Download or read book Prenatal Diagnosis written by Brynn Levy and published by Humana. This book was released on 2018-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Prenatal and Preimplantation Diagnosis written by Joann Paley Galst and published by Springer. This book was released on 2015-08-26 with total page 356 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book D pistage G n tique Et la Vie Priv e written by Privacy Commissioner of Canada and published by Commissaire à la protection de la vie privée. This book was released on 1992 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Preimplantation Genetic Diagnosis written by Joyce C. Harper and published by John Wiley & Sons. This book was released on 2003-01-17 with total page 278 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Clinical Molecular Diagnostics written by Shiyang Pan and published by Springer Nature. This book was released on 2021-07-08 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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?
Download or read book Human Reproductive and Prenatal Genetics written by Peter C.K. Leung and published by Elsevier. This book was released on 2023-03-22 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: **Selected for Doody's Core Titles® 2024 in Clinical Genetics** 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
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Preimplantation Genetics written by A. Kuliev and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book In Vitro Fertilization written by Kay Elder and published by Cambridge University Press. This book was released on 2010-12-02 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Obstetric Hematology Manual written by Sue Pavord and published by Cambridge University Press. This book was released on 2018-02-08 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.
Download or read book Prenatal Diagnosis written by Lenore Abramsky and published by Springer. This book was released on 2013-11-11 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book evolved out of a conference which was held because of our conviction that prenatal screening and diagnostic techniques provide carers with a two-edged sword which can do both good and harm - often at the same time to the same person. The conference ('The Human Side of Prenatal Diagnosis') dealt with emotional, ethical and legal issues in prenatal screening and diagnosis. It took place in March 1992 at the Institute of Obstetrics and Gynaecology in London and was attended by obstetricians, paediatricians, geneticists, midwives and ultrasonographers from the North West Thames Health Region. The demand for places at the conference far exceeded the number of places avail able and many people who attended expressed the hope that we would be organizing similar conferences in the future. This confirmed our belief that we were not the only ones preoccupied with the human issues raised by the new technologies and encouraged us to work towards this publication. Prenatal diagnosis and the possibility of selective termination of affected pregnancies is part of a wider move towards repro ductive choice. Like contraception and assisted conception, it can make a major difference to the lives of some people. In our culture, we tend to view choice as a good thing. We look upon it as our right to choose our occupation, our partner, the place where we live, the books that we read and the way that we vote.
Download or read book Perinatal Genetics written by Mary E Norton and published by Elsevier Health Sciences. This book was released on 2019-01-23 with total page 207 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade 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. - Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. - Contains a chapter on fetal treatment of genetic disorders. - Consolidates today's available information and experience in this important area into one convenient resource.
Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.
Download or read book Practical Guide to Oral Exams in Obstetrics and Gynecology written by Görker Sel and published by Springer Nature. This book was released on 2019-11-13 with total page 319 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, based on non-interactive question-and-answer format, offers an essential guide for medical students who need to prepare for oral exams or clinical visits. Starting from specific clinical situations the volume provides clear questions on the theory related to the cases. Each question is followed by correct answers that summarize the main information. Suggested reading are included to deepen the topics and enhance the readers knowledge. Accordingly, this practical guide will help students get ready for their oral exams, and help prepare young residents for their first clinical cases.
Download or read book Handbook of Clinical Obstetrics written by E. Albert Reece, MD, PhD, MBA and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of this quick reference handbook for obstetricians and gynecologists and primary care physicians is designed to complement the parent textbook Clinical Obstetrics: The Fetus & Mother The third edition of Clinical Obstetrics: The Fetus & Mother is unique in that it gives in-depth attention to the two patients – fetus and mother, with special coverage of each patient. Clinical Obstetrics thoroughly reviews the biology, pathology, and clinical management of disorders affecting both the fetus and the mother. Clinical Obstetrics: The Fetus & Mother - Handbook provides the practising physician with succinct, clinically focused information in an easily retrievable format that facilitates diagnosis, evaluation, and treatment. When you need fast answers to specific questions, you can turn with confidence to this streamlined, updated reference.
