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

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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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Abbreviations

ACMG:

American College of Medical Genetics

CBAVD:

Congenital bilateral absence of the vas deferens

CF:

Cystic fibrosis

CFTR :

Cystic fibrosis transmembrane conductance regulator

CRMS:

CFTR-related metabolic syndrome

DOB:

Day of birth

IRT:

Immunoreactive trypsinogen

NBS:

Newborn screening

NGS:

Next-generation sequencing

NICU:

Neonatal intensive care unit

NPV:

Negative predictive value

NYS:

New York State

MI:

Meconium ileus

PAP:

Pancreatitis-associated protein

PPV:

Positive predictive value

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Acknowledgments

The authors wish to thank Dr. Andrew Reilly for assistance with statistical analysis, the Newborn Screening Follow-up group, especially David Render and Amy McGeoch, for referring and closing cases, the NYS CF Specialty Care Centers and NYS CF Consortium for providing diagnostic information on referred cases, and Bryan Laplante for assistance with newborn screening data.

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Conflict of interest

The authors declare that they have no conflicts of interest, financially or otherwise.

The manuscript is a retrospective case report that does not require ethics committee approval at our institution (Wadsworth Center, NYSDOH). All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.

Authors contributions

DMK, BV, and CAS were involved in analysis and interpretation of data and revising the manuscript. BM, RH, MP, LD, RM, EM, and LM were involved in acquisition of data and revising the manuscript. MC was involved in design of the work, interpreting data, and revising the manuscript. NPT was involved in design of the work, analysis and interpreting of data, and drafting the work.

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    Authors and Affiliations

    1. Division of Genetics, Wadsworth Center, New York State Department of Health, David Axelrod Institute, 120, New Scotland Ave., Albany, NY, 12208, USA

      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

    2. Department of Biomedical Sciences, School of Public Health, State University of New York, Albany, NY, USA

      Norma P. Tavakoli

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    Denise M. Kay and Breanne Maloney contributed equally to this work.

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    Kay, D.M., Maloney, B., Hamel, R. et al. Screening for cystic fibrosis in New York State: considerations for algorithm improvements. Eur J Pediatr 175, 181–193 (2016). https://doi.org/10.1007/s00431-015-2616-3

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