Pilar Carrasco Salas , Clara Gómez González , Carmen Prior de Castro , Ana Cuesta Peredo , María Santamaría González , Reyes Granell Escobar , María José Alcaine , Cristina Torreira Banzas , Alfredo Reparaz Andrade , Begoña Ezquieta Zubicaray
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Estudios genéticos en diagnóstico prenatal. Recomendación (2018)
The term prenatal diagnosis includes all diagnostic modalities aimed at detecting a congenital anomaly during pregnancy that includes structural or functional disorders. A percentage of them are due to genetic factors. This document intends to detail the current indications of invasive and non-invasive tests, describe the laboratory tests used in the prenatal diagnosis of genetic alterations, and propose work schemes for the study of these genetic alterations.
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