Atlas Of Preimplantation Genetic Diagnosis

Based on one leading center's experience with over 100,000 cases, the new edition of this extensively illustrated atlas provides a detailed manual for procedures and techniques in preimplantation genetic diagnosis. New topics in this edition include de novo mutations, diseases with genetic predisposition, and HLA typing. The book provides insight f

Extensively illustrated, this atlas is a manual for the establishment and realization of PGD within the framework of assisted reproduction and genetics services. Fully revised and updated, the atlas includes descriptions of the authors' pioneering work on polar body based PGD for genetic and chromosomal disorders. The authors' novel experience of PGD for late-onset disorders with genetic predisposition will be of special interest. Their accumulated PGD experience for poor-prognosis IVF patients presents further evidence of the improvement of clinical outcome and the requirement for meiotic error testing for a higher accuracy of preselecting aneuploidy-free embryos for transfer.

Based on one leading center s experience with over 100,000 cases, the new edition of this extensively illustrated atlas provides a detailed manual for procedures and techniques in preimplantation genetic diagnosis. New topics in this edition include "de novo" mutations, diseases with genetic predisposition, and HLA typing. The book provides insight from authors who are pioneers in some of the procedures described."

Preimplantation genetic testing (PGT) is now well established as a valuable treatment option for patients wishing to start or continue a family, for a range of indications from advanced maternal age to high risk of transmitting inherited disease. This text brings together contemporary thinking from international opinion leaders and will be an invaluable guide for practitioners in Reproductive Medicine wishing to keep pace with the latest developments and clinical data.

Featuring more than 300 full-color photographs, this atlas is a comprehensive guide to the complex procedures used in assisted reproduction. It shows readers how to utilize the latest technologies and correlates the laboratory and clinical components of assisted reproduction. The book depicts oocytes, embryos, and blastocysts at various stages of division and offers guidelines for assessing oocytes and embryos. The authors give detailed instructions on ovarian stimulation, intracytoplasmic sperm injection, assisted hatching, cryopreservation, extended in vitro culturing, preimplantation genetic diagnosis, and embryo transfer techniques. Close attention is also given to assessment of oocytes and embryos from patients with endometriosis and other pathologies.

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.

Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.

The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.