UMELISA® TIR NEONATAL: ultramicroassay for neonatal screening of cystic fibrosis
Keywords:
cystic fibrosis, neonatal screening, immunoreactive trypsin, ultramicroELISAAbstract
Introduction: Cystic fibrosis is the most common autosomal recessive disorder in the Caucasian population and affects approximately 1: 3,000 newborns. It is one of the pathologies recommended to be included in newborn screening programs of inherited-metabolic diseases worldwide.
Objective: To standardize and validate an ultramicroELISA for cystic fibrosis newborn screening and analysis of the results of the generalization of this test in the network of SUMA laboratories in Cuba.
Methods: Heterogeneous enzyme-linked immunosorbent assay to quantify immunoreactive trypsin in dried blood samples on filter paper. They were evaluated performance parameters and it was carried out a pilot study in six Cuban provinces.
Results: The run time is 20 hours, the useful range of the curve is 0-500 ng/mL, and the minimum detectable concentration is 1.5 ng/mL. The recovery percentages and the coefficients of variation are adequate for this type of method. A good correlation was obtained with the commercial AutoDELFIA Neonatal IRT kit (n = 3 958, r = 0.88, p <0,01, κ = 0.976). During the pilot study, they were studied 6470 samples, obtaining a mean IRT value of 12,1 ng/mL. A baby was confirmed by sweat test and molecular biology technique, constituting the first cystic fibrosis newborn to be investigated and early diagnosed in Cuba. It was obtained the sanitary registration in 2018 and thirty-two lots of reagents have been produced (14,475 kits equivalent to 4,168,800 determinations). Up to December 2021, 281,717 babies had been screened, of which 686 were repeatedly elevated for 0,24% positivity rate. Twenty one babies have been diagnosed with cystic fibrosis.
Conclusions: The UMELISA® TIR Neonatal is a precise and exact test that constitutes a novel and effective tool to be used successfully in cystic fibrosis neonatal screening in Cuba and other countries of our continent.
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