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
{"title":"Estudios genéticos en diagnóstico prenatal. Recomendación (2018)","authors":"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","doi":"10.1016/j.labcli.2018.10.001","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":101105,"journal":{"name":"Revista del Laboratorio Clínico","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.labcli.2018.10.001","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista del Laboratorio Clínico","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1888400818300850","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
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.
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