Estudios genéticos en diagnóstico prenatal. Recomendación (2018)
- Pilar Carrasco Salas
- Clara Gómez González
- Carmen Prior
- Ana Cuesta Peredo
- María Santamaría González
- María Reyes Granell Escobar
- María José Alcaine Villarroya
- Cristina Torreira Banzas
- Alfredo Reparaz Andrade
- Begoña Ezquieta Zubicaray
ISSN: 1888-4008
Year of publication: 2019
Volume: 12
Issue: 1
Pages: 27-37
Type: Article
More publications in: Revista del laboratorio clínico
Abstract
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.