13 Cases of false negative cystic fibrosis newborn screening in Greece
نویسندگان
چکیده
منابع مشابه
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...
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 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 کاملFalse Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13
Background. Noninvasive prenatal screening (NIPS) is revolutionizing prenatal screening as a result of its increased sensitivity, specificity. NIPS analyzes cell-free fetal DNA (cffDNA) circulating in maternal plasma to detect fetal chromosome abnormalities. However, cffDNA originates from apoptotic placental trophoblast; therefore cffDNA is not always representative of the fetus. Although the ...
متن کاملParent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.
BACKGROUND The risk of psychosocial harm in families of infants with false-positive (FP) newborn bloodspot screening (NBS) results for cystic fibrosis (CF) is a longstanding concern. Whether well designed retrieval and confirmatory testing systems can mitigate risks remains unknown. METHODS Using a mixed-methods cohort design, we obtained prospective self-report data from mothers of infants w...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2016
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(16)30253-3