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Prenatal Diagnostic Testing For Genetic Disorders
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Book Synopsis Understanding Genetics by : Genetic Alliance
Download or read book Understanding Genetics written by Genetic Alliance and published by Lulu.com. This book was released on 2009 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
Book Synopsis Assessing Genetic Risks by : Institute of 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.
Book Synopsis Obstetrics Essentials by : Kate C. Arnold
Download or read book Obstetrics Essentials written by Kate C. Arnold and published by Springer. This book was released on 2017-09-13 with total page 555 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a compact question-based review of the most critical topics an obstetrician will come across in practice. Each chapter includes 10-30 multiple-choice questions designed to test the readers understanding surrounding one obstetric topic. Based on all 45 obstetric based practice bulletins by ACOG, this text is designed to keep practitioners up-to-date with the latest evidence based medicine. Sample topics include: anemia in pregnancy, screening for fetal chromosomal abnormalities, and vaginal birth after previous cesarean delivery. This is an ideal tool for attendings and clerkship directors who frequently test residents and medical students during rounds and in the classroom. This review also proves useful for practicing physicians and physicians-in-training who want to self-evaluate their comprehension and study for board examinations.
Book Synopsis Perinatal Genetics by : Mary E Norton
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 350 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.
Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
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.
Book Synopsis Prenatal Diagnostic Testing for Genetic Disorders by : Gian Carlo Di Renzo
Download or read book Prenatal Diagnostic Testing for Genetic Disorders written by Gian Carlo Di Renzo and published by Springer Nature. This book was released on 2023-07-21 with total page 455 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis.
Book Synopsis Before Birth by : Elena O. Nightingale
Download or read book Before Birth written by Elena O. Nightingale and published by Harvard University Press. This book was released on 1990 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'An extremely informative, well-written and amply diagrammed book, which should be of great value to laypersons and their physicians who require further genetic review and background for present and future gene therapies.' - Theodore Kushnick, M.D., Journal of the American Medical Association.
Book Synopsis Dictionary of Global Bioethics by : Henk ten Have
Download or read book Dictionary of Global Bioethics written by Henk ten Have and published by Springer Nature. This book was released on 2021-05-26 with total page 1063 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Dictionary presents a broad range of topics relevant in present-day global bioethics. With more than 500 entries, this dictionary covers organizations working in the field of global bioethics, international documents concerning bioethics, personalities that have played a role in the development of global bioethics, as well as specific topics in the field.The book is not only useful for students and professionals in global health activities, but can also serve as a basic tool that explains relevant ethical notions and terms. The dictionary furthers the ideals of cosmopolitanism: solidarity, equality, respect for difference and concern with what human beings- and specifically patients - have in common, regardless of their backgrounds, hometowns, religions, gender, etc. Global problems such as pandemic diseases, disasters, lack of care and medication, homelessness and displacement call for global responses.This book demonstrates that a moral vision of global health is necessary and it helps to quickly understand the basic ideas of global bioethics.
Book Synopsis Women and Prenatal Testing by : Karen H. Rothenberg
Download or read book Women and Prenatal Testing written by Karen H. Rothenberg and published by Ohio State University Press. This book was released on 1994 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: "For pregnant women in the 1990s, technological developments have ushered in new and expanding reproductive genetic testing options. Some herald these procedures as advances providing women with previously unavailable information about their pregnancies. Others contend that with this surge of information come increasing and perhaps unwarranted obligations: while some women have greater knowledge about their pregnancies, they also face far more complex decisions and a greater pressure to do as much as is technologically possible to ensure the birth of a healthy child." "This book focuses on the major women's issues surrounding the development and application of reproductive genetic testing. Although much has been written about the biological safety and efficacy of these technologies, few publications have addressed their psychological, sociocultural, ethical, legal, and political impact on women and their experience of pregnancy." "The first of three sections provides the contextual framework in which the debate should be analyzed. The second section sets forth the philosophical foundations and complex ethical and legal questions that need to be addressed, and the final section delineates a variety of perspectives on the psychological and sociocultural issues raised by reproductive genetic testing. These fourteen essays on the cutting edge of the debate are essential reading for anyone interested in women's studies, human genetics, health law; and bioethics and prenatal care providers."--BOOK JACKET.Title Summary field provided by Blackwell North America, Inc. All Rights Reserved
Download or read book Fetal Therapy written by Mark D. Kilby and published by Cambridge University Press. This book was released on 2020-01-02 with total page 623 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated by a team of internationally renowned experts, this book gives a thorough overview of fetal pathophysiology and an evidence base for in utero: both medical (non-invasive) and surgical treatments. Many topics are expanded to cover recent advances, including: stem cell transplantation; tissue scaffolding; minimally invasive approaches to 'open fetal surgery'; the etiology, prevention and treatment of preterm birth and PROM; the genetic etiologies of fetal disease; and gene therapy. In addition, there are in-depth discussions as to the role of open fetal myelomeningocele repair and several fetoscopic approaches to therapy. The international editors have added important new chapters on reducing stillbirth and prenatal counselling. This book is an invaluable reference guide to the latest fetal therapy options, and an essential, in-depth study book for maternal-fetal and neonatology specialists.
