Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
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 کاملFeature: 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 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: International Journal of Neonatal Screening
سال: 2020
ISSN: 2409-515X
DOI: 10.3390/ijns6010019