相关实验视频

Updated: Sep 14, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

使用染色体微阵列分析产前诊断和单动脉胎儿的遗传评估:为期七年的单中心回顾性研究

Jianlong Zhuang¹, Nan Huang², Yu'e Chen³

¹Prenatal Diagnosis Center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China. 415913261@qq.com.

BMC pregnancy and childbirth

|July 19, 2025

概括

染色体微阵列分析 (CMA) 显著改善了单一动脉 (SUA) 的胎儿遗传异常的检测. 这种先进的测试揭示了导致SUA的关键遗传因素,并有助于理解相关的怀孕结果.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
胎儿的发育胎儿的发育

背景情况:

由于研究有限,单动脉 (SUA) 的遗传基础尚不清楚.
关于SUA遗传原因和怀孕后果的发表研究很少.

研究的目的:

调查与表现出单一动脉 (SUA) 的胎儿相关的遗传因素.
评估SUA对怀孕结果的影响.
在SUA病例中评估染色体微阵列分析 (CMA) 的诊断实用性.

主要方法:

从2017年9月到2023年4月,对5014名怀孕个体进行了回顾性审查.
分析了123名被诊断为SUA的胎儿,使用了传统的型和CMA.
在所有SUA病例中进行了乳房化以进行遗传分析.

主要成果:

传统的核型鉴定检测到4.88% (6/123) 的SUA病例中的染色体异常.
CMA确定了另外11种病原性复制数变异,这些变异被型化遗漏,包括像沃尔夫-希尔斯霍恩综合征和22q11.21删除等综合征.
在CMA的研究中,比起单独的卡里奥类型化 (P=0.001),其增量诊断收益率为8.94% (11/123).

结论:

染色体微阵列分析 (CMA) 显著提高了检测临床上相关的基因变化在胎儿的SUA.
当SUA作为孤立的发现发生时,CMA特别有价值.
这些发现强调了CMA在识别SUA的遗传贡献者和完善基因型-表型相关性方面的重要性.

关键词:

染色体微阵列分析副本编号变体的变体型分析分析型分析产前诊断在产前诊断.一个单一的带动脉.

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

Karyotyping

Karyotyping

DNA Microarrays

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...