Book Synopsis Noninvasive Prenatal Testing (NIPT) by : Lieve Page-Christiaens
Download or read book Noninvasive Prenatal Testing (NIPT) written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques
Author :Privacy Commissioner of Canada Publisher :Commissaire à la protection de la vie privée ISBN 13 : Total Pages :256 pages Book Rating :4.:/5 (31 download)
Book Synopsis Dépistage Génétique Et la Vie Privée by : Privacy Commissioner of Canada
Download or read book Dépistage Génétique Et la Vie Privée 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.
Book Synopsis Screening for Down's Syndrome by : J. G. Grudzinskas
Download or read book Screening for Down's Syndrome written by J. G. Grudzinskas and published by Cambridge University Press. This book was released on 1994-11-17 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
Book Synopsis Fetology: Diagnosis and Management of the Fetal Patient, Second Edition by : Diana Bianchi
Download or read book Fetology: Diagnosis and Management of the Fetal Patient, Second Edition written by Diana Bianchi and published by McGraw Hill Professional. This book was released on 2010-05-14 with total page 1056 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book to synthesize relevant, critically reviewed data for application to the diagnosis and treatment of prenatal patients— updated and in full color A Doody's Core Title for 2011! 5 STAR DOODY'S REVIEW! "The book is comprehensive, concise, well illustrated, and an extremely valuable resource for perinatal healthcare providers....This book has rapidly become a go-to reference in the perinatal field and this new edition confirms its place as the gold standard in the field. Perinatologists will find this to be an essential part of their library. As more obstetric practitioners do investigative sonographic procedures in their offices, this book will be a valuable resource for them as well. The new edition is overdue and most welcome."--Doody's Review Service "This invaluable up-to-date reference is a must have guide especially in non-tertiary care centers where the various experts may not be readily available to further guide the family and plan the rest of the antepartum, peripartum and postpartum care."--Center for Advanced Fetal Care Newsletter Fetology: Diagnosis and Management of the Fetal Patient offers a cross-disciplinary approach that goes beyond the traditional boundaries of obstetrics, pediatrics, and surgery to help you effectively diagnose and treat fetal patients. Fetology considers the full implications of a fetal sonographic or chromosomal diagnosis—from prenatal management to long-term outcome—for an affected child. Here, you’ll find all the insights you need to answer the questions of parents faced with a diagnosis of a fetal abnormality—and present them with a coordinated therapeutic plan. Features NEW! Full-color design NEW! Five new chapters on Adrenal Masses, Abdominal Cysts, Overgrowth, Mosaic Trisomy, and DiGeorge Syndrome NEW! Chapters summarizing contemporary approaches to first and second trimester screening for aneuploidy NEW! 3D ultrasound and MRI images: over 450 images clearly illustrate the diagnosis of anomalies with the latest, most precise imaging technology NEW! Key Points open each chapter, providing rapid review of a particular condition Highlighted treatment/management guidelines deliver quick access to practical, what-to-do information Each chapter, which covers a single anomaly, includes description of the medical condition, incidence, characteristic sonographic findings, differential diagnosis, best treatment during pregnancy, treatment of the newborn, expected outcome, and more Addresses gaps in our knowledge that highlight unmet clinical needs and areas for future research
Book Synopsis Protocols for High-risk Pregnancies by : John T. Queenan
Download or read book Protocols for High-risk Pregnancies written by John T. Queenan and published by . This book was released on 1982 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2015-09-21 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
