产前诊断的非综合性头骨突发症:一个范围审查
Gwendolyn E Daly1, Alexa Stefanko1, Catherine Henning1
1Division of Plastic and Reconstructive Surgery, Oregon Health & Science University, Portland, OR, USA.
概括
产前诊断的骨突症变得越来越可行. 本综述审查了关于在出生前诊断非综合征性关节缩症的文献,突出了改善患者护理的方法和潜力.
科学领域:
- 医疗成像医学成像
- 胎儿医学 胎儿医学
- 儿科手术 儿科手术
背景情况:
- 头骨突症是头骨早期融合的疾病,很少在产前诊断出来.
- 早期诊断可以显著改善患者的治疗结果,并简化护理途径.
- 医疗技术的进步正在增加产前检测的可行性.
研究的目的:
- 系统地审查现有的关于非综合征性骨突症的产前诊断的文献.
- 确定目前在产前成像研究中使用的诊断标准和方法.
主要方法:
- 在Embase,Cochrane和PubMed中使用PRISMA指南进行了全面的文献搜索.
- 专注于综合征性关突症的研究被排除在分析之外.
- 包含的文章讨论了使用各种成像技术进行非综合征性骨突症的产前诊断.
主要成果:
- 文献搜索产生了2129篇文章,其中12篇符合最终分析的纳入标准.
- 在12项研究中,有10项 (83.3%) 使用胎儿生物识别数据 (例如双双体直径,头骨指数) 来评估胎儿头部形状.
- 两项研究 (16.7%) 使用了特定的超声波标记,如"大脑影像标志",一项研究引入了对斜突的定量查方法.
- 在所有包括的研究中,在怀孕的第二或第三个三个月内可以实现产前诊断.
结论:
- 在产前诊断非综合征性关节缩症是明显可行的现有技术.
- 建立标准化查协议和超声波诊断指标对于推进骨突症护理至关重要.
- 改善产前检测具有优化患者治疗结果和护理管理的巨大潜力.
更多相关视频
02:42Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
227
08:22A 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
8.6K
相关概念视频
Sutures of the Skull
6.2K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
6.2K
Nondisjunction
3.7K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.7K
Meiosis I
192.9K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
192.9K
Cranial Bones: Superior and Posterior View
1.9K
The superior view of the cranium shows the frontal and paired parietal bones.
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
1.9K
Neurulation
41.6K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
41.6K
Karyotyping
57.3K
Overview
57.3K
