Prenatal Diagnostic Testing For Genetic Disorders

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.82/5 ( download)

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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.

Author : Kate C. Arnold
Publisher : Springer
ISBN 13 : 3319576755
Total Pages : 555 pages
Book Rating : 4.56/5 ( download)

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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.

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.59/5 ( download)

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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.

Author : Brynn Levy
Publisher : Humana
ISBN 13 : 9781493988877
Total Pages : 0 pages
Book Rating : 4.75/5 ( download)

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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.

Author : Mary E Norton
Publisher : Elsevier Health Sciences
ISBN 13 : 0323530966
Total Pages : 350 pages
Book Rating : 4.65/5 ( download)

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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.

Author : Gian Carlo Di Renzo
Publisher : Springer Nature
ISBN 13 : 3031317580
Total Pages : 455 pages
Book Rating : 4.83/5 ( download)

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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.

Author : Lieve Page-Christiaens
Publisher : Academic Press
ISBN 13 : 0128141905
Total Pages : 408 pages
Book Rating : 4.08/5 ( download)

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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 : Elena O. Nightingale
Publisher : Harvard University Press
ISBN 13 : 9780674063907
Total Pages : 144 pages
Book Rating : 4.02/5 ( download)

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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.

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.95/5 ( download)

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Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Author : Mark D. Kilby
Publisher : Cambridge University Press
ISBN 13 : 1108597645
Total Pages : 623 pages
Book Rating : 4.47/5 ( download)

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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.