相关实验视频

Updated: Jun 4, 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

副本数变异分析在产前诊断的布莱克囊囊囊中的作用

Cuixia Guo¹, Lijuan Sun², Yan Liu³

¹Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.

BMC pregnancy and childbirth

|December 20, 2024

概括

副本数变异 (CNV) 分析有助于对布莱克囊囊囊 (BPC) 的产前诊断,特别是在非孤立的病例中. 虽然对于单独的BPC来说价值不大,但它仍然可以表明形积分风险.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
胎儿成像 - 胎儿成像

背景情况:

布莱克囊囊囊囊 (BPC) 是一种后异常,与产前形积分风险有关.
在BPC病例中报告了遗传异常,包括副本数变异 (CNVs) 和综合征.

研究的目的:

评估在产前BPC病例中CNV分析的附加诊断和预后价值.

主要方法:

六年来BPC案件的回顾性审查.
基于成像,分类成隔离和非隔离组.
使用型,染色体微阵列分析 (CMA) 或CNV测序 (CNV-seq) 的遗传分析.

主要成果:

在22名BPC患者中,7名 (31.8%) 患有染色体异常,包括动脉增生和致病性CNVs.
相关异常通常包括胎儿心脏,中枢神经系统和四肢异常.
非孤立的BPC比孤立的BPC (38.2%) 更频繁 (61.8%).

结论:

在非隔离的BCC中,CNV分析为产前诊断和预后提供了重要的额外信息.
它的价值在分离的BPC中是有限的,但分离的BPC可以作为形积分症的标志物.
基因分析,包括CNV检测,对于全面的BPC评估至关重要.

关键词:

布莱克的囊囊囊囊副本数量变化的变化胎儿胎儿胎儿胎儿胎儿遗传学是一个遗传学.后腔形异常后腔异常超声波超声波是指超声波的使用.

更多相关视频

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

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

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Karyotyping

Karyotyping