Genetic Disorders And The Fetus

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
Page : 910 pages
File Size : 55,5 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781468451559

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Genetic Disorders and the Fetus by Aubrey Milunsky Pdf

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 : Aubrey Milunsky,Jeff M. Milunsky
Publisher : John Wiley & Sons
Page : 1494 pages
File Size : 54,7 Mb
Release : 2011-09-07
Category : Medical
ISBN : 9781444358216

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Genetic Disorders and the Fetus by Aubrey Milunsky,Jeff M. Milunsky Pdf

Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.

Author : Aubrey Milunsky,Jeff M. Milunsky
Publisher : John Wiley & Sons
Page : 1216 pages
File Size : 42,5 Mb
Release : 2015-09-21
Category : Medical
ISBN : 9781118981542

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Genetic Disorders and the Fetus by Aubrey Milunsky,Jeff M. Milunsky Pdf

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.

Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
Publisher : Lulu.com
Page : 104 pages
File Size : 46,8 Mb
Release : 2009
Category : Biology
ISBN : 9780982162217

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Understanding Genetics by Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services Pdf

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.

Author : Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
Publisher : Elsevier Health Sciences
Page : 350 pages
File Size : 41,7 Mb
Release : 2019-01-23
Category : Medical
ISBN : 9780323530965

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Perinatal Genetics by Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff Pdf

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 : J. S. Fitzsimmons
Publisher : Butterworth-Heinemann
Page : 168 pages
File Size : 54,6 Mb
Release : 2013-10-22
Category : Health & Fitness
ISBN : 9781483140988

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A Handbook of Clinical Genetics by J. S. Fitzsimmons Pdf

A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.

Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Page : 353 pages
File Size : 40,6 Mb
Release : 1994-01-01
Category : Medical
ISBN : 9780309047982

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Assessing Genetic Risks by Institute of Medicine,Committee on Assessing Genetic Risks Pdf

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 : Aubrey Milunsky
Publisher : Unknown
Page : 704 pages
File Size : 45,7 Mb
Release : 1979
Category : Electronic
ISBN : OCLC:164915104

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Genetic Disorders and the Fetus by Aubrey Milunsky Pdf

Author : T.V.N. Persaud
Publisher : Springer Science & Business Media
Page : 257 pages
File Size : 50,8 Mb
Release : 2012-12-06
Category : Science
ISBN : 9789401166690

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Genetic Disorders, Syndromology and Prenatal Diagnosis by T.V.N. Persaud Pdf

Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.

Author : Elena O. Nightingale,Melissa Goodman
Publisher : Harvard University Press
Page : 144 pages
File Size : 52,9 Mb
Release : 1990
Category : Bioethics
ISBN : 0674063902

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Before Birth by Elena O. Nightingale,Melissa Goodman Pdf

'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 : Joseph D. Schulman,Joe Leigh Simpson
Publisher : Unknown
Page : 566 pages
File Size : 41,7 Mb
Release : 1981
Category : Genetic disorders in pregnancy
ISBN : UOM:39015000785264

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Genetic Diseases in Pregnancy by Joseph D. Schulman,Joe Leigh Simpson Pdf

Author : Lieve Page-Christiaens,Hanns-Georg Klein
Publisher : Academic Press
Page : 408 pages
File Size : 54,5 Mb
Release : 2018-08-19
Category : Medical
ISBN : 9780128141908

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Noninvasive Prenatal Testing (NIPT) by Lieve Page-Christiaens,Hanns-Georg Klein Pdf

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 : Henk ten Have,Maria do Céu Patrão Neves
Publisher : Springer Nature
Page : 1063 pages
File Size : 46,9 Mb
Release : 2021-05-26
Category : Philosophy
ISBN : 9783030541613

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Dictionary of Global Bioethics by Henk ten Have,Maria do Céu Patrão Neves Pdf

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.

Author : Muntaser E. Ibrahim,Charles N. Rotimi
Publisher : Cambridge University Press
Page : 351 pages
File Size : 49,6 Mb
Release : 2019-12-19
Category : History
ISBN : 9781107072022

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The Genetics of African Populations in Health and Disease by Muntaser E. Ibrahim,Charles N. Rotimi Pdf

A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.

Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 44,6 Mb
Release : 2021-01-27
Category : Science
ISBN : 9781119432678

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Cassidy and Allanson's Management of Genetic Syndromes by John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil Pdf

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.