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Fully revised and updated with the most current information, the third edition of this practical clinical text covers all aspects of the rapidly advancing field of preimplantation genetic testing (PGT). Although PGT has become an established procedure for genetics and assisted reproduction practices over the last decade, its wider application has occurred after the introduction of next generation technologies in the last few years, necessitating this much-needed new edition. This will include, first of all, an update on PGT accuracy, reliability and safety, to ensure improved access to PGT for those who may benefit greatly from this technology. New content will also present progress in the primary prevention of genetic disorders, which now discusses approaches for prospective identification of at-risk PGT couples through the application of the extended gene testing panels. In fact, because of dramatic technological improvements in all aspects of PGT, most of the sections have been updated, with the addition of new sections on next generation technologies and universal PGT with combined testing for single gene and chromosomal disorders, which has previously presented a challenge. The guiding PGT strategies for different genetic disorders are presented, with emphasis on the most complicated cases that might be of special utility in the wider application PGT technologies worldwide. Additionally, a new section will be devoted to borderline indications, which will include common adult-onset conditions with genetic predisposition and non-genetic indications, expanding PGT applications to heart disease and cancer and the use of PGT for stem cell transplantation treatment of genetic and acquired disorders, where unique outcome data has become available. Combining the latest research and the most cutting-edge practice, Practical Preimplantation Genetic Testing, 3e is an excellent resource for clinical reproductive medicine specialists, genetic counselors, researchers and analysts.
Reproductive medicine. --- Human genetics. --- Reproductive Medicine. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Human reproduction --- Human reproductive health --- Human reproductive medicine --- Reproductive medicine --- Health --- Health aspects --- Preimplantation genetic diagnosis. --- Preembryo diagnosis --- Preimplantation diagnosis --- Prenatal diagnosis
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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.
Medicine & Public Health. --- Obstetrics/Perinatology. --- Endocrinology. --- Clinical Psychology. --- Medicine. --- Obstetrics. --- Psychology, clinical. --- Médecine --- Obstétrique --- Endocrinologie --- Gynecology & Obstetrics --- Medicine --- Health & Biological Sciences --- Preimplantation genetic diagnosis. --- Preembryo diagnosis --- Preimplantation diagnosis --- Clinical psychology. --- Prenatal diagnosis --- Obstetrics/Perinatology/Midwifery. --- Maternal-fetal medicine --- Internal medicine --- Hormones --- Endocrinology . --- Psychiatry --- Psychology, Applied --- Psychological tests
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Richly illustrated and comprehensive in scope, Obstetric Imaging, 2nd Edition, provides up-to-date, authoritative guidelines for more than 200 obstetric conditions and procedures, keeping you at the forefront of this fast-changing field. This highly regarded reference covers the extensive and ongoing advances in maternal and fetal imaging in a concise, newly streamlined format for quicker access to common and uncommon findings. Detailed, expert guidance, accompanied by superb, high-quality images, helps you make the most of new technologies and advances in obstetric imaging. -- Publisher
Congenital Abnormalities --- Fetus --- Prenatal Diagnosis. --- diagnostic imaging. --- abnormalities. --- 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
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Prenatal diagnosis. --- Genetic counseling. --- Health counseling --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- Prenatal Diagnosis --- Genetic Counseling --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Eugenics --- Directive Counseling --- 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
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Are new reproductive and genetic technologies racing ahead of a society that is unable to establish limits to their use? Have the "new genetics" outpaced our ability to control their future applications? This book examines the case of preimplantation genetic diagnosis (PGD), the procedure used to prevent serious genetic disease by embryo selection, and the so-called "designer baby" method. Using detailed empirical evidence, the authors show that far from being a runaway technology, the regulation of PGD over the past fifteen years provides an example of precaution and restraint, as well as continual adaptation to changing social circumstances. Through interviews, media and policy analysis, and participant observation at two PGD centers in the United Kingdom, Born and Made provides an in-depth sociological examination of the competing moral obligations that define the experience of PGD. Among the many novel findings of this pathbreaking ethnography of reproductive biomedicine is the prominence of uncertainty and ambivalence among PGD patients and professionals--a finding characteristic of the emerging "biosociety," in which scientific progress is inherently paradoxical and contradictory. In contrast to much of the speculative futurology that defines this field, Born and Made provides a timely and revealing case study of the on-the-ground decision-making that shapes technological assistance to human heredity.
