相关实验视频
Updated: Jul 7, 2026

08:04
Murine Fetal Echocardiography
Published on: February 15, 2013
胎儿染色体异常的超声波可检测的标记物
K H Nicolaides1, R J Snijders, C M Gosden
1Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London, UK.
Lancet (London, England)
|September 19, 1992
概括
超声波查可以检测胎儿的染色体异常,提供比单独的母亲年龄更大的影响. 识别特定的胎儿缺陷有助于产前诊断诸如三症18和三症21等疾病.
科学领域:
- 产前诊断 在产前诊断
- 医学遗传学 医学遗传学
- 胎儿医学 胎儿医学
背景情况:
- 对胎儿染色体异常进行基于母亲年龄的查的成功有限.
- 主要的染色体异常常常存在于超声波上可识别的胎儿缺陷.
- 超声波查有可能提高检测率.
研究的目的:
- 评估基于超声波的查对胎儿染色体异常的影响.
- 为了确定与染色体综合征相关的特定胎儿形.
- 为针对性超声波查协议提供指导方针.
主要方法:
- 在超声波检查显示出发育不良或生长迟缓后,对2086名胎儿进行型定型.
- 对特定胎儿缺陷进行详细的超声波评估.
- 基于超声波发现的染色体异常检测率的分析.
主要成果:
- 在14%的病例中检测到染色体异常.
- 与孤立缺陷 (2%) 相比,多系统形的检测率更高 (29%).
- 常见的异常包括三重症18,三重症21,三重症,特纳综合征和三重症13,每个都有特征性的超声检查结果.
结论:
- 超声波查是检测胎儿染色体异常的一个有价值的工具.
- 识别特定的胎儿缺陷可以指导有针对性的查,并改善产前诊断.
- 仅仅依靠母亲的年龄,就会错过大量染色体异常的胎儿.
相关概念视频
Labeling DNA Probes
DNA probes are fragments of DNA labeled with a reporter tag to enable their detection or purification. The resulting labeled DNA probes can then hybridize to target nucleic acid sequences through complementary base-pairing, and may be used to recover or identify these regions.
Radioisotopes, fluorophores, or small molecule binding partners like biotin or digoxigenin, are the most widely used reporter tags for labeling DNA probes. These labels can be attached to the probe DNA molecule via...
Radioisotopes, fluorophores, or small molecule binding partners like biotin or digoxigenin, are the most widely used reporter tags for labeling DNA probes. These labels can be attached to the probe DNA molecule via...
Ultrasonography
Ultrasonography is an imaging technique that uses high-frequency sound waves to visualize the body's internal structures. It is a non-invasive and safe procedure that does not involve the use of ionizing radiation, making it widely used in various medical fields. Ultrasonography is used to study heart function, blood flow in the neck or extremities, certain conditions such as gallbladder disease, and fetal growth and development.
During an ultrasonography procedure, a handheld device called a...
During an ultrasonography procedure, a handheld device called a...

