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01-02-2016 | Original Article

Screening for cystic fibrosis in New York State: considerations for algorithm improvements

Authors: Denise M. Kay, Breanne Maloney, Rhonda Hamel, Melissa Pearce, Lenore DeMartino, Rebecca McMahon, Emily McGrath, Lea Krein, Beth Vogel, Carlos A. Saavedra-Matiz, Michele Caggana, Norma P. Tavakoli

Published in: European Journal of Pediatrics | Issue 2/2016

Abstract

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)

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Title: Screening for cystic fibrosis in New York State: considerations for algorithm improvements
Authors: Denise M. Kay
Breanne Maloney
Rhonda Hamel
Melissa Pearce
Lenore DeMartino
Rebecca McMahon
Emily McGrath
Lea Krein
Beth Vogel
Carlos A. Saavedra-Matiz
Michele Caggana
Norma P. Tavakoli
Publication date: 01-02-2016
Publisher: Springer Berlin Heidelberg
Published in: European Journal of Pediatrics / Issue 2/2016
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-015-2616-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Screening for cystic fibrosis in New York State: considerations for algorithm improvements

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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