Screening for cystic fibrosis.

Abstract

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Newborn screening for CF in a regional paediatric centre: The psychosocial effects of false-positive IRT results on parents

“…Parents in this study described wide-ranging and often strong, emotional reactions to receiving such a result and stated the importance of accurate and empathic communication and consistent information-giving in order to minimise psychological distress; findings which echo previous hypotheses [20][21][22].…”

“…Cumulative world-wide experience of neonatal screening for CF seems to be 'tipping the balance of opinion' towards initiating programmes where none exist [1,5,6,7,20]. As a consequence, newborn screening protocols for CF are being introduced throughout the world.…”

Early intervention and prevention of lung disease in cystic fibrosis: a European consensus

“…The goal of heterozygote screening is to provide carrier couples with the information that allows them to make an informed choice in family planning [7]. The ultimate goal of CF carrier screening is to reduce the number of CF births on a population level.…”

“…The effects of neonatal screening on clinical outcome are more cumbersome to assess [7]. A blinded, prospective and randomized study [18,19] demonstrated that early recognition of the disease has nutritional benefits in the first years of life, at the time when growth is most rapid.…”

Genetic screening for cystic fibrosis: An overview of the science and the economics

“…The prevalence of CF in populations of northern European origin is around 1 in 2500 [1]. In the UK, a much lower incidence of 1 in 12,000 births has been estimated for groups of Asian origin, and this figure is likely to be lower still among populations of Afro-Caribbean and Oriental origin [1].…”