Published online February 1, 2007
PEDIATRICS Vol. 119 No. 2 February 2007, pp. e460-e467 (doi:10.1542/peds.2006-1415)
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ARTICLE

New York State Cystic Fibrosis Consortium: The First 2.5 Years of Experience With Cystic Fibrosis Newborn Screening in an Ethnically Diverse Population

Robert Giusti, MDa, Ashley Badgwell, MSb, Alejandro D. Iglesias, MDb,c and the New York State Cystic Fibrosis Newborn Screening Consortium

a Departments of Pediatrics
b Obstetrics and Gynecology, Long Island College Hospital, Brooklyn, New York
c Division of Medical Genetics, Department of Pediatrics, Beth Israel Medical Center, New York, New York

OBJECTIVE. The purpose of this work was to report on the first 2.5 years of newborn screening for cystic fibrosis in New York.

METHODS. Directors of the 11 New York cystic fibrosis centers were asked to provide mutation data, demographic data, and selected laboratory results for each patient diagnosed by newborn screening and followed at their center. Summary data were also submitted from the New York newborn screening laboratory on the total number of patients screened, the number of positive screens, and the number of patients that were lost to follow-up. A second survey was submitted by each center regarding the availability of genetic counseling services at the center.

RESULTS. A total of 106 patients with cystic fibrosis were diagnosed through newborn screening in the first 2.5 years and followed at the 11 Cystic Fibrosis Foundation–sponsored cystic fibrosis care centers in New York. Two screen-negative infants were subsequently diagnosed with cystic fibrosis when symptoms developed. The allele frequency of {Delta}F508 was 57.4%, which is somewhat lower than the allele frequency of {Delta}F508 in the US cystic fibrosis population of 70%. There were 90 non-Hispanic white (84%), 12 Hispanic, 2 Asian, and 1 black infants diagnosed with cystic fibrosis during this period. Five patients were diagnosed secondary to a positive screen based on a high immunoreactive trypsinogen and no mutations.

CONCLUSIONS. Newborn screening for cystic fibrosis has been effectively conducted in New York using a unique screening algorithm that was designed to be inclusive of the diverse racial makeup of the state. However, this algorithm results in a high false-positive rate, and a large number of healthy newborns are referred for confirmatory sweat tests and genetic counseling. This experience indicates that it would be helpful to convene a working group of cystic fibrosis newborn screening specialists to evaluate which mutations should be included in a newborn screening panel.

Key Words: newborn screening • cystic fibrosis • immunoreactive trypsinogen

Abbreviations: CF—cystic fibrosis • CFTR—cystic fibrosis transmembrane regulator • NBS—newborn screening • CDC—Centers for Disease Control and Prevention • IRT—immunoreactive trypsinogen • PPV—positive predictive value

Accepted Sep 1, 2006.