBN-13: 0470851732

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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

Dépistage Génétique Et la Vie Privée
Dépistage Génétique Et la Vie Privée

Author: Privacy Commissioner of Canada

Publisher: Commissaire à la protection de la vie privée

Published: 1992

Total Pages: 256

ISBN-13:

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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.

Choosing Between Possible Lives
Choosing Between Possible Lives

Author: Rosamund Scott

Publisher: Bloomsbury Publishing

Published: 2007-12-20

Total Pages: 390

ISBN-13: 1847313809

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To what extent should parents be able to choose the kind of child they have? The unfortunate phrase 'designer baby' has become familiar in debates surrounding reproduction. As a reference to current possibilities the term is misleading, but the phrase may indicate a societal concern of some kind about control and choice in the course of reproduction. Typically, people can choose whether to have a child. They may also have an interest in choosing, to some extent, the conditions under which they do so, such as whether they have a child with a serious disability or disease. The purpose of this book is to explore the difficult and controversial question of the appropriate ethical and legal extent of reproductive autonomy in this context. The book examines ethical, legal and public policy issues in prenatal screening, prenatal diagnosis (PND), selective abortion and preimplantation genetic diagnosis (PGD). It explores the ethics of these selection practices and the ability of current ethical guidelines and legal mechanisms, including the law on selective abortion and wrongful birth, to deal with advances in genetic and other knowledge in these areas. Unlike in the United States, in England the relevant law is not inherently rights-based, but the impact of the Human Rights Act 1998 inevitably raises questions about the proper scope of reproductive autonomy in this context. The implications of the analysis are considered for the development of relevant law, public policy and ethical guidelines and will be of interest to academics in medical law and ethics, health professionals, lawyers, those working on public policy and students with an interest in these issues.

Prenatal and Preimplantation Diagnosis
Prenatal and Preimplantation Diagnosis

Author: Joann Paley Galst

Publisher: Springer

Published: 2015-08-26

Total Pages: 356

ISBN-13: 3319189115

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This book aims to expand the awareness and understanding of the emotional sequelae of prenatal/preimplantation diagnosis, prenatal decision-making, pregnancy interruption for fetal anomaly, multifetal reduction for high-order multifetal pregnancies and preimplantation choices involving the selection of embryos. Featuring a multi-disciplinary approach, it examines prenatal and preimplantation diagnosis from medical, legal, ethical and psychosocial perspectives. Prenatal and Preimplantation Diagnosis is an excellent resource for obstetricians, reproductive endocrinologists, clinical geneticists, genetic counselors and mental health professionals seeking to better support patients faced with difficult choices.

Clinical Molecular Diagnostics
Clinical Molecular Diagnostics

Author: Shiyang Pan

Publisher: Springer Nature

Published: 2021-07-08

Total Pages: 889

ISBN-13: 9811610371

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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.

Assessing Genetic Risks
Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

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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.

Human Reproductive and Prenatal Genetics
Human Reproductive and Prenatal Genetics

Author: Peter C.K. Leung

Publisher: Elsevier

Published: 2023-03-22

Total Pages: 930

ISBN-13: 0323913814

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Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine

Clinical Cardiogenetics
Clinical Cardiogenetics

Author: H.F. Baars

Publisher: Springer Science & Business Media

Published: 2010-12-25

Total Pages: 453

ISBN-13: 1849964718

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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?

Reproductive Genetics
Reproductive Genetics

Author: Sean Kehoe

Publisher: RCOG

Published: 2009-11

Total Pages: 245

ISBN-13: 1906985162

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This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.