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Doody's Review ServiceReviewer: Vivienne Souter, MD (Good Samaritan Regional Medical Center)
Description: Last published in 1992, this new edition is a succinct overview of the current, major genetic issues in obstetrics and gynecology. In fewer than 500 pages, this book covers basic genetics principles, recurrent pregnancy loss, disorders of sex differentiation, gynecological oncology, and prenatal screening and diagnosis, among other topics.
Purpose: The book aims to summarize the far-reaching advances that have been made over the past 10 years as they relate to obstetrics and gynecology, and to prepare readers for the shape of things to come in the future. The authors have taken on this important and daunting task with simplicity and pragmatism. They have successfully achieved their goals and produced a book that is clear, extremely readable, and readily accessible to a wide audience.
Audience: Written principally for obstetricians and gynecologists, this book would be a valuable addition to the bookshelves of a much wider audience. This includes genetic counselors, geneticists and perinatologists, and obstetric nurses and midwives involved in prenatal care.
Features: Unlike many genetics books, this one is relatively short, which gives the reader a fighting chance to come to grips with the principles while avoiding information overload. The book covers basic principles in genetics clearly and concisely with the help of plentiful figures, images, and tables. It then moves on to more specific issues such as disorders of sex differentiation and a small selection of Mendelian conditions. The genetics of pregnancy loss is covered in depth while gynecological oncology is addressed in less detail. Where the book really comes into its own is in its coverage of prenatal screening and diagnosis. It contains clear explanations of the use of second trimester maternal biochemical screening tests (i.e., alphafetoprotein, the triple test and inhibin), first trimester screening for Down syndrome, and preimplantation genetic diagnosis. There are easily understandable descriptions of subjects such as confined placental mosaicism, uniparental disomy, and the quest for noninvasive means of prenatal diagnosis (i.e., fetal cells and free DNA in the maternal circulation). The book concludes with a thoughtful and practical chapter on the ethics and legal aspects of genetics.
Assessment: Although almost all of the information could be obtained from much larger genetics books, this one is relatively unique in terms of the focus of its subject matter and, as a result, is a much more cost-effective investment for those seeking a book specific to obstetrics and gynecology. In addition, the authors bring their own practical experience and perspective to many of the issues while still being quick to point out areas of controversy and the existence of other opinions. The book does not pretend to be a comprehensive text and it does not substitute for other sources of information on complex genetic problems and rare conditions, but this is not a criticism, just a fact readers should be aware of when using this book. An appendix listing some other sources of genetic information, particularly those available on the Internet, would have been a helpful addition. Overall, I found this edition informative, easy to read, and, importantly, up-to-date. I would recommend it to anyone working in this area, particularly those in prenatal screening and diagnosis.