Preconception and Preimplantation Diagnosis of Human Genetic Disease

Edwards, Robert G. (ed.)

The advent of human in vitro fertilization and developments in molecular science have made it possible to diagnose genetic disease in fetuses at a very early stage of development. This book presents the most recent advances and developments in this new area of applied research. Experts in the field describe and discuss the latest technology, from micromanipulation of single cells to sophisticated methods of DNA analysis. The book considers the implications of this new technology for fetal screening and the prevention of genetic disease, as well as for the control and manipulation of the normal sex ratio. It draws together current knowledge and discusses the new clinical opportunities for disease prevention. The book begins with an overview of the genetics of some common inherited diseases and the historical development of prenatal screening. It then draws together the most recent advances in preimplantation diagnostic techniques, including tissue assays for specific genetic disorders, and methods for typing and separating spermatozoa. The practical aspects of the new methodologies are considered, along with the potential for developing safer, more reliable and less invasive methods of diagnosis. The ethical and legal implications of this diagnostic approach are also discussed.

Contributors: History and opportunities of preimplantation diagnosis, R.G. Edwards & J.D. Schulman/ Metabolism of human preimplantation embryos, J. Tesarik/ The scope of preimplantation diagnosis, R. Penketh/ Genetics of some common inherited diseases, J.D. Schulman & S.H. Black/ A brief history of prenatal diagnosis, Y. Verlinsky & N. Ginsberg/ The current status of chorionic villus sampling, E. Pergament & B. Fine/ Analysis of genetic variation in the single cell, D.R. Bentley, F.N. Norwood, C. Holding, R.G. Roberts & M. Bobrow/ The direct diagnosis of genetic defects, D.R. Bentley/ Can spermatozoa be typed?, B.L. Gledhill & R.G. Edwards/ Preconception diagnosis of polar bodies, Y. Verlinsky & C.M. Strom/ Cleavage stage biopsy of human embryos and diagnosis of X-linked recessive disease, A.H. Handyside & J.D.A. Delhanty/ Micromanipulation of blastocysts for the diagnosis of genetic disease, G.M. Hartshorne, R.L. Gardner & R.G. Edwards/ The potential for preimplantation diagnosis by non-invasive or semi-invasive methods, H.J. Leese & R.G. Edwards/ Ethics and law of the diagnosis of human genetic disease, D. Brahams

Subject: medicine

1993        7 3/8 X 9 3/4        352 pp.        1 color plate 23 halftones 19 line diagrams 19 tables

Hardback        0-521-40425-8        $110.00