Practical preimplantation genetic diagnosis

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. PGD is no longer an experimental procedure, having become an integral part of genetic practices and assisted reproduction technology. Therefore this practical book will be vital for clinicians to access a comprehensive description of available experience, indications, methods and clinical outcomes. Practical Preimplantation Genetic Diagnosis describes the experience of PGD, demonstrating the considerable progress made in this revolutionary procedure and describing its utility within different patient groups, the accuracy of the laboratory methods and prediction of the reproductive outcome. This will facilitate the use of PGD by practicing physicians, who may be able to offer patients this novel option for avoiding the birth of affected child and have a healthy children of their own. With the greatly improved accuracy of genetic analysis and indications expanding well beyond those for prenatal diagnosis, more than one thousand PGD cycles are now performed annually. PGD offers special features not available with traditional prenatal diagnosis. One is to avoid clinical pregnancy termination, which is especially attractive for couples carrying translocations, couples at risk for producing offspring with common diseases of autosomal dominant or recessive etiology, and for couples wishing to have not only an unaffected child, but an HLA compatible stem cell donor for treatment of an older moribund sib with a congenital disorder. Yet the greatest numerical impact of PGD is in assisted reproduction practices, where improved IVF efficiency through aneuploidy screening is evolving to become standard policy.

Primary Prevention of Genetic Disease and Place of Preimplantation DiagnosisApproaches to Preimplantation DiagnosisPreimplantation Diagnosis for single Gene DisordersPreimplantation HLA TypingPreimplantation Diagnosis for Chromosomal DisordersClinical Outcomes following Preimplantation DiagnosisPreimplantation Diagnosis and Establishment of Embryonic Stem Cell LinesEthica. Social and Legal Issues

Fertility physicians, embryologists, medical geneticists/counsellors, cytologists.