International experience in the primary prevention of cystic fibrosis (part two)

Abstract

This text is a continuation of a review of international studies and guidelines/recommendations for primary prevention of cystic fibrosis (CF). This section reviews the selection of pathogenic variants for different CF mutation carrier screening programmes to form panels, taking into account the geographical and ethnic characteristics of the couples being screened, describes the monitoring of couples at intermediate risk of carrier, presents the relationship between carrier screening and neonatal screening, highlights the importance of timely information, including medical and genetic counselling for stakeholders, taking into account the psychosocial status. Separately, we present studies that have found a reduction in the rate of CF births in France, Italy and Israel after the introduction of CF carrier screening.