Indexed in / abstracted by
Stimati cititori, va reamintim ca autorii primi ai articolelor stiintifice pot acumula 80 de credite EMC in urma publicarii. Daca un articol are mai multi autori, cele 80 de credite [...]
Incepand cu 2016, Societatea Romana de Pediatrie ofera Premiul Societatii - pentru autorii celor mai bune articole stiintifice publicate [...]
Tema plagiatului este tot mai mult discutata in ultima vreme. Aparitia unor programe performante de cautare si identificare a similitudinilor intre texte [...]
NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012
Objective. To evaluate the Newborn Screening Program for rare diseases – congenital hypothyroidism (CH) and phenylketonuria (PKU) – in the north-east part of Romania from 2009 to 2012.
Methods. To realize the transversal descriptive study, we studied the cohorts formed by the babies who were borne between 2009-2012 in the maternities situated in the north-east part of the country. The screening was performed for two diseases: phenylketonuria (PKU) and congenital hypothyroidism (CH). Thyroid stimulating hormone (TSH) and phenylalanine (Phe) were tested by fluorometric assay. Newborns with abnormal screening results (TSH > 9 μIU/L, Phe > 3 mg/dl) were re-examined.
Results. A total of 76,308 newborns were screened. From these, were detected 9 cases with CH and 5 cases with PKU. The incidence of CH was 1: 8,478 and of PKU1: 15,261, for the whole period.
Conclusions. Newborn screening programme represent an important public health programme that allows early diagnosis and prevention of severe consequences for PKU and CH.
Key words: newborn screening, congenital hypothyroidism, phenylketonuria, Romania