Dynamics of Newborn Screening for Phenylketonuria in Moldova

Background: Phenylketonuria(PKU) or hyperphenylalaninemia(HPA) is an autosomal recessive inborn error of metabolism, resulting from phenylalanine-hydroxylase(PAH) gene defect leading to mental retardation if untreated. PKU has an efficient treatment if early detected by newborn screening(NBS). Aim of study was to analyze the data of NBS in Moldova.

Materials and Methods: NBS by fluorometric method is applied to all the maternities starting from 1989 and works till present for exception of 2004-2006 when NBS stopped due to technical problems. In 2021 there were born 29230 and 27642 were screened.

Results: Between 1993-2021, 869485 newborns were screened representing 80% of newborns. In 2021 the cover rate was 94.57% and 4 PKU patients were identified. Screening specificity was 99.05% and sensitivity was 100%. From 2010 the cover rate was over 95%. In Moldova are recorded 134 PKU patients.

Conclusion: Maintaining high coverage of NBS indicates a good organization of program. High specificity and sensitivity of the screening program indicates that it is a reliable method for identifying PKU patients. It’s important that PKU newborns to be early identified and immediately subjected to therapy.