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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2005, Número 4

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Rev Biomed 2005; 16 (4)


Marcadores bioquímicos séricos para el tamizaje del síndrome de Down.

Baluja-Conde IB, Rodríguez-López MR, Zulueta-Rodríguez O, Ruiz-Escandón B, Bermúdez-Velásquez S

Idioma: Español
Referencias bibliográficas: 157
Paginas: 259-272
Archivo PDF: 74.85 Kb.


RESUMEN

El síndrome de Down es un desorden que implica una copia extra del cromosoma 21 y es la principal aneuploidía autosómica, en la cual los individuos afectados sobreviven más allá de la infancia. Se caracteriza por el retraso mental y varias malformaciones congénitas.
La prevalencia de esta enfermedad varía desde 1:40 hasta 1:900 nacimientos. El riesgo de la embarazada de portar un feto con síndrome de Down depende de varios factores, incrementándose éste a medida que aumenta la edad materna.
Los métodos utilizados para detectar esta enfermedad se basan en pruebas realizadas al feto mediante técnicas invasivas o la medición de índices del desarrollo fetal mediante técnicas no invasivas. Los más empleados son la determinación y cuantificación en suero de varios marcadores bioquímicos tales como: la alfafetoproteína (AFP), la hormona gonadotropina coriónica humana (hCG), la subunidad β libre de la hCG, la inhibina-A y el estriol no conjugado, cuyas concentraciones aumentan o disminuyen dependendiendo de si corresponden o no a un feto con esta anomalía.
En este artículo se revisan las características principales de esta enfermedad, los métodos de diagnóstico empleados y los marcadores bioquímicos presentes en el suero que ofrecen mayor confiabilidad y detectabilidad empleados en el tamizaje del síndrome de Down.


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