相关实验视频

Updated: Jul 25, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

产前查和基因异常的诊断:SEGO,SEQC,AEDP的共识建议

Belén Prieto^1,2, Begoña Adiego^3,4, Javier Suela^5,6

¹Department of Clinical Biochemistry, Hospital Universitario Central de Asturias, Department of Biochemistry and Molecular Biochemistry, University of Oviedo, Avda Roma s/n - 33010 Oviedo, Spain.

Advances in laboratory medicine

|June 26, 2023

概括

本文提出了关于产前查和基因异常诊断的共识建议,并提出了质量指标,以统一国家标准并改善产前护理.

科学领域:

医学遗传学医学遗传学
生殖医学生殖医学
公共卫生公共卫生

背景情况:

产前查和基因异常的诊断是生殖保健的关键组成部分.
当前的做法可能在不同地区缺乏标准化的绩效标准和质量指标.
需要统一的国家准则是显而易见的,以确保一致和高质量的产前护理.

研究的目的:

为产前查和诊断遗传异常制定基于共识的建议.
为生物化学,超声波和遗传检测过程提出一套评估指标.
统一产前遗传诊断的国家绩效标准和质量指标.

主要方法:

科学协会 (SEGO,SEQC,AEDP) 制定基于共识的建议.
关于产前查和诊断程序的具体评估指标的建议.
包括对侵入性产前诊断程序的建议,重点是样本采集和遗传检测.

主要成果:

已经制定了一套关于产前查和诊断的全面建议.
拟议的质量指标旨在加强生物化学,超声波和遗传检测的评估.
提供了侵入性程序的指导方针,包括样品处理和遗传分析.

结论:

强烈建议制定统一的国家产前查战略.
定期的审计和协议的修订对于整合具有成本效益的技术至关重要.
实施这些建议和指标将提高全国性产前遗传护理的质量和一致性.

关键词:

在循环中循环的无细胞DNA.综合查综合查综合查侵入性测试是一种侵入性测试.额头的半透明度额头的半透明度

更多相关视频

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

相关概念视频

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...