Results of DNA-based cystic fibrosis newborn screening proficiency testing
نویسندگان
چکیده
منابع مشابه
Feature: Newborn Screening for Cystic Fibrosis
Cystic Fibrosis is an autosomal recessive disease affecting the exocrine glands of the lung, liver, pancreas and intestines. It leads to a diverse range of clinical problems. Although most patients have multiple organs involved, pulmonary disease is the principal cause of both morbidity and mortality in the majority of patients. Cystic Fibrosis is the result of abnormalities in the gene that co...
متن کاملNewborn Screening for Cystic Fibrosis in California.
OBJECTIVES This article describes the methods used and the program performance results for the first 5 years of newborn screening for cystic fibrosis (CF) in California. METHODS From July 16, 2007, to June 30, 2012, a total of 2,573,293 newborns were screened for CF by using a 3-step model: (1) measuring immunoreactive trypsinogen in all dried blood spot specimens; (2) testing 28 to 40 select...
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 کاملCystic fibrosis newborn screening and detection of carriers.
A decision to introduce nationwide cystic fibrosis (CF) newborn screening in the United Kingdom has now been taken, although the exact procedure is still being determined, except in Scotland where screening began in February 2003. In Scotland, as well as in a number of regions in England and Wales where ad hoc newborn screening was started some time ago, an immune reactive trypsin (IRT)/ DNA sy...
متن کاملClinical outcomes of newborn screening for cystic fibrosis.
AIM To determine how early diagnosis of cystic fibrosis, using neonatal screening, affects long term clinical outcome. METHODS Fifty seven children with cystic fibrosis born before neonatal screening was introduced (1978 to mid 1981) and a further 60 children born during the first three years of the programme (mid 1981 to 1984), were followed up to the age of 10. The cohorts were compared on ...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2008
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(08)60054-5