Determining the optimal newborn screening protocol for cystic fibrosis

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Determining the optimal newborn screening protocol for cystic fibrosis.

There is more published research examining newborn screening (NBS) for cystic fibrosis (CF) than for any other condition. Overall, the evidence for clinical benefit supports this strategy in an appropriate population with accessible healthcare provision. 3 However, the evidence base is not as strong as one might expect, and this highlights the importance of ensuring that CF NBS programmes are d...

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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...

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Newborn 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...

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Screening for cystic fibrosis in the newborn by meconium analysis.

During a 4-year routine screening programme for cystic fibrosis (CF) 15 464 specimens were examined for raised meconium albumin levels by a test strip method and by electroimmunoassay. The incidence of false-positive results was about 5 per 1000 specimens in either test. This could be reduced by 90% by determining the ratio of albumin : alpha-1-trypsin inhibitor (a ratio below 2.0 being conside...

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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...

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ژورنال

عنوان ژورنال: Thorax

سال: 2012

ISSN: 0040-6376,1468-3296

DOI: 10.1136/thoraxjnl-2012-201589