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Although treatment is the major goal in the control of genetic disease, this is not yet a reality for most of inherited conditions. Even with the dramatic advancement in field of gene therapy, there are unfortunately not enough success stories to allow us to predict its impact in the near future. Preimplantation genetic diagnosis (PGD) offers the answer to the control of these inherited conditions by predicting reproductive outcome. It is no longer an experimental procedure, having become an integral part of genetic practices and assisted reproduction technology. This practical book is a vital new addition to the literature for fertility clinicians providing a comprehensive description of available experience, indications, methods and clinical outcomes. The authors of this book, from the Reproductive Genetics Institute in Chicago, USA, are among the leaders in this break-through field. Within this book, they instruct readers of the core features of the practice of PGD, while also providing incredibly detailed instructions of the genetics of a wide variety of common and not so common disorders that can be identified with the technique. This thorough and illuminating coverage ensures that this is the definitive reference book for those fertility specialists wishing to set up or already run a PGD clinic.
Preimplantation genetic diagnosis. --- Prenatal diagnosis. --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- Preembryo diagnosis --- Preimplantation diagnosis --- Prenatal diagnosis --- Reproductive Medicine. --- Human genetics. --- Obstetrics. --- Gynecology. --- Medical laboratories. --- Human Genetics. --- Obstetrics/Perinatology/Midwifery. --- Laboratory Medicine. --- Diagnosis, Laboratory --- Health facilities --- Laboratories --- Gynaecology --- Medicine --- Generative organs, Female --- Maternal-fetal medicine --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Human reproduction --- Human reproductive health --- Human reproductive medicine --- Reproductive medicine --- Health --- Diseases --- Health aspects --- Reproductive medicine. --- Gynecology . --- Laboratory medicine. --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Pathology
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Fetal Diseases --- Pregnancy Complications --- Prenatal Diagnosis --- Obstetrics --- Perinatology --- Fetal Diseases. --- Pregnancy Complications. --- Prenatal Diagnosis. --- Medicine, Perinatal --- Perinatal medicine --- Pediatrics --- Maternal-fetal medicine --- Medicine --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Complications, Pregnancy --- Complication, Pregnancy --- Pregnancy Complication --- Pregnancy --- Pregnancy, High-Risk --- Embryopathies --- Disease, Fetal --- Diseases, Fetal --- Embryopathy --- Fetal Disease --- complications --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal
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PRENATAL DIAGNOSIS --- FETAL DISEASES --- Fetal Diseases. --- Prenatal Diagnosis. --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Embryopathies --- Disease, Fetal --- Diseases, Fetal --- Embryopathy --- Fetal Disease --- Perinatology --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal --- Fetal Diseases --- Prenatal Diagnosis
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Prenatal diagnosis --- Fetus --- Prenatal diagnosis. --- Diseases --- Diagnosis --- Diagnosis. --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Foetus --- Unborn child --- Obstetrics --- Embryology --- Reproduction --- Prenatal Diagnosis. --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal
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Addresses ethical issues such as: the effects of the technicalization of reproduction; the moral status of the embryo; the validity of protecting the human genome; the concept of disease in genetic diagnosis and therapy and aspects of distributive justice. (Ashgate) This is the second edited volume from the European Network for Biomedical Ethics. It deals with interdisciplinary approaches to pre-implantation diagnosis (PID) and germline gene therapy across the fields of medicine, human genetics, philosophy, theology and social science. It addresses ethical issues such as: the effects of the technicalisation of reproduction; the moral status of the embryo; the validity of protecting the human genome; the concept of dissease in genetic diagnosis and therapy; and aspects of distributive justice.
Human reproductive technology --- -Preimplantation genetic diagnosis --- -#GBIB:CBMER --- reproductieve technologie (voortplantingstechnologie, medisch begeleide voortplanting, MBV, artificiële voortplanting, kunstmatige voortplanting) --- genetica (genen) --- Preembryo diagnosis --- Preimplantation diagnosis --- Prenatal diagnosis --- Assisted human reproduction --- Assisted conception --- Conception --- Human assisted reproduction --- Human reproduction --- Medical technology --- Reproductive technology --- Moral and ethical aspects --- technique de reproduction (technique de procréation, procréation médicalement assistée, PMA, procréation artificielle) --- génétique (gènes) --- Technological innovations --- Preimplantation genetic diagnosis --- #GBIB:CBMER --- Assisted human reproductive technology --- Human assisted reproductive technology --- Preimplantation genetic diagnosis - Moral and ethical aspects - Congresses --- Human reproductive technology - Moral and ethical aspects - Congresses
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Although treatment remains the major goal in the control of genetic disease, this is not yet a reality for most inherited conditions. In the absence of radical treatment, preimplantation genetic diagnosis (PGD) offers the answer to the control of these inherited conditions by predicting reproductive outcome. PGD is now entering its third decade as an established procedure for genetic and assisted reproduction practices, with new and exciting developments changing the whole concept of prevention of congenital disorders. The availability of practical experience from tens of thousands of PGD cases makes it necessary to update the current information on its accuracy, reliability and safety. The Second Edition of this successful book updates the progress in prevention of genetic disorders to demonstrate the important place of PGD in primary preventive measures and its increasing role in providing the whole range of reproduction options to couples at risk. In addition, it provides an extensive review of the most recent developments within the field of PGD including, PGD for expanding indications, such as de novo mutations, cancers, inherited cardiac diseases and combined PGD for single gene disorders, HLA typing and 24 chromosome testing in patients of advance reproductive age. This practical book is vital for all practitioners within the field of fertility, reproductive medicine and medical genetics. It will also be useful for those responsible for planning and organizing PGD services and provides a working manual for the establishment and performance of PGD in the framework of IVF and genetic practices. .
