Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2020 Oct 25;58(11):1857-1864.
doi: 10.1515/cclm-2020-0037.

Pilot study for cystic fibrosis neonatal screening: the Cuban experience

Elisa M Castells  1 , Aramis Sánchez  2 , Amarilys Frómeta  2 , Yanin Mokdse  2 , Nelson Ozunas  2 , Tania Licourt  2 , Ana Luisa Arteaga  2 , Eladio Silva  2 , Teresa Collazo  3 , Fidel Rodríguez  4 , Odalys Martín  2 , Maryeris Espinosa  2 , Lesley Del Río  2 , Pedro L Pérez  2 , Greilys Morejón  5 , Claudia Almira  2 , Zoe Núñez  2 , Antonio Melchor  6 , Ernesto Carlos González  7
Affiliations
Multicenter Study

Pilot study for cystic fibrosis neonatal screening: the Cuban experience

Elisa M Castells et al. Clin Chem Lab Med. .

Abstract

Background In Cuba, no screening program for cystic fibrosis (CF) has been implemented yet. The ultramicro enzyme-linked immunosorbent assay (UMELISA)® TIR NEONATAL has been developed for the measurement of immunoreactive trypsin (IRT) in dried blood spots on filter paper. The analytical performance of the kit was evaluated in the national network of laboratories. Methods Newborn dried blood samples (DBS) were evaluated in 16 laboratories. An IRT/IRT/DNA protocol was followed using a cut-off value of 50 ng/mL. The mean, median and percentiles of the distribution were calculated and a two-sample t-test with unequal variance was used for statistical analysis. Influence of perinatal factors on IRT levels was analyzed. Results From January to June 2018, 6470 newborns were studied, obtaining a mean IRT value of 12.09 ng/mL (ranging 0-358 ng/mL) and a median of 8.99 ng/mL. Fifty-two samples (0.78%) were above the cut-off level and 16 samples (0.24%) were elevated in the re-screening process. One of them was confirmed positive by molecular biology (phe508del/c.3120 + 1G > A), constituting the first newborn screened and diagnosed early in Cuba. Second DBS samples were collected on average at 14 days and processed in the laboratory at 16 days of birth. Significant differences were observed (p < 0.05) when evaluating the influence of gender, birth weight (BW) and gestational age (GA) on the IRT values. Lower IRT concentrations were found in samples processed after 10 days of collection. Conclusions The performance of UMELISA® TIR NEONATAL in the laboratories has been satisfactory; hence CF newborn screening (NBS) was extended throughout the country from January 2019.

Keywords: UMELISA®; cystic fibrosis; immunoreactive trypsin (IRT); newborn screening; pilot study.

PubMed Disclaimer

References

    1. Kosorok MR, Wei WH, Farrell PM. The incidence of cystic fibrosis. Stat Med 1996;15:449–62.
    1. Robinson P. Cystic fibrosis. Thorax 2001;56:237–41.
    1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, GrzelczakZ, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066–73.
    1. Cystic Fibrosis Mutation Database. 2017. http://www.genet.sickkids.on.ca/Home.html (Accessed October 2017).
    1. Prosser R, Owen H, Bull F, Parry B, Smerkinich J, Goodwin HA, et al. Screening for cystic fibrosis by examination of meconium. Arch Dis Child 1974;49:597–601.

Publication types