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Prematuridade e Rastreio Neonatal
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Advisor(s)
Abstract(s)
Introdução: Os programas de rastreio neonatal são programas de saúde pública, com o objetivo de uma deteção precoce de recém-nascidos afetados por determinada patologia, com
vista a um início atempado do tratamento, que conduza a uma diminuição da morbilidade e mortalidade. Em todo o mundo, a taxa média dos prematuros ao nascimento é
estimada em cerca de 10%, tendo a evolução científica e tecnológica no campo da neonatologia contribuído para o recente aumento significativo da sua taxa de
sobrevivência. Também em Portugal, e de acordo com dados da Sociedade Portuguesa de Neonatologia (SPN), apesar da natalidade ter vindo a descer nos últimos anos, o
número de recém-nascidos de extremo baixo peso (RNEBP), isto é, que nascem com menos de 1500 gramas e/ou menos de 30 semanas de gestação, tem vindo a
aumentar. A imaturidade e complicações clinicas associadas à prematuridade originam frequentemente alterações no rastreio neonatal destes bebés, contribuindo para o
aumento da percentagem de resultados falsos positivos e negativos no rastreio neonatal deste grupo de recém-nascidos.
O objetivo deste trabalho consiste na avaliação da estratégia utilizada na URN para efetuar o rastreio neonatal dos RNBP, e que consiste na análise de três amostras
colhidas entre o 3º e o 6º dia, às duas semanas e às quatro semanas de vida.
Worldwide, the birth premature average rate is estimated to be around 10%. Scientific and technological developments in the field of neonatology contributed to the recent significant increase in the survival rate of premature infants and also in Portugal, the number of live premature births has been increasing during the last years, according with data of the Portuguese Society for Neonatology. Nevertheless, the mortality and morbidity of very low birth weight (<1500g) infants is still very high, mainly connected with respiratory failure, infections and congenital malformations. The immaturity and clinical complications associated with prematurity affects newborn screening (NBS) results and may contribute to both false positive and false negative results. Since 2014, to avoid false negative results for very low birth weight premature infants (birth weight ≤ 1500g or gestational weeks age ≤ 30 weeks), three samples should be taken to these infants for congenital hypothyroidism (CH) newborn screening. In this study a large cohort of very low birth weight infants, born between 2014 and 2017, was retrospectively analyzed for NBS alterations due to prematurity. In addition to the know interference in the CH-NBS, alterations could be found in metabolic and cystic fibrosis (CF)-NBS which may be attributed to prematurity. The two additional samples collected for CH-NBS revealed also useful to clarify most altered values found for metabolic and CF-NBS in the first sample, thus avoiding parents’ anxiety associated with NBS repetition due to altered values.
Worldwide, the birth premature average rate is estimated to be around 10%. Scientific and technological developments in the field of neonatology contributed to the recent significant increase in the survival rate of premature infants and also in Portugal, the number of live premature births has been increasing during the last years, according with data of the Portuguese Society for Neonatology. Nevertheless, the mortality and morbidity of very low birth weight (<1500g) infants is still very high, mainly connected with respiratory failure, infections and congenital malformations. The immaturity and clinical complications associated with prematurity affects newborn screening (NBS) results and may contribute to both false positive and false negative results. Since 2014, to avoid false negative results for very low birth weight premature infants (birth weight ≤ 1500g or gestational weeks age ≤ 30 weeks), three samples should be taken to these infants for congenital hypothyroidism (CH) newborn screening. In this study a large cohort of very low birth weight infants, born between 2014 and 2017, was retrospectively analyzed for NBS alterations due to prematurity. In addition to the know interference in the CH-NBS, alterations could be found in metabolic and cystic fibrosis (CF)-NBS which may be attributed to prematurity. The two additional samples collected for CH-NBS revealed also useful to clarify most altered values found for metabolic and CF-NBS in the first sample, thus avoiding parents’ anxiety associated with NBS repetition due to altered values.
Description
Keywords
Doenças Genéticas Rastreio Neonatal Diagnostico Precoce Teste do Pezinho Saúde Pública Portugal