2010
DOI: 10.1002/pd.2396
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Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

Abstract: Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, u… Show more

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Cited by 95 publications
(102 citation statements)
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References 132 publications
(121 reference statements)
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“…Essa diferença pode ser explicada pelos diferentes pontos de corte utilizados na classificação de TN aumentada e no fato de que neste estudo as pacientes que optaram pela pesquisa do cariótipo fetal apresentavam a TN em um valor mais elevado (média 5,5). Aproximadamente 4% das pacientes rastreadas para aneuploidias no primeiro trimestre apresentaram TN acima do P95, o que foi concordante com outros estudos 17,33 , porém discordante de Bilardo et al 29 , que encontraram 8,6% de TN acima desse percentil. Essa diferença poderia ser explicada pela média de idade mais elevada das pacientes nesse grupo.…”
Section: Discussionunclassified
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“…Essa diferença pode ser explicada pelos diferentes pontos de corte utilizados na classificação de TN aumentada e no fato de que neste estudo as pacientes que optaram pela pesquisa do cariótipo fetal apresentavam a TN em um valor mais elevado (média 5,5). Aproximadamente 4% das pacientes rastreadas para aneuploidias no primeiro trimestre apresentaram TN acima do P95, o que foi concordante com outros estudos 17,33 , porém discordante de Bilardo et al 29 , que encontraram 8,6% de TN acima desse percentil. Essa diferença poderia ser explicada pela média de idade mais elevada das pacientes nesse grupo.…”
Section: Discussionunclassified
“…Outros estudos confirmam achado 16,18,24,25,29 . Quanto à avaliação pós-natal, ela foi normal (nascidos vivos e bem) em 92,5%.…”
Section: Discussionunclassified
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“…This screening outcome must take into account a broad spectrum of potential sub microscopic chromosomal abnormalities that can lead to extremely severe conditions. 64 Here too, the objective is to provide the pregnant woman (and her partner) with the best possible information about potential foetal abnormalities, allowing a well-considered decision to be made about whether or not to continue the pregnancy. If the decision is made to carry the pregnancy to term, obstetric and perinatal care can be offered based on the outcomes of the diagnostic testing in order to provide the child with optimal support.…”
Section: Genome-wide Prenatal Diagnostic Testingmentioning
confidence: 99%
“…Sonographic measurement of fetal nuchal translucency (NT) thickness at 11-13 weeks' gestation is the most important single marker for identification of fetuses at high risk of aneuploidies 1 , structural defects 2 and genetic syndromes 3 . Measurement of NT thickness should be performed on a mid-sagittal view of the fetal profile, which is defined by presence in the image of the tip of the nose and the rectangular-shaped palate anteriorly, the translucent diencephalon and the nuchal membrane posteriorly 4 .…”
mentioning
confidence: 99%