相关实验视频

Updated: Jun 13, 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

对14q11.2微切除的胎儿进行基因分析超声波异常中的微切除

Yan Zhang, Kun Lin, Li-Na Zeng

Clinical laboratory

|September 11, 2024

概括

在一个胎儿中发现了一种罕见的14q11.2微切除,该胎儿患有鼻透光和胸膜囊. 这一遗传发现有助于诊断子宫内生长迟缓并指导未来的怀孕.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
胎儿医学胎儿医学

背景情况:

研究了一位胎儿,超声波显示出异常:缩的部半透明度 (NT) 和状囊.
旨在确定这些胎儿异常的潜在遗传原因.

研究的目的:

通过超声波检测到的胎儿异常的遗传基础.
为受影响家庭提供准确的产前诊断和遗传咨询.

主要方法:

收集了胎儿羊水和母亲外周血液样本.
进行了G-banding karyotype分析和单核酸多态阵列 (SNP-array) 检测.

主要成果:

在胎儿和父母身上观察到正常的染色体胆型.
在SNP-array中发现胎儿在14q11.2处出现了de novo 277 kb的微切除.
终止后的诊断证实了胎儿的大脑.

结论:

确认了14q11.2微切除与子宫内生长迟缓相关的产前诊断.
这些遗传发现为计划生育和随后的怀孕提供了关键的指导.

更多相关视频

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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

Teratogenicity

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...