Prenatal Genetic Disease Diagnosis

Author: Lu Guohui, Editor-in-Chief
Publisher:
Publish Date: 2002-10-01
Features: This book is a specialized work that comprehensively and systematically introduces modern genetic pre-diagnosis, divided into three parts with a total of 22 chapters. Part I covers basic theories of medical genetics, including the human genome, Mendelian inheritance, mitochondrial genetics, and genetics of growth and development. Part II focuses on genetic diagnostic methodologies, including genetic screening, laboratory diagnostics (cytogenetics, molecular genetics, and bio-genetic diagnostics), risk calculation, and genetic counseling. Part III addresses clinical diseases, including common genetic diseases or congenital malformations encountered in prenatal diagnosis across major systems, as well as some diseases with clear genetic characteristics that are feasible for future prenatal diagnosis. The book systematically introduces the latest theories, diagnostic methods, and clinical applications of medical genetics both domestically and internationally. With a clinical emphasis and a focus on practicality, it primarily targets the needs of prenatal genetic diagnosis of common genetic diseases, especially in Guangdong, China. The book covers approximately 140 clinical conditions, classified by etiology, gene types, and mutation characteristics. Each condition includes information on etiology and pathogenesis, modes of inheritance, genetic counseling, and prenatal diagnostic methods. It fully incorporates the clinical experiences of domestic and international experts, striving to include the latest international prenatal diagnostic information that is suitable for China's current and future needs. Thus, the book serves as a comprehensive guide for prenatal genetic disease diagnosis. It holds significant practical value for the development of prenatal genetic diagnosis in China and further improving the work of eugenics. The book is suitable for clinical doctors and scientific workers in medical genetics, obstetrics and gynecology, and can be used as a teaching reference for relevant disciplines in medical schools. It is also available for healthcare workers in family planning and maternal and child health to study and reference.