WS21.3 Cystic fibrosis newborn screening protocols (IRT/IRT and IRT/DNA) comparison
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 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 کاملGuidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report.
Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2012
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(12)60149-0