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Pilot study for cystic fibrosis neonatal screening: the Cuban experience

  • Elisa M. Castells EMAIL logo , Aramis Sánchez , Amarilys Frómeta , Yanin Mokdse , Nelson Ozunas , Tania Licourt , Ana Luisa Arteaga , Eladio Silva , Teresa Collazo , Fidel Rodríguez , Odalys Martín , Maryeris Espinosa , Lesley del Río , Pedro L. Pérez , Greilys Morejón , Claudia Almira , Zoe Núñez , Antonio Melchor und Ernesto Carlos González
Veröffentlicht/Copyright: 29. April 2020
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Clinical Chemistry and Laboratory Medicine (CCLM)
Aus der Zeitschrift Clinical Chemistry and Laboratory Medicine (CCLM) Band 58 Heft 11

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

Acknowledgments

We thank Lic. José Luis Fernández Sierra for his valuable help in the final language revision of the manuscript.

  1. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  2. Research funding: None declared.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The study was approved by the Ethical Committee of the Ministry of Public Health in conjunction with the National Association of CF doctors.

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Received: 2020-01-13
Accepted: 2020-03-28
Published Online: 2020-04-29
Published in Print: 2020-10-25

©2020 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/cclm-2020-0037
Schlagwörter für diesen Artikel
cystic fibrosis; immunoreactive trypsin (IRT); newborn screening; pilot study; UMELISA®

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Biotin interference in cardiac troponin immunoassay – where the wild things are?
  4. Review
  5. Laboratory-related issues in the measurement of cardiac troponins with highly sensitive assays
  6. Mini Review
  7. Chromatographic methods development for clinical practice: requirements and limitations
  8. Opinion Paper
  9. Harmonising EQA schemes the next frontier: challenging the status quo
  10. Genetics and Molecular Diagnostics
  11. Direct comparison study between droplet digital PCR and a combination of allele-specific PCR, asymmetric rapid PCR and melting curve analysis for the detection of BRAF V600E mutation in plasma from melanoma patients
  12. A novel mitochondrial m.14430A>G (MT-ND6, p.W82R) variant causes complex I deficiency and mitochondrial Leigh syndrome
  13. Obesity status modifies the association between rs7556897T>C in the intergenic region SLC19A3-CCL20 and blood pressure in French children
  14. General Clinical Chemistry and Laboratory Medicine
  15. Influence of reagent lots and multiple measuring systems on estimating the coefficient of variation from quality control data; implications for uncertainty estimation and interpretation of QC results
  16. Electrophoretic α1-globulin for screening of α1-antitrypsin deficient variants
  17. A continued method performance monitoring approach for the determination of pediatric renin samples – application within a European clinical trial
  18. Pilot study for cystic fibrosis neonatal screening: the Cuban experience
  19. Validation of the analytical performance of the NOVEOS™ System, a system which improves upon the third-generation in vitro allergy testing technology
  20. IgE cross-reactivity measurement of cashew nut, hazelnut and peanut using a novel IMMULITE inhibition method
  21. Sexual dimorphism in the cerebrospinal fluid total protein content
  22. Current state of the morphological assessment of urinary erythrocytes in The Netherlands: a nation-wide questionnaire
  23. Reference Values and Biological Variations
  24. Within-subject and between-subject biological variation of first morning void urine amino acids in 12 healthy subjects
  25. Proenkephalin as a new biomarker for pediatric acute kidney injury – reference values and performance in children under one year of age
  26. Hematology and Coagulation
  27. Quality performance for indirect Xa inhibitor monitoring in patients using international external quality data
  28. Cardiovascular Diseases
  29. Clinical risk assessment of biotin interference with a high-sensitivity cardiac troponin T assay
  30. Short- and long-term biological variation of cardiac troponin I in healthy individuals, and patients with end-stage renal failure requiring haemodialysis or cardiomyopathy
  31. Infectious Diseases
  32. Monocyte distribution width (MDW) as a screening tool for sepsis in the Emergency Department
  33. Performance of a Toxo IgM prototype assay for the diagnosis of maternal and congenital Toxoplasma infections
  34. Letters to the Editors
  35. Evaluation of an ELISA for SARS-CoV-2 antibody testing: clinical performances and correlation with plaque reduction neutralization titer
  36. Preliminary evaluation of Roche Cobas Elecsys Anti-SARS-CoV-2 chemiluminescence immunoassay
  37. Hypoalbuminemia and elevated D-dimer in COVID-19 patients: a call for result harmonization
  38. Total pathway to method validation
  39. Derivation of performance specifications for uncertainty of serum C-reactive protein measurement according to the Milan model 3 (state of the art)
  40. FGF23 measurement in burosumab-treated patients: an emerging treatment may induce a new analytical interference
  41. Use of a modified IDS-ISYS intact PTH assay for intraoperative PTH measurements
  42. Agreement of dried blood spot lyso-Gb3 concentrations obtained from different laboratories in patients with Fabry disease
  43. Influence of delayed separation of plasma from whole blood and centrifugation protocol on Zn plasma concentration
  44. A survey of order of draw on inpatient wards and adherence to EFLM-COLABIOCLI recommendations
  45. Successful implementations of automated minimum re-test intervals to overcome ferritin over-requesting in a Spanish hospital laboratory
  46. Remarkable pseudoleucocytosis induced by mild cryoglobulinemia
  47. Massive hemolysis due to Clostridium perfringens: a laboratory’s perspective
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