Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

Liane Ioannou, Belinda McClaren, John Massie, Sharon Lewis, Sylvia Ann Metcalfe, Laura E Forrest, Martin Delatycki

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54 Citations (Scopus)


Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence of 1 in 2,500-3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans. Population-based carrier screening for cystic fibrosis has been possible since CFTR, the disease-causing gene, was identified in 1989. This review provides a systematic evaluation of the literature from the past 23 years on population-based carrier screening for cystic fibrosis, focusing on the following: uptake of testing; how to offer screening; attitudes, opinions, and knowledge; factors influencing decision making; and follow-up after screening. Recommendations are given for the implementation and evaluation of future carrier-screening programs.
Original languageEnglish
Pages (from-to)207 - 216
Number of pages10
JournalGenetics in Medicine
Issue number3
Publication statusPublished - 2014

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