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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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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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Preimplantation genetic diagnosis - Congresses.

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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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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.

Human genetics --- Gynaecology. Obstetrics --- medische genetica --- genetica --- gynaecologie