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 born...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Amaltea Medical Publishing House
2013-12-01
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| Series: | Romanian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2013-Nr.4/EN/RJP_2013_4_EN_Art-06.pdf |
| Summary: | 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 fl uorometric 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. |
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| ISSN: | 1454-0398 2069-6175 |