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Abstract(s)
O rasterio pré-natal para aneuploidias apresenta como objectivo principal a detecção da Síndrome de Down, bem como da Síndrome de Edwards, da Síndrome de Patau e da Síndrome de Turner, visto serem as principais doenças cromossómicas com significância na vida pós-natal. Um efectivo rastreio dos defeitos cromossómicos fetais pode ser realizado no 1º trimestre gestacional através da combinação de uma série de marcadores ecográficos e bioquímicos, permitindo o cálculo do Risco Fetal numa fase precoce da gravidez, altura ideal para a tomada de decisões quanto ao futuro da gestação. O objectivo primordial do rastreio pré-natal é limitar os exames invasivos a grávidas de alto risco para aneuploidia fetal, visto que tais procedimentos acarretam 0,5 a 1% de risco de abortamento. Nesse sentido o osso nasal fetal surge como um marcador ecográfico que adicionado ao rastreio combinado do 1º trimestre poderá aumentar a sensibilidade e diminuir os falsos-positivos e, portanto, reduzir o número de grávidas submetidas a testes de diagnóstico invasivo.
Prenatal screening aims for the early detection of Down syndrome as well as Edwards syndrome, Patau syndrome and Turner syndrome. These are some of the major chromosomal diseases in postnatal life. An effective screening of fetal chromosomal defects can be achieved in the first trimester of pregnancy through several ultrasound and biochemical markers. One of the main targets of ultrasound prenatal screening is to avoid invasive tests on pregnant women with a high-risk for fetal aneuploidy. These kind of procedures are responsible for an abortion risk of 0,5 to 1%. Fetal nasal bone appears as an ultrasound marker that can be combined with the first trimester screening to increase it’s sensitivity and specificity, consequently reducing the number of pregnant women undergoing invasive diagnostic tests.
Prenatal screening aims for the early detection of Down syndrome as well as Edwards syndrome, Patau syndrome and Turner syndrome. These are some of the major chromosomal diseases in postnatal life. An effective screening of fetal chromosomal defects can be achieved in the first trimester of pregnancy through several ultrasound and biochemical markers. One of the main targets of ultrasound prenatal screening is to avoid invasive tests on pregnant women with a high-risk for fetal aneuploidy. These kind of procedures are responsible for an abortion risk of 0,5 to 1%. Fetal nasal bone appears as an ultrasound marker that can be combined with the first trimester screening to increase it’s sensitivity and specificity, consequently reducing the number of pregnant women undergoing invasive diagnostic tests.
Description
Keywords
Aneuploidia Rastreio pré-natal Diagnóstico pré-natal Cromossomopatia Osso nasal fetal - Aneuploidia Trissomias Síndrome de Down Ecografia obstétrica
Pedagogical Context
Citation
Publisher
Universidade da Beira Interior