NEWBORN SCREENING FOR C.F.

建议召开新生儿囊性筛查国际会议

This proposed International Meeting on Newborn Screening for Cystic Fibrosis is designed to provide current information on neonatal screening for Cystic Fibrosis (CF) to physicians (pediatric pulmonologists, gastroenterologists, pathologists, geneticists), State Health Department laboratory personnel, nutritionists and clinical psychologists. Investigators from the United States and several other countries will be invited to present their clinical and laboratory experience in CF screening. Such a meeting is considered timely, since the recent discovery of the CF gene may provide a new technique for screening and diagnosis, and its potential for improving the neonatal screening process is under active investigation at several centers around the world. The gene discovery and its implications for neonatal screening will be a major focus of this meeting. The ethical issues surrounding newborn carrier detection will also be discussed. Another session will focus on quality control issues in newborn screening for CF, and experience with an international proficiency survey will be reviewed. The types of quality control programs that might need to be developed in the USA should mass screening be adopted will also be discussed. Clinical investigators will review early mechanisms of lung injury in CF, and current data regarding early pulmonary manifestations and interventions in screened infants. Early nutritional abnormalities, and their implications and response to early treatment will also be discussed. A session will be devoted to the psychosocial and ethical issues of false positive screening tests, and the impact of early diagnosis on the families of affected infants. This conference should be valuable to policy makers who wish to determine whether or not newborn screening for this disease should be widely implemented in the United States. The proceedings will be published as a supplement to "Pediatric Pulmonology".