489 CF screened newborns with at least one R117H mutation: immunoreactive trypsinogen (IRT) and sweat test values, polyT and clinical symptoms
نویسندگان
چکیده
منابع مشابه
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
On April 1, 2007, Alberta became the first province in Canada to introduce cystic fibrosis (CF) to its newborn screening program. The Alberta protocol involves a two-tier algorithm involving an immunoreactive trypsinogen measurement followed by molecular analysis using a CF panel for 39 mutations. Positive screens are followed up with sweat chloride testing and an assessment by a CF specialist....
متن کاملGenetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H.
Newborn screening (NBS) for cystic fibrosis (CF) has been carried out in Victoria, Australia since 1989. The primary screen is immunoreactive trypsinogen (IRT) followed by DeltaF508 mutation analysis. As part of this process, carrier babies are detected and their parents are routinely offered carrier testing as part of their follow up. The DeltaF508 parent is identified and the other parent has...
متن کاملThe need for vigilance: the case of a false-negative newborn screen for cystic fibrosis.
Cystic fibrosis (CF) is the most common life-limiting recessive genetic disorder in the white population. CF is caused by abnormalities in the gene that codes for the cystic fibrosis transmembrane conductance regulator protein (CFTR) and may result in severe chronic lung disease, poor growth, and malnutrition. Physicians often do not consider CF in the differential diagnosis of an infant with f...
متن کاملCFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.
Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF) mutation, delta F508, much more frequently than the general population. Among the 716 IRT positive newborns detected by a three tier (IRT, mutation analysis plus meconium lactase assay, sweat test) CF screening programme in north eastern Italy...
متن کاملVariation in immunoreactive trypsinogen concentrations among Michigan newborns and implications for cystic fibrosis newborn screening.
OBJECTIVE To investigate variation in immunoreactive trypsinogen (IRT) concentrations by race, sex, birth weight, and gestational age and their implications for the use of percentile-based cutoffs for cystic fibrosis (CF) newborn screening (NBS) programs. PATIENTS AND METHODS This cross-sectional population-based study of resident infants screened in Michigan investigates associations between...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2006
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(06)80413-3