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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 4, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012

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ABSTRACT

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

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