El síndrome de Goldenhar, o espectro óculo-aurículo-vertebral, es un síndrome congénito caracterizado por alteraciones en diferentes grados de las estructuras faciales. En ocasiones también existen alteraciones de la columna vertebral y otros defectos óseos, malformaciones cardíacas y anomalías del sistema nervioso central. Un aspecto importante es que, en la mayoría de los casos, estas lesiones son unilaterales. La causa es desconocida. El diagnóstico prenatal solo es posible mediante la identificación de alteraciones morfológicas, ya que no existen marcadores genéticos para el diagnóstico. La enfermedad no es mortal, pero las alteraciones cráneo-faciales graves pueden poner en peligro la vida en el periodo posnatal. El tratamiento consiste en cirugía plástica reconstructiva. Se presenta un caso de diagnóstico prenatal del síndrome de Goldenhar.
Nuchal translucency is the hypoechoic region of subcutaneous fluid accumulation at the back of the fetal neck, at the level of the cervical spine, between the skin and soft tissues. Its measurement during the first trimester is part of the prenatal screening protocol for trisomies 21, 18 and 13. Between 11-13.6 weeks of gestation, its increase above the 95th percentile places the fetus at greater risk of congenital chromosomal and structural abnormalities. The individual measurement of nuchal translucency is a partially effective detection tool but its combination with biochemical markers increases its ability to predict the risk of Down syndrome and other fetal alterations. In cases of fetuses without aneuploidies, their increase is associated with adverse results. The objective of this article was to review the current evidence on the clinical significance of ultrasound assessment of fetal nuchal translucency. Keywords: Fetal nuchal translucency, Ultrasound, Fetal aneuploidies, Chromosomopathies, Congenital heart anomalies, Prenatal high risk, Prenatal diagnosis
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