Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?

Cystic fibrosis carrier screening.

Carrier screening for cystic fibrosis (CF) has been available since the early 1990s, yet there are few programs, and none funded as part of a national health care strategy. The aim of this paper is to provide a description of carrier screening for CF and examine the progress that has been made towards the establishment of universal population-based carrier screening programs. This is an evidenc...

Direct marketing of cystic fibrosis carrier screening: commercial push or population need?

Newborn screening and carrier screening for cystic fibrosis: alternative or complementary?

The last decade has seen the increasing application of two models of screening related to CF, newborn screening and community-wide carrier screening (carrier screening) [2, 3]. Newborn screening for CF has now been implemented in the majority of countries where CF is common, including North America, Australia and several parts of Europe [3]. Virtually all babies born in these places will have b...

Implications of carrier identification in newborn screening for cystic fibrosis.

OBJECTIVE To investigate the psychosocial implications for families whose infant was identified as a cystic fibrosis carrier by newborn screening. DESIGN Prospective psychosocial assessment. SETTING Primary care. RESPONDENTS STUDY (a) families of an affected infant identified by screening (n = 9); (b) families of a carrier infant identified by screening (n = 10). CONTROL group of mot...

Carrier screening for cystic fibrosis: costs and clinical outcomes.

OBJECTIVES To evaluate the costs and clinical effects of 16 alternative strategies for cystic fibrosis (CF) carrier screening in the reproductive setting; and to test the sensitivity of the results to assumptions about cost and detection rate, stakeholder perspective, DNA test specificity, chance of nonpaternity, and couples' reproductive plans. METHOD Cost-effectiveness analysis. RESULTS A...