Preventive Procedures in Neonatology
DOI:
https://doi.org/10.5457/ams.v45iSuppl.%201.376Abstract
Newborn screening is a systematic testing the entire population of newborns of specific region or country for disorders that can be treated, but often they are not clinically recognized early enough. In recent years, newborn screening for a metabolic disease has dramatically improved in the most developed cuntries by proposing new laboratory- developed testing. The development of the tandem mass spectometry, which can screen for about 30 inherited metabolic disordes with a single drop of blood, has certainly contributed to the rapid expansion of newborn screening program. Mainly those are disorders of amino acid, lipids, carbohydrates metabolism and certain congenital endocrinopathies. In accordance with generally accepted screening tests for phenylketonuria and hypothyroidism, some countries have introduced newborn screening tests for galactosemia, cystic fibrosis, congenital adrenal hyperplasia, hemoglobinopathies, Duchenne muscular dystrophy and many other disorders. The prognosis of disorders that are not associated to any inborn error of metabolism, and occur during early childhood, are dependent on early recognition, prevention and treatment, and can be detected by other methods of screening. This group may include some infectious diseases such as congenital toxoplasmosis, HIV infections, certain cancer diseases especially neuroblastoma, hearing loss, congenital hip dysplasia, developmental anomalies of the kidney and many other.
The aim of this article is to highlight the importance of preventive procedures in Neonatology that have been carried out in our community.
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