低设耳朵:胎儿染色体异常的新标志物
Elisabet Baldrich-Martin1,2,3, Gloria Jalencas1, Isabel Mazano1
1Obstetrics and Gynecology Primary Care Center (ASSIR) Sabadell, Inst,tut Catala de la Salut, Barcelona, Spain.
Fetal diagnosis and therapy
|November 11, 2025
概括
通过2D超声波检测到的低设耳朵 (LSE) 是一个有希望的表现,作为染色体异常的产前标记. 将LSE与现有查相结合,可以提高检测特异性,因此需要进一步调查.
科学领域:
- 产前诊断 在产前诊断.
- 医学成像医学成像
- 遗传学 是一个遗传学.
背景情况:
- 在产前检测染色体异常对于临床管理至关重要.
- 需要新的超声波标记器来提高查准确度.
- 低设耳朵 (LSE) 已经与遗传性疾病有关.
研究的目的:
- 评估低设耳朵 (LSE) 作为2D超声波标记物的临床实用性,用于产前检测染色体异常.
- 评估LSE在识别患有形积分症的胎儿方面的表现.
主要方法:
- 一个多中心的队列研究1331个单独怀孕.
- 在2D超声波中使用胎儿头部的新型轴平面来定义LSE.
- 评估了观察者内部和观察者间的变异性;单独评估有效性和形查.
主要成果:
- 在99%的胎儿中可靠地评估了LSE,观察者内部和观察者间的一致性很高.
- 在2.3%的胎儿中检测到LSE,包括86%的染色体异常和100%的其他遗传异常.
- 将LSE与形形查结合起来,维持了检测率,同时将特异性提高到100%.
结论:
- 低设耳朵 (LSE) 显示出作为2D超声波标记器的潜力,用于产前检测染色体异常.
- 需要对更大,高风险人群进行进一步的研究,以确认其在查方案中包含的临床实用性.
相关概念视频
Nondisjunction
4.8K
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...
4.8K
Karyotyping
68.0K
Overview
68.0K
Meiosis vs. Mitosis
69.2K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
69.2K
Lampbrush Chromosomes
8.6K
In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
8.6K
Euchromatin
8.8K
The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions take up more dye, appearing darker, while the less-compact areas take up less dye and appear lighter. Based on the compaction level, chromatins are classified into two primary forms – euchromatin and heterochromatin.
Euchromatin is the less dense region of the chromatin and stains lighter. Euchromatin contains histone H3 extensively...
Euchromatin is the less dense region of the chromatin and stains lighter. Euchromatin contains histone H3 extensively...
8.8K
Neurulation
45.1K
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...
45.1K


