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English to Spanish: Traducción del inglés al español: “The trisomy 18 syndrome” (Ana Cereda y John C Carey) General field: Medical
Source text - English The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%.
Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition.
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Translation - Spanish La trisomía 18, también conocida como síndrome de Edwards, es un trastorno cromosómico frecuente que se debe a la presencia de un cromosoma 18 adicional, ya sea trisomía completa, trisomía en mosaico o trisomía 18q parcial. Este trastorno es la segunda trisomía autosómica más frecuente después de la trisomía 21. Se estima que la prevalencia de nacidos vivos es de entre 1/6 000 y 1/8 000, pero la prevalencia global es mayor (1/2 500 - 1/2 600) debido a la alta frecuencia de pérdida fetal y la interrupción del embarazo después del diagnóstico prenatal. La prevalencia de la trisomía 18 aumenta a medida que avanza la edad materna. El riesgo de recurrencia de una familia con un hijo con trisomía 18 completa es de alrededor del 1 %.
Actualmente, la mayoría de casos de trisomía 18 se diagnostican durante la etapa prenatal, a partir de un cribado basado en la edad materna, análisis de marcadores séricos maternos o la detección de alteraciones ecográficas (p. ej., aumento del grosor de la translucidez nucal, retraso del crecimiento, quiste del plexo coroideo, superposición de los dedos de las manos y cardiopatía congénita). El patrón reconocible del síndrome consiste en alteraciones mayores y menores, deficiencia del crecimiento prenatal y postnatal, un mayor riesgo de mortalidad neonatal e infantil, y discapacidad cognitiva y psicomotora marcada. Entre las anomalías menores características del síndrome se encuentran rasgos craneofaciales característicos,
puño cerrado con dedos de las manos superpuestos, uñas pequeñas, pulgares
subdesarrollados y esternón corto. La presencia de malformaciones mayores es frecuente, y las más habituales son las anomalías renales y cardíacas. Los problemas de alimentación son constantes y puede ser necesaria la nutrición enteral.
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Bachelor's degree - Universitat Pompeu Fabra
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Years of experience: 12. Registered at ProZ.com: Jun 2015.
English to Spanish (Universitat Pompeu Fabra) French to Spanish (Universitat Pompeu Fabra) English to Catalan (Universitat Pompeu Fabra) French to Catalan (Universitat Pompeu Fabra) Spanish to Catalan (Universitat Pompeu Fabra)
Catalan to Spanish (Universitat Pompeu Fabra)
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