Inconclusive CF diagnosis in Neonatal Screening
نویسندگان
چکیده
منابع مشابه
Inconclusive diagnosis of cystic fibrosis after newborn screening.
OBJECTIVES To prospectively study infants with an inconclusive diagnosis of cystic fibrosis (CF) identified by newborn screening (NBS; "CF screen positive, inconclusive diagnosis" [CFSPID]) for disease manifestations. METHODS Infants with CFSPID and CF based on NBS from 8 CF centers were prospectively evaluated and monitored. Genotype, phenotype, repeat sweat test, serum trypsinogen, and micr...
متن کاملThe CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening
BACKGROUND Cystic fibrosis (CF) is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel after activation by cyclic AMP (cAMP). Newborn screening programs for CF usually consist of an immunoreactive trypsinogen (IRT) assay, followed when IRT is elevated by testing for a panel of CF-causing mutations. Some childre...
متن کاملQuantitative Bacterial Micro-Assay for Rapid Diagnosis of Galactosemia: Application in Galactosemia Neonatal Screening
In the present study a new economic and rapid bacterial micro-assay for simultaneous detection and quantitative measurement of serum galactose was developed. Analysis of the standard curve showed a linearity range for galactose from 2 mg/dL to 180 mg/dL with a regression equation of Y = 0.013X ? 0.083; R² = 0.962. The advantage of the method is its ability to measure serum galactose quantitativ...
متن کاملInconclusive cystic fibrosis neonatal screening results: long-term psychosocial effects on parents.
AIM Cystic Fibrosis (CF) Newborn Screening occasionally identifies neonates where a CF diagnosis can neither be confirmed nor excluded. To assess how parents of these infants cope with this ambiguous situation. METHODS Parents of 11 children with Ambiguous Diagnosis (group AD) were compared with parents of 11 children diagnosed with CF through neonatal screening [group Cystic Fibrosis Diagnos...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2009
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(09)60054-0