相关实验视频

Updated: Jul 6, 2025

In Utero Intra-cardiac Tomato-lectin Injections on Mouse Embryos to Gauge Renal Blood Flow

In Utero Intra-cardiac Tomato-lectin Injections on Mouse Embryos to Gauge Renal Blood Flow

Published on: February 4, 2015

双重脏的胎儿的产前诊断和结果

Chunling Ma^1,2, Ruibin Huang², Fang Fu²

¹The First School of Clinical Medicine, Southern Medical University, Guangzhou, China.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

|January 8, 2024

概括

染色体微阵列分析 (CMA) 和全外体序列测序 (WES) 有助于确定胎儿双重的遗传原因. 这些遗传测试显著影响了关于终止怀孕的决定,有助于产前诊断和遗传咨询.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
泌尿器科泌尿器科泌尿器科泌尿器科

背景情况:

双重是一种常见的尿道系统的先天性异常.
准确的产前诊断和遗传评估对于管理双重脏至关重要.
了解双重的遗传基础可以为遗传咨询和临床管理提供信息.

研究的目的:

评估染色体微阵列分析 (CMA) 和全外体序列测序 (WES) 在双重脏胎儿的诊断效用.
调查双重病例中遗传发现和围产期结果之间的关联.
评估基因测试对临床决策的影响,例如终止妊娠.

主要方法:

通过产前超声波对63名被诊断患有双重脏的胎儿进行了回顾性队列研究.
临床特征分析,遗传测试结果 (CMA和WES) 和怀孕结果.
基于基因检测结果的妊娠终止率的统计比较.

主要成果:

在11.1%的病例中,CMA检测到了临床上显著的变异,在17q12,17p13.3,22q11.2.2.等区域中确定了致病副本数变异 (CNV).
在50%的分析病例中,WES发现了致病性单基因变异,包括KMT2D,SMPD4和FANCI的突变.
在检测到临床显著变异的病例中,妊娠终止率明显高 (90.0%),相比于负面结果的病例 (16.7%).

结论:

CMA和WES是胎儿双重脏的产前诊断的宝贵工具.
遗传检测为遗传咨询和双重的临床管理提供了关键信息.
识别致病变体有助于了解双重病的病因和预后,影响生殖决策.

关键词:

染色体微阵列分析分析双重脏双重脏遗传咨询遗传咨询遗传咨询在产前诊断产前诊断整体外基因组测序的测序

更多相关视频

Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography

Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography

Published on: June 21, 2024

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

相关概念视频

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...

Nephrons

Nephrons

The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...

Kidney Structure

Kidney Structure

The kidneys are two large bean-shaped organs located in the upper abdomen. They filter the blood several times a day to remove toxins and rebalance water and electrolytes of the circulatory system via the renal veins. The kidneys receive blood directly from the heart via the renal arteries. These arteries enter the kidney at the hilum, the concave surface of the bean, where they branch and divide into smaller vessels and capillaries.