相关实验视频

Updated: Jul 11, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

染色体微阵列分析与型分析相结合,是检测具有高风险指标的孕妇的强大工具

Guanhua Qian¹, Liuyun Cai¹, Hong Yao¹

¹Obstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing Medical University, No. 74 Linjiang Road, Yuzhong District, Chongqing, 400010, China.

BMC pregnancy and childbirth

|November 11, 2023

概括

染色体微阵列分析 (CMA) 为胎儿染色体异常提供了比传统方法更准确的产前诊断. 结合CMA与karyotyping可以提高遗传诊断质量和产前咨询.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
医学诊断医学诊断医学诊断

背景情况:

传统的产前诊断方法,如型和FISH有局限性.
染色体微阵列分析 (CMA) 为克服这些诊断挑战提供了潜在的进步.
本研究评估了CMA在西南中国胎儿染色体异常检测中的临床实用性.

研究的目的:

评估染色体微阵列分析 (CMA) 对胎儿染色体异常的诊断价值.
为了比较CMA与特定地理区域的传统方法的疗效.
调查高风险指标对积体检测率的影响.

主要方法:

对3336个高风险怀孕的产前样本 (羊水/带血) 的回顾性分析.
2018年6月至2023年1月期间采集了样本.
测试包括CMA (3336例) 和型定型 (3222例).

主要成果:

分别在4.43%和2.44%的单个高风险病例中检测到形状和致病副本数变异 (CNV).
在多个高风险病例中,分别在6.82%和2.12%的患者中检测到动脉积分和致病性CNV.
积体病率与晚年母亲年龄和增加的NT值有显著的相关性,综合指标显示了更高的检测率.

结论:

建议在产前诊断中结合CMA和卡里奥类型的应用.
这种方法提供了准确的遗传诊断.
它提高了孕妇预产遗传咨询的质量.

关键词:

染色体微阵列分析 (CMA)副本数量变化 (CNV) 的变化型分析分析型分析产前诊断在产前诊断.

更多相关视频

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

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...