Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.

Alphabetical articles provide information on genetic disorders, including conditions, tests, procedures, treatments, and therapies.

Provides an overview of birth defects, discusses the impact of genetics, disease, chemicals, and radiation, and describes procedures for prenatal detection and treatment

Presents nearly four hundred articles describing genetic disorders, conditions, tests, and treatments, including high-profile diseases such as Alzheimer's, breast cancer, and heart disease.

This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science. Encyclopedia of Human Genetics and Disease features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as "Genetics 101," the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.

Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.