Genetic diseases, Inborn -- Diagnosis -- Great Britain. --- Preimplantation diagnosis -- Ethics -- Great Britain. --- Preimplantation genetic diagnosis -- Moral and ethical aspects. --- Preimplantation genetic diagnosis -- Social aspects -- Great Britain. --- Preimplantation genetic diagnosis --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Morals --- Europe --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Diagnostic Techniques, Obstetrical and Gynecological --- Diagnostic Techniques and Procedures --- Psychology, Social --- Geographic Locations --- Diseases --- Behavior and Behavior Mechanisms --- Geographicals --- Psychiatry and Psychology --- Diagnosis --- Ethics --- Genetic Diseases, Inborn --- Great Britain --- Preimplantation Diagnosis --- Medicine --- Health & Biological Sciences --- Gynecology & Obstetrics --- Social aspects --- Moral and ethical aspects --- Moral and ethical aspects. --- ethics --- diagnosis --- Preembryo diagnosis --- Preimplantation diagnosis --- Diagnosis, Preimplantation Genetic --- Preimplantation Screening --- Diagnosis, Preimplantation --- Preimplantation Genetic Diagnosis --- Diagnoses, Preimplantation --- Diagnoses, Preimplantation Genetic --- Genetic Diagnoses, Preimplantation --- Genetic Diagnosis, Preimplantation --- Preimplantation Diagnoses --- Preimplantation Genetic Diagnoses --- Preimplantation Screenings --- Screening, Preimplantation --- Screenings, Preimplantation --- Genetic Testing --- Prenatal Diagnosis --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetics, Medical --- Prenatal diagnosis
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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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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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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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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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"Advances in several different areas of the biosciences are coming together in ways that will change human reproduction forever. Vast improvements in the speed, accuracy, and cost of sequencing the entire human genome greatly increases the genetic information prospective parents can learn about their possible children. Rapid progress in stem cell research makes it likely that in twenty years or so, we will be able to make eggs and sperm from the skin cells of people--mature people, old people, children, and even from cells from the dead or the never born. Combining the eggs and sperm will make embryos in a potentially limitless supply; using a technique called preimplantation genetic diagnosis (PGD), which has been in limited but safe use in people for over twenty-five years, a few cells can be plucked from those embryos and have their genomes entirely sequenced. The result, which the author calls "Easy PGD," will give parents (or others) unprecedented power to select embryos for transfer into wombs and eventual birth as babies, based their predictable genetic traits. Those traits will include early-onset and terrible diseases; other, later or lesser, disease risks; cosmetic traits, some behavioral traits; and, last but not least "boy or girl." This book describes the background science of Easy PGD, lays out its pathway to widespread acceptance and use, and explores some of the many ethical, legal, and social issues it will raise. One thing seems very clear: after Easy PGD, making babies will change forever--and so will humanity."--
Preimplantation genetic diagnosis. --- Preimplantation genetic diagnosis --- Human reproduction. --- Preimplantation Diagnosis --- Reproductive Medicine --- Genetic Testing --- Reproduction --- 618.3 --- Human Reproductive Index --- Human Reproductive Indexes --- Reproductive Period --- Human Reproductive Indices --- Index, Human Reproductive --- Indexes, Human Reproductive --- Indices, Human Reproductive --- Period, Reproductive --- Periods, Reproductive --- Reproductive Index, Human --- Reproductive Indices, Human --- Reproductive Periods --- 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 --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Human physiology --- Reproductive health --- Reproductive rights --- Preembryo diagnosis --- Preimplantation diagnosis --- Prenatal diagnosis --- Moral and ethical aspects. --- ethics --- trends --- pathologie van de zwangerschap --- diagnosis --- Human reproduction --- Moral and ethical aspects --- Human reproductive technology --- Genetic engineering. --- Beroepsethiek. Deontologie --- Medisch recht --- Menselijke genetica --- Diagnostic préimplantatoire. --- Diagnostic préimplantatoire --- Reproduction humaine --- Aspect moral. --- Reproductive technology --- Techniques artificielles de la reproduction --- Law and legislation --- Droit --- Professional ethics. Deontology --- Medical law --- Human genetics --- Preimplantation genetic diagnosis - Moral and ethical aspects
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