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Prevalência de nados-vivos com síndrome de Down: indicador conjunto da gravidez tardia e das políticas de diagnóstico pré-natal entre 2011-2017
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Advisor(s)
Abstract(s)
Indicadores são instrumentos de medida que permitem construir um
resumo quantitativo que reflita, direta ou indiretamente, o estado de
saúde da população e das políticas de saúde, assim como medem o
efeito das intervenções. Na área das anomalias congénitas, o indicador
“Prevalência nados-vivos com síndrome de Down” pretende medir o
efeito conjunto da gravidez tardia e do impacto das políticas de diagnóstico
pré-natal. Apresentam-se os resultados desse indicador para os
anos de 2011 a 2017, utilizando os dados do Registo Nacional de Anomalias
Congénitas. Foram notificados 1012 nascimentos com síndrome de
Down, dos quais 82,5% foram diagnosticados no período pré-natal. Dos
266 que nasceram vivos, 66,5% foram diagnosticados ao nascer e 33,4%
foram diagnosticados durante a gravidez através de estudo cromossómico.
A realização de exames invasivos, após a suspeita de síndrome de
Down, foi recusada pelos progenitores em 20,7% casos. Fatores morais,
éticos ou religiosos podem estar associados à não realização de exames
invasivos, sendo necessários mais estudos a nível nacional sobre esta
temática. Este estudo evidencia uma aplicação em saúde pública dos
dados do Registo Nacional de Anomalias Congénitas, observando-se um
impacto positivo da disponibilidade de diagnóstico pré-natal na vigilância
da gravidez ao permitir o diagnóstico pré-natal de 82,5% de todos os
casos com síndrome de Down.
An indicator is a quantitative or qualitative measure of how close we are to achieving the health status of the population, or to measure the effect of a policy intervention. In the congenital anomalies field, the “Prevalence of live births with Down Syndrome” reflects the combined effect of delayed childbearing age and prenatal diagnosis policies. We used data from the National Registry of Congenital Anomalies between 2011 and 2017. The analyses included 1012 registered cases with Down syndrome of which 82.5% had been prenatally diagnosed. Among the 266 live births, 66.5% were diagnosed at birth and 33.4% were diagnosed during pregnancy and confirmed by karyotype analysis. Invasive prenatal procedures such as amniocentesis or chorionic villus sampling were refused by 20.7% of parents. Cultural factors may be associated with the decision of not perform invasive prenatal testing, but more studies are needed at national level to better understand this topic. This paper describes the contribution of the National Registry of Congenital Anomalies data to build public health indicators. This indicator shows a positive impact of prenatal diagnosis policy on pregnancy surveillance when 82.5% of all cases of Down syndrome during pregnancy.
An indicator is a quantitative or qualitative measure of how close we are to achieving the health status of the population, or to measure the effect of a policy intervention. In the congenital anomalies field, the “Prevalence of live births with Down Syndrome” reflects the combined effect of delayed childbearing age and prenatal diagnosis policies. We used data from the National Registry of Congenital Anomalies between 2011 and 2017. The analyses included 1012 registered cases with Down syndrome of which 82.5% had been prenatally diagnosed. Among the 266 live births, 66.5% were diagnosed at birth and 33.4% were diagnosed during pregnancy and confirmed by karyotype analysis. Invasive prenatal procedures such as amniocentesis or chorionic villus sampling were refused by 20.7% of parents. Cultural factors may be associated with the decision of not perform invasive prenatal testing, but more studies are needed at national level to better understand this topic. This paper describes the contribution of the National Registry of Congenital Anomalies data to build public health indicators. This indicator shows a positive impact of prenatal diagnosis policy on pregnancy surveillance when 82.5% of all cases of Down syndrome during pregnancy.
Description
Keywords
Síndrome de Down Gravidez Anomalias Congénitas Diagnóstico Pré-natal Diagnóstico Precoce Políticas de Saúde Registo Nacional de Anomalias Congénitas RENAC Doenças genéticas e cromossómicas Estados de Saúde e de Doença Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2020 maio-agosto;9(27):27-30
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP