相关实验视频
Updated: Jan 28, 2026

08:38
Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
38.0K
推进产科护理:下一代有针对性测序在具有结构正常胎儿的怀孕中的作用
Han-Ying Chen1,2, Yi-Ting Wang3, Jessica Kang1
1Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Journal of the Chinese Medical Association : JCMA
|January 27, 2026
概括
一个针对胎儿下一代测序 (NGS) 专家小组在5.16%看似健康的胎儿中发现了关键发现. 这种产前诊断工具为父母的决策提供了宝贵的见解.
科学领域:
- 遗传学 遗传学 是一个
- 产前诊断 在产前诊断
- 下一代测序的测序方法
背景情况:
- 建立一个有针对性的胎儿下一代测序 (NGS) 面板.
- 在超声波正常胎儿中评估其诊断产量.
研究的目的:
- 评估目标胎儿NGS面板的诊断实用性.
- 识别胎儿的遗传状况,超声检测结果正常.
主要方法:
- 对1820个超声波正常胎儿进行了回顾性分析.
- 在2021年6月至2023年6月期间进行的胎儿NGS向面板测试.
主要成果:
- 5.16%的胎儿有病原性疾病; 49.1%的胎儿被确定为异常的载体状态.
- 最常见的疾病:葡萄糖-6-酸盐脱酶 (G6PD) 缺乏 (35例) 和GJB2基因变异 (19例).
- 其他发现包括家族性高胆固醇血症,努南综合征和罕见的遗传疾病.
结论:
- 胎儿NGS向面板是有效的在看似正常的胎儿产前诊断.
- 强调谨慎选择变异和基因咨询对临床相关性的重要性.
- 支持潜在父母在基因查方面做出明智的决策.
相关概念视频
Next-generation Sequencing
98.4K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
98.4K
Development of the Sexual Organs in the Embryo and Fetus
3.5K
Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
3.5K
Normal Stress
1.4K
Normal stress is a type of stress that occurs when forces act perpendicular, or normal, to a material's cross-sectional area. This stress often arises in structures when subjected to axial loading, which is the application of force along the axis of an object. A practical example of this can be found in bridge truss members.
When a rod is under axial loading, the internal forces and corresponding stress are normal to the plane of the section, so it is termed normal stress. It's important to...
When a rod is under axial loading, the internal forces and corresponding stress are normal to the plane of the section, so it is termed normal stress. It's important to...
1.4K
Normal Distribution
17.1K
The normal, a continuous distribution, is the most important of all the distributions. Its graph is a bell-shaped symmetrical curve, which is observed in almost all disciplines. Some of these include psychology, business, economics, the sciences, nursing, and, of course, mathematics. Some instructors may use the normal distribution to help determine students’ grades. Most IQ scores are normally distributed. Often real-estate prices fit a normal distribution. The normal distribution is...
17.1K
Normal and Shear Force
3.3K
When a beam is subjected to different loads, such as weight, pressure, or other external forces, internal forces are generated within the beam. These forces can have a significant impact on the overall stability and strength of the structure. Engineers use various methods to analyze and determine the magnitude and direction of these internal forces. One common technique used to determine internal forces in beams is the method of sections. This method involves considering an imaginary point or...
3.3K
Applications of Normal Distribution
9.4K
The normal distribution is a useful statistical tool. One of its practical applications is determining the door height after considering the normal distribution of heights of persons, such that many can pass through it easily without striking their heads. The normal distribution can also determine the probability of a person having a height less than a specific height.
The heights of 15 to 18-year-old males from Chile from 1984 to 1985 followed a normal distribution. The mean height is 172.36...
The heights of 15 to 18-year-old males from Chile from 1984 to 1985 followed a normal distribution. The mean height is 172.36...
9.4K

