Newborn disease screening

Author: Gu Xuefan
Publisher:
Publish Date: 2003-03-01
Features: This book is a comprehensive and systematic reference on the latest neonatal disease screening methods both domestically and internationally. The book is divided into four chapters. The first chapter is an introduction to neonatal disease screening, focusing on the history, current status, and development of neonatal disease screening, as well as the organizational management, laboratory quality assurance, and the fundamental theories and knowledge of applying tandem mass spectrometry technology to neonatal disease screening in recent years. The second chapter discusses the foundations of genetic disease diagnosis, explaining the clinical diagnosis, genetic diagnosis, prenatal diagnosis, genetic counseling, and prevention strategies for genetic metabolic diseases in infancy. The third chapter introduces the concepts, incidence rates, etiologies, genetic research, clinical diagnosis, and treatment of various screened diseases. The fourth chapter primarily covers the experimental techniques, methods, operational procedures, and practical experiences in neonatal disease screening. The appendix includes relevant policies and regulatory documents related to neonatal disease screening for reference. This book is the first specialized work on neonatal disease screening in China and can serve as a reference for clinical physicians and laboratory technicians in pediatrics, obstetrics, and genetics who are involved in neonatal disease screening.