Estudios genéticos en diagnóstico prenatal. Recomendación (2018)

  1. Pilar Carrasco Salas
  2. Clara Gómez González
  3. Carmen Prior
  4. Ana Cuesta Peredo
  5. María Santamaría González
  6. María Reyes Granell Escobar
  7. María José Alcaine Villarroya
  8. Cristina Torreira Banzas
  9. Alfredo Reparaz Andrade
  10. Begoña Ezquieta Zubicaray
Journal:
Revista del laboratorio clínico

ISSN: 1888-4008

Year of publication: 2019

Volume: 12

Issue: 1

Pages: 27-37

Type: Article

DOI: HTTPS://DOI.ORG/10.1016/J.LABCLI.2018.10.001 DIALNET GOOGLE SCHOLAR

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.