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Secuenciación del exoma prenatal: ¿Cuándo el rendimiento diagnóstico alcanza la utilidad clínica?

Alessia Carrer1,2, Francesco Maria Crupano3, Berardo Rinaldi2

  • 1Department of Health Sciences, University of Milan, 20122 Milan, Italy.

Genes
|January 28, 2026
PubMed
Resumen

La secuenciación del exoma prenatal (pES) predice con precisión las condiciones fetales, ayudando en el diagnóstico en el 95% de los casos con anomalías congénitas. Los hallazgos ecográficos tempranos pueden respaldar los resultados de la pES, pero los resultados negativos requieren precaución.

Palabras clave:
utilidad clínicarendimiento diagnósticoanomalías fetalescorrelación genotipo-fenotiposecuenciación del exoma prenatal

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