Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria
نویسندگان
چکیده
منابع مشابه
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...
متن کاملImplications 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...
متن کاملCarrier 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...
متن کاملScreening for cystic fibrosis.
Neonatal screening for cystic fibrosis (CF) reduces short-term morbidity but its long term effects remain to be demonstrated. The best available method is the assay of immunoreactive trypsin in dried blood spots, and specificity can be improved by adding direct or indirect genetic analysis. Pregnancies known to be at risk of CF can also be screened by molecular methods, and affected pregnancies...
متن کاملScreening in cystic fibrosis
A few trials on prenatal CF carrier screening have been performed assessing what proportion of pregnant women are likely to be offered screening and what proportion are likely to accept the test if it is offered free by their own physician (Rowley PT, 1997; Loader S, 1996). A paucity of experience-database is available on CF carrier screening and to terminate CF affected pregnancies. Women foun...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2002
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200207000-00002