产前诊断的遗传学研究。建议(2018年)

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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引用次数: 1

摘要

产前诊断一词包括旨在检测怀孕期间的先天性异常(包括结构或功能障碍)的所有诊断方式。其中一部分是由遗传因素造成的。本文件旨在详细说明侵入性和非侵入性检查的当前适应症,描述用于遗传改变产前诊断的实验室检查,并提出研究这些遗传改变的工作计划。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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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