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      Avaliação ultra-sonográfica do osso nasal fetal: evolução das medidas ao longo da gestação Translated title: Ultrasonographic assessment of fetal nasal bone: normal ranges throughout gestation

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          Abstract

          OBJETIVO: além da ausência ultra-sonográfica do osso nasal fetal, sua hipoplasia também apresenta forte associação com a trissomia 21, porém por não haver clara definição do que seja tal hipoplasia, objetivou-se estabelecer seus valores de referência ao longo da gestação, em população brasileira. MÉTODOS: este estudo seccional se baseou em 625 dentre 902 fetos, entre 10 e 39 semanas, considerando-se uma medida de cada indivíduo. Foram excluídos os malformados e aqueles cujas mães apresentavam doenças que, sabidamente, interferem em seu crescimento. Utilizou-se a imagem ecográfica do perfil fetal, com feixe acústico incidindo em ângulo de 45 ou 135° em relação ao plano da face. A média de cada idade gestacional foi estimada pela regressão polinomial. O teste de Anderson-Darling verificou a distribuição normal das medidas (p>0,05). RESULTADOS: dos 625 fetos, 88,3% originaram-se de gestações simples e 11,7% de gestações múltiplas. O avanço da idade gestacional implicou aumento da medida do osso nasal e aumento de sua variabilidade. Encontrou-se tamanho mínimo de 1,0 mm e 4,7 mm no primeiro e segundo trimestres, respectivamente. CONCLUSÕES: há correlação direta entre o tamanho do osso nasal e a idade gestacional. Essa correlação é válida tanto para gestação simples quanto para múltipla. Este trabalho permite adotar a avaliação ecográfica do osso nasal fetal como marcador de cromossomopatias, ao estabelecer os valores de referência de sua medida ao longo da gestação, útil para a população brasileira, com grande miscigenação étnica. Entretanto, necessita-se aprimorar a sistematização e padronização do estudo ecográfico do osso nasal fetal, além de estabelecer seu real valor em fetos previamente classificados como de alto e baixo risco para aneuploidias.

          Translated abstract

          PURPOSE: the absence of fetal nasal bone is correlated with trisomy 21. Although a hypoplastic nasal bone is also correlated with trisomy 21, there is no clear definition of this term in the literature. Our objective was to establish the reference values for fetal nasal bone size throughout gestation in a local population in Brazil. METHODS: it is a cross-sectional study on 902 fetuses at 10 to 39 weeks of gestation. After having excluded fetal malformations and maternal diseases which are known to interfere with fetal growth, 625 fetuses were selected. We obtained a mid-sagittal view of the fetal profile by holding the ultrasound bean at an angle of 45º or 135º. The nasal bone size mean was calculated by using polynomial regression. The Anderson-Darling test proved the normal distribution of the measurements (p>0.05). RESULTS: of the 625 fetuses, 88.3% were from single gestations and 11.7% from multiple ones. There was a direct correlation between fetal nasal bone size and gestational age. The variability of nasal bone size became larger as gestational age increased. Minimal length of 1.0 and 4.7 mm in the first and second trimesters, respectively, were found. CONCLUSIONS: there is a direct correlation between fetal nasal bone size and gestational age. This correlation is valid either for a single gestation or a multiple one. These measurements of the fetal nasal bone will allow us to use them as a screening test for cromosomal abnormalities. This is a useful study if we consider the large miscegenation of the Brazilian population. However, further systematic and standardized approach to study the fetal nasal bone is needed to establish its real value in fetuses once classified as at high or low risk for aneuploidies.

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          Pattern of malformations in the axial skeleton in human trisomy 21 fetuses.

          In the present study, we analyzed the development of the axial skeleton in human trisomy 21 fetuses and defined the fields in the axial skeleton affected in this form of aneuploidy. We investigated 31 human fetuses with trisomy 21, gestational ages 12-24 weeks, on the basis of radiographs of midsagittal tissue blocks of the axial skeleton, comprising the cranial base and the spine. Malformation or agenesis of the nasal bone was present in 19 of 31 fetuses. Nineteen cases had vertebral malformations. Fourteen fetuses had malformations in the cervical region, four in the thoracic and eight in the lumbosacral region. In 1 of 31 fetuses, malformation was seen in the basilar part of the occipital bone. The basisphenoid component appeared scallop-shaped in 30 cases. The pattern of axial skeletal malformations in trisomy 21 fetuses recorded here has not been described previously. Comparison is made with our recent study of trisomy 18, where the pattern of axial skeletal malformations was quite different. It is recommended that axial skeletal radiography should be part of the autopsy of fetuses where chromosome abnormalities are known or suspected.
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            Nasal bone evaluation with ultrasonography a marker for fetal aneuploidy

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              Fetal nasal bone length: reference range and clinical application in ultrasound screening for trisomy 21.

              Fetuses with trisomy 21 typically present with subtle facial abnormalities, including a hypoplastic nasal bone. The aim of this study was to provide a reference range for the length of the fetal nasal bone and to test its value in second-trimester ultrasound screening for trisomy 21. A reference range of fetal nasal bone length was established from cross-sectional data on 1923 consecutive singleton pregnancies scanned at 16-24 weeks' gestation in women older than 35 years. Screening for trisomy 21 was prospectively studied using the measurement of fetal nasal bone lengths smaller than the 5(th) percentile as a cut-off value. Follow-up was possible in 1631 cases (84.8%). Trisomy 21 was found in 22 cases (1.35%). Nasal bone length measurement increased as a function of gestational age (P < 0.05) showing a linear relationship. Screening for trisomy 21 using the 5(th) percentile as a cut-off value resulted in a sensitivity of 59.1% for a 5.1% false-positive rate. The likelihood ratio was 11.6. Screening for trisomy 21 using fetal nasal bone length measurements showed a sensitivity comparable to that of maternal biochemistry for a given false-positive rate of 5%. Association of nasal bone lengths with other sonographic markers, taking into account the background risk for maternal and gestational age, may further improve sensitivity and reduce false positives, allowing avoidance of unnecessary invasive diagnostic procedures. Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                rbgo
                Revista Brasileira de Ginecologia e Obstetrícia
                Rev. Bras. Ginecol. Obstet.
                Federação Brasileira das Sociedades de Ginecologia e Obstetrícia (Rio de Janeiro )
                1806-9339
                March 2006
                : 28
                : 3
                : 151-157
                Affiliations
                [1 ] ECCOS - Clínica da Imagem Brasil
                [2 ] Clínica Gennus Brasil
                [3 ] Universidade Federal de Minas Gerais Brazil
                [4 ] Universidade Federal de Minas Gerais Brazil
                Article
                S0100-72032006000300003
                10.1590/S0100-72032006000300003
                64bb5aa1-1c7f-4aca-90c9-391f725ea91e

                http://creativecommons.org/licenses/by/4.0/

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                Product

                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=0100-7203&lng=en
                Categories
                OBSTETRICS & GYNECOLOGY

                Obstetrics & Gynecology
                Ultrasonography,prenatal,Nasal bone,Down syndrome,Aneuploidy,Reference values,Ultrasonografia pré-natal,Osso nasal,Síndrome de Down,Aneuploidia,Valores de referência

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