Preimplantation genetic diagnosis. --- Human reproductive technology --- Assisted human reproduction --- Assisted conception --- Conception --- Human assisted reproduction --- Human reproduction --- Preembryo diagnosis --- Preimplantation diagnosis --- Technological innovations --- Medicine. --- Human genetics. --- Laboratory medicine. --- Gynecology. --- Obstetrics. --- Reproductive medicine. --- Medicine & Public Health. --- Reproductive Medicine. --- Human Genetics. --- Obstetrics/Perinatology. --- Laboratory Medicine. --- Medical technology --- Reproductive technology --- Prenatal diagnosis --- Medical laboratories. --- Obstetrics/Perinatology/Midwifery. --- Diagnosis, Laboratory --- Health facilities --- Laboratories --- Gynaecology --- Medicine --- Generative organs, Female --- Maternal-fetal medicine --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Human reproductive health --- Human reproductive medicine --- Reproductive medicine --- Health --- Diseases --- Health aspects --- Gynecology . --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Diagnosis --- Pathology
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Depuis quelques années, un débat virulent se développe autour de questions relevant de la bioéthique, des techniques de procréation et du diagnostic des maladies génétiques. L'eugénisme constitue l'un des éléments récurrents, et fondamentaux, de ce dialogue complexe entre les sciences exactes, la médecine, le droit et l'éthique. Néanmoins, si l'on entend prononcer nombre de mots savants, mais également une profusion de jugements moraux et de discours catastrophistes, il est difficile pour le grand public de savoir de quoi on parle : qu'est-ce précisément que l'eugénisme ? Comment définir d'une manière claire et univoque cette démarche qui désigne étymologiquement « l'amélioration de l'humanité dans ses caractères transmissibles aux générations suivantes » ? C'est à ce sujet peu connu, qui évoque pour nos contemporains les méthodes de la barbarie nazie mais concerne en fait toute la société, que cet ouvrage consacre une étude extrêmement complète, riche d'arguments historiques, juridiques, philosophiques et scientifiques.
Political Systems --- Genetics --- Medicine --- Sterilization, Reproductive --- Diagnostic Techniques, Obstetrical and Gynecological --- Genetic Techniques --- Persons --- History --- Reproductive Techniques --- Abortion, Induced --- Social Sciences --- Health Occupations --- Named Groups --- Urogenital Surgical Procedures --- Obstetric Surgical Procedures --- Diagnostic Techniques and Procedures --- Investigative Techniques --- Biology --- Humanities --- Therapeutics --- Diagnosis --- Biological Science Disciplines --- Anthropology, Education, Sociology and Social Phenomena --- Surgical Procedures, Operative --- Disciplines and Occupations --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Natural Science Disciplines --- Abortion, Eugenic --- Preimplantation Diagnosis --- Prenatal Diagnosis --- National Socialism --- Genetic Engineering --- Reproductive Techniques, Assisted --- Disabled Persons --- Eugenics --- Sterilization, Involuntary --- Genetics, Medical --- Law, Politics & Government --- Law, General & Comparative
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Prenatal Diagnosis. --- 241.63*5 --- ROLDUC-SEMI --- #GROL:SEMI-241.63*2 --- #GBIB:IDGP --- #GGSB: Bio-ethiek --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Fetal --- Screening, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- 241.63*5 Theologische ethiek: bio-ethiek (bioethiek); genetische experimenten; transplantatie; eugenetica --- Theologische ethiek: bio-ethiek (bioethiek); genetische experimenten; transplantatie; eugenetica --- Professional ethics. Deontology --- Gynaecology. Obstetrics --- Prenatal Diagnosis --- Bio-ethiek
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Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential d
Genetic disorders. --- Symptoms --- Child. --- Genetic Diseases, Inborn --- Diagnosis, Differential. --- Genetic Testing. --- Signs and Symptoms. --- Symptoms and Signs --- Genetic Screening --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Genetic Predisposition to Disease --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Diagnoses, Differential --- Differential Diagnoses --- Differential Diagnosis --- Children --- Minors --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- diagnosis. --- diagnosis
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"Long recognized as the authoritative leader in the field, Creasy and Resnik's Maternal-Fetal Medicine, 8th Edition, continues to provide the latest evidence-based guidelines for obstetric and neonatal management, helping you minimize complications and offer patients the best possible care. Written by renowned experts in obstetrics, gynecology, and perinatology, this comprehensive resource has been thoroughly updated and reflects new information in every area, including recent tremendous advances in genetics, imaging, and more"--Publisher's description.
Fetal Diseases --- Fetus --- Pregnancy --- Pregnancy Complications --- Prenatal Diagnosis --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Fetal --- Screening, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Complications, Pregnancy --- Complication, Pregnancy --- Pregnancy Complication --- Obstetrics --- Perinatology --- Pregnancy, High-Risk --- Embryopathies --- Disease, Fetal --- Diseases, Fetal --- Embryopathy --- Fetal Disease --- physiology --- complications --- Fetus - physiology --- Pregnancy - physiology