Nasal bone and trisomy 21: prenatal ultrasound and postmortem morphohistological study

Rustico, Mariangela; Bussani, Rossana; Silvestri, Furio

doi:10.1002/uog.948

Cited by 4 publications

(5 citation statements)

References 8 publications

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“…This study describes volume-rendered views of the nasal bones in fetuses with Down syndrome. We confirmed observations made in previous postmortem studies using either histologic sections 33 or radiographs 31 that nasal bone hypoplasia in fetuses with Down syndrome is characterized by asymmetrical distribution or unilateral absence of nasal bone tissue. Furthermore, our findings suggest that hypoplastic nasal bones do not fuse in the midline.…”

Section: Discussionsupporting

confidence: 91%

“…Four studies reported postmortem histopathologic findings of nasal bones in fetuses with Down syndrome, and nasal bone absence or hypoplasia was observed in all of them. [30][31][32][33] Among these studies, Rustico et al 33 used transverse rather than sagittal histologic sections through the nasal crown and, therefore, was able to visually compare the appearance of the paired nasal bones. Nasal bone histologic sections from 3 fetuses with Down syndrome were compared with those obtained from 4 fetuses with a normal karyotype (mean gestational age, 16 weeks).…”

Section: Discussionmentioning

confidence: 99%

“…12,22 Recently, several studies have evaluated the postmortem radiographic or histopathologic appearance of nasal bones in fetuses with Down syndrome. [27][28][29][30][31][32][33] Two of these studies 31,33 suggested that hypoplastic nasal bones may be asymmetri-cal (ie, one nasal bone may have an increased proportion of bone tissue when compared with the contralateral side) or unilateral. The purpose of this study was to determine the frequency and clinical significance of bilateral and unilateral hypoplastic nasal bones for the detection of Down syndrome by 3-dimensional ultrasonography (3DUS).…”

mentioning

confidence: 99%

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Phenotypic Characteristics of Absent and Hypoplastic Nasal Bones in Fetuses With Down Syndrome

Gonçalves

Espinoza

Lee

et al. 2004

Journal of Ultrasound in Medicine

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Phenotypic Characteristics of Absent and Hypoplastic Nasal Bones in Fetuses With Down Syndrome

Gonçalves

Espinoza

Lee

et al. 2004

Journal of Ultrasound in Medicine

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“…Radiologic and histologic studies of the nasal bone revealed that absence or hypoplasia can be unilateral. 18,19 This finding, which is overlooked by 2D US, which can only measure one aspect of the nasal bone, can also be determined by a 3D evaluation. Benoit and Data are presented as mean AE SD.…”

Section: Discussionmentioning

confidence: 99%

Assessment of the Nasal Bone by 2‐Dimensional Ultrasound in 2 Different Planes: Do They Give the Same Results?

Kavak

2019

J of Ultrasound Medicine

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Objectives Measurement of the nasal bone is an important part of the genetic sonogram. This study aimed to compare nasal bone length measurements taken in 2 different planes and to determine whether there is consistency between the measurements. Methods The nasal bone was measured in 103 fetuses whose mothers were admitted to our clinic for second‐trimester ultrasound examinations and who did not have any accompanying diseases. In this prospective study, the gestational ages of fetuses ranged from 19 to 23 weeks. Nasal bones were measured in both coronal and midsagittal planes, and the similarity between the measurements was evaluated. Pearson correlation, Wilcoxon signed rank, and Kruskal‐Wallis tests were used to evaluate the results. Results The median nasal bone length increased with increasing gestational age in both planes, as expected. There were no statistically significant differences between the fetal nasal bone lengths taken in the midsagittal and coronal planes at 19 to 23 weeks’ gestation (P > .05). Conclusions The coronal plane may be used as an alternative to evaluate the nasal bone in the second trimester of pregnancy.

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“…No entanto, como esses dois métodos não podem ser utilizados como rastreamento pré-natal, a imagem ultra-sonográfica torna-se o padrão-ouro 24 . Além disso, o estudo histopatológico da região nasal de fetos acometidos com a síndrome de Down demonstra em 10-20% dos casos presença de tecido osteocartilaginoso contra 35-50% nos fetos normais, confirmando-se que o método ultrasonográfico tem capacidade de inferir sobre o padrão de ossificação do nariz fetal 25 . A presente investigação serve como ponto de partida para diversas pesquisas.…”

Section: Idade Gestacional (Semanas)unclassified

Avaliação ultra-sonográfica do osso nasal fetal: evolução das medidas ao longo da gestação

Júnior¹,

Faria²,

Castro

et al. 2006

Rev. Bras. Ginecol. Obstet.

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RESUMOObjetivo: 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. PALAVRAS-CHAVE:Ultrasonografia pré-natal; Osso nasal; Síndrome de Down; Aneuploidia; Valores de referência 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 45 o or 135 o . 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, respective...

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Nasal bone and trisomy 21: prenatal ultrasound and postmortem morphohistological study

Cited by 4 publications

References 8 publications

Phenotypic Characteristics of Absent and Hypoplastic Nasal Bones in Fetuses With Down Syndrome

Phenotypic Characteristics of Absent and Hypoplastic Nasal Bones in Fetuses With Down Syndrome

Assessment of the Nasal Bone by 2‐Dimensional Ultrasound in 2 Different Planes: Do They Give the Same Results?

Avaliação ultra-sonográfica do osso nasal fetal: evolução das medidas ao longo da gestação

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