From the leaders in the field comes this new and completely up-to-date practical manual of the technique of preimplantation genetic diagnosis. Vital for all practitioners within the field of fertility and reproductive medicine and medical genetics, this will be the leading reference resource for anyone with a practical interest in this most controversial of areas.

Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

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.

Yury Verlinskyand Anver Kuliev Reproductive Genetics Institute, Illinois Masonic Medical Center, 836 W. Wellington chicago, IL 60657 Although introduction of a first trimester prenatal diagnosis by chorionic viIIus sampling (CVS) has considerably improved the possibility for prevention of genetic diseases, it requires a selective abortion in case of an affected fetus. Following the direction of an earlier prenatal diagnosis and to avoid the need for abortion, preimplantation genetic diagnosis has been initiated based on polar body removal and pre-embryo biopsy. The First International symposium on Preimplantation Genetics, Chicago, September 17-19, 1990, was organized to explore these important developments, to review the state of knowledge in the field, and to address existing problems to be solved for developing and improving current approaches for preimplantation diagnosis of genetic disorders. A growing interest in the subject was obvious from the wide attendance of the meeting: over 250 scientists from 19 countries participated. This was the first attempt to put together the advances in different areas of basic and applied research relevant to Preimplantation Genetic Diagnosis, with the multidisciplinary scientific program including the sessions on embryology, micromanipulation and biopsy, genetic analysis of gametes and pre-embryos, IVF, gene expression and gene therapy, and ethical and legal issues. The deliberations of the Symposium presented in the above mentioned sessions, which comprise the contents of correspond ing sections of the Proceedings, open a newarea in medical research based on the interaction of IVF and New Genetics.

This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

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

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

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.

Assisted reproductive technologies (ART) include the artificial or partially artificial methods to achieve pregnancy. These new technologies lead to substantial changes regarding of ethical and legal aspects in reproductive medicine. The book focuses on current hot topics about ethical dilemmas in ART, e.g. about the duties of ethical committees, guidelines regarding informed consent, ethical and legal aspects of sperm donation, embryo donation, ethics of embryonic stem cells, therapeutical cloning, patenting of human genes, commercialization.

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! - Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work - Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles - Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient - Teaches the best strategies and most effective use of genetic information in the patient counseling setting