Abstract:
UNLABELLED:Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening for CF involved measuring immunoreactive trypsinogen (IRT) levels in dried blood spots from newborns using the IMMUCHEM(™) Blood Spot Trypsin-MW ELISA kit. Any specimen in the top 5% IRT level underwent DNA analysis using the InPlex(®) CF Molecular Test. Of the 1.48 million newborns screened during the 6-year time period, 7631 babies were referred for follow-up. CF was confirmed in 251 cases, and 94 cases were diagnosed with CF transmembrane conductance regulated-related metabolic syndrome or possible CF. Nine reports of false negatives were made to the program. Variation in daily average IRT was observed depending on the season (4-6 ng/ml) and kit lot (<3 ng/ml), supporting the use of a floating cutoff. The screening method had a sensitivity of 96.5%, specificity of 99.6%, positive predictive value of 4.5%, and negative predictive value of 99.5%. CONCLUSION:Considerations for CF screening algorithms should include IRT variations resulting from age at specimen collection, sex, race/ethnicity, season, and manufacturer kit lots. WHAT IS KNOWN:Measuring IRT level in dried blood spots is the first-tier screen for CF. Current algorithms for CF screening lead to substantial false-positive referral rates. WHAT IS NEW:IRT values were affected by age of infant when specimen is collected, race/ethnicity and sex of infant, and changes in seasons and manufacturer kit lots The prevalence of CF in NYS is 1 in 4200 with the highest prevalence in White infants (1 in 2600) and the lowest in Black infants (1 in 15,400).
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Kay DM,Maloney B,Hamel R,Pearce M,DeMartino L,McMahon R,McGrath E,Krein L,Vogel B,Saavedra-Matiz CA,Caggana M,Tavakoli NPdoi
10.1007/s00431-015-2616-3subject
Has Abstractpub_date
2016-02-01 00:00:00pages
181-93issue
2eissn
0340-6199issn
1432-1076pii
10.1007/s00431-015-2616-3journal_volume
175pub_type
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journal_title:European journal of pediatrics
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journal_title:European journal of pediatrics
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pub_type: 杂志文章,多中心研究
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