Nuchal thickness evolution in trisomy 18 fetuses

Borrell, Antoni; Farré, Marta; Echevarría, M.; Martínez, Josep M.; Costa, Dolors; Fortuny, Albert

doi:10.1046/j.1469-0705.2000.00200.x

Cited by 9 publications

(5 citation statements)

References 12 publications

(9 reference statements)

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“…In the first trimester, nuchal translucency (NT) is investigated, in which the distance between the external surface of the occipital bone and the internal surface of the skin is measured in a longitudinal section [6][7][8][9][10] , its proposed limit being 3 mm [11][12][13][14] . Some authors recommend the use of a multiple of median, compared to values measured at different weeks of normal pregnancies [15][16][17][18] .…”

Section: Nuchal Oedema In the First Trimestermentioning

confidence: 99%

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Beke¹,

Joó²,

Csaba³

et al. 2009

Fetal Diagn Ther

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Introduction: The authors investigated the incidence of chromosomal abnormalities in subcutaneous oedema detected in the fetus by intrauterine ultrasonography. Material and Method: In the 10-year period, intrauterine karyotyping was performed in pregnancies with positive ultrasound findings for subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Results: Intrauterine karyotyping in fetal subcutaneous oedema was carried out in 434 cases. The chromosomal investigation was made in nuchal oedema in 374 cases, in 120 patients the chromosomal examination was made in the first trimester because of nuchal translucency, and in 254 cases in the second trimester because of nuchal thickening. Cystic hygroma cases (27 patients), non-immune hydrops cases (20 patients), and combined cases of non-immune hydrops and cystic hygroma (13 patients) were investigated separately. In nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51% in the second trimester. Chromosomal abnormality was found in 48.15, 20, and 53.8% in cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all of the changes accompanied by subcutaneous oedema, 50, 25 and 18.75% of the pathological karyotypes was X-monosomy, trisomy 18 and trisomy 21, respectively. Discussion: It was important to distinguish nuchal oedema and cystic hygroma, and in the case of non-immune hydrops, it was also important to discuss cases with or without cystic hygroma separately. During the investigations, cases of non-immune hydrops with or without cystic hygroma were evaluated as separate categories. Conclusions: The authors emphasize the differentiation of the various types of subcutaneous oedema and the importance of precise information about the risks, provided during genetic counselling.

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Section: Nuchal Oedema In the First Trimestermentioning

confidence: 99%

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Beke¹,

Joó²,

Csaba³

et al. 2009

Fetal Diagn Ther

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“…This absolute increase was not significant when expressed as standard deviations over the normal mean for gestational age [18]. In the contrary, in trisomy 18 fetuses an absolute decrease of 1.3 mm was observed [19]. Although disappearance of NT has been reported, it is becoming clearer that the degree of NT disappearance is slower in trisomy 21 fetuses as compared to chromosomally normal fetuses.…”

Section: Natural Evolutionmentioning

confidence: 76%

Fetal nuchal translucency and skinfold to screen for fetal aneuploidy

Borrell

Fortuny

Goncé

et al. 2005

The Ultrasound Review of Obstetrics & Gynecology

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Nuchal translucency (NT) is defined as the accumulation of subcutaneous fluid in the nuchal region of the fetus at 11-14 weeks. Its measurement in order to modify the previous background risk has been proved to be able to detect around 70% of trisomy 21 pregnancies (for a 5% fixed positive rate). When affected fetuses dying before 20 weeks are excluded, detection rate may decrease to 60%. Given that appropriate training of sonographers and adherence to a standard technique for the measurement of NT is of paramount importance to reduce variability, the Fetal Medicine Foundation has established a certification process. Fetal nuchal edema displayed at 15-20 weeks was described as enlarged nuchal skinfold, and is a less sensitive but more specific marker than nuchal translucency. Webbing of the neck in infants with trisomy 21 may be envisaged as the remainder of nuchal distension.

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“…Na intersecção dos estudos realizados, a pretexto de referência às medidas seriadas da TN e da época mais conveniente ao rastreamento das trissomias autossômicas, Borrell et al 16 concluem serem a 12ª e a 13ª semanas as datas apropriadas em relação à síndrome de Down e à trissomia do 18. Ao reexame (17 fetos com trissomia 18), no transcurso da 10ª para a 20ª semana (média das idades gestacionais na primeira e segunda aferição, respectivamente 13,5 e 16,5 semanas), o espessamento nucal (translucidez) mostrou valores absolutos crescentes.…”

Section: Resultsunclassified

Medida da Translucência Nucal no Rastreamento de Anomalias Cromossômicas

Murta¹,

França²

2002

Rev. Bras. Ginecol. Obstet.

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Objetivo: estudar o método para medida da translucência nucal (TN) e a sua aplicabilidade no rastreamento de anomalias cromossômicas entre a 10ª e a 14ª semanas de gestação. Métodos: foram estudados 1152 fetos consecutivamente. Em 124 casos realizou-se estudo citogenético no material obtido por meio da biópsia de vilosidade coriônica ou da amniocentese e em 1028 o resultado teve como base o fenótipo do recém-nascido. Todos os fetos foram submetidos, além da ultra-sonografia de rotina, à medida da TN. Na análise estatística foram utilizados os testes paramétrico t de Student e análise de variância. Posteriormente, calcularamse: sensibilidade, especificidade, valor preditivo positivo e negativo, probabilidade de falsopositivo e razões de probabilidades. Resultados: foram diagnosticados 23 casos de anomalias cromossômicas na população estudada. Dentre esses, a medida da TN foi maior que o percentil 95 em 16 (sensibilidade de 69,5%). No grupo de fetos normais (1129 casos) a medida da TN foi maior que o percentil 95 em 41 avaliações (especificidade de 96,3%, valor preditivo positivo e negativo de 28,0% e 99,3%, respectivamente, taxa de falso-positvo de 3,7% e razão de probabilidade de 19,1). Conclusão: nossos resultados sugerem que a presença de anomalias cromossômicas pode ser fortemente suspeitada quando existir aumento da TN. Depreende-se que basta a análise quantitativa da medida da TN para categorizar o risco de anomalias cromossômicas no primeiro trimestre. Portanto, ainda que seja necessário treinamento e habilidade do operador, trata-se de método de aplicabilidade clínica.

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Nuchal thickness evolution in trisomy 18 fetuses

Abstract: Nuchal thickening at re-examination was observed in a similar proportion of trisomy 18 fetuses as when initially observed.

Cited by 9 publications

References 12 publications

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Fetal nuchal translucency and skinfold to screen for fetal aneuploidy

Medida da Translucência Nucal no Rastreamento de Anomalias Cromossômicas

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