NEONATAL SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES: RETROSPECTIVE AND MODERNITY
(LITERATURE REVIEW)
DOI:
https://doi.org/10.11603/24116-4944.2020.2.11833Keywords:
severe combined immunodeficiencies, neonatal screening, childrenAbstract
The aim of the study – to analyze current data from the literature that highlight the experience of severe combined immunodeficiencies implementation in the neonatal screening of foreign countries.
Materials and Methods. We have used Web of Science, Scopus and PubMed databases to identify publications describing the clinical and cost-effectiveness of screening for severe combined immunodeficiencies. Severe combined immunodeficiencies are the most severe conditions among primary immunodeficiencies. Infants with severe combined immunodeficiency are prone to life-threatening infections. Without early diagnostics and intervention, their mortality increases significantly, which determines the medical and social significance of these diseases. In many countries, neonatal testing for severe combined immunodeficiencies by PCR method for TREC/KREC analysis has been introduced.
Results and Discussion. According to the data from the literature, the practical experience of implementing neonatal screening for severe combined immunodeficiencies in foreign countries shows that testing is sensitive and specific, has a relatively low cost, and easily detects children with an asymptomatic course. These capabilities allow to quickly detect violations of cellular immunity, identify severe combined immunodeficiencies, begin adequate treatment of patients, take measures to prevent infections and save lives.
Conclusions. Severe combined immunodeficiencies meet the criteria for inclusion of nosology in the system of large-scale neonatal screening and foreign experience of the neonatal screening implementation in practice can be useful for Ukraine. Screening for severe combined neonatal immunodeficiencies can be implemented in clinical practice of Ukraine.
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