胎儿马赛克,是否应该总是进行常规型?
Linjuan Su1, Xiaoqing Wu1, Bin Liang1
1Fujian Provincial Matenity and Children's Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
The journal of obstetrics and gynaecology research
|October 16, 2023
概括
染色体微阵列分析 (CMA) 和型测定显示胎儿马赛克检测的结果不一致. 结合这两种方法可以提高诊断准确度,识别染色体异常.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 遗传学 是一个
- 细胞遗传学 细胞遗传学
背景情况:
- 经典的细胞遗传学和基于DNA的分子技术可以为胎儿的马赛克产生不一致的结果.
- 从培养或非培养的胎儿细胞中检测马赛克主义存在挑战.
- 了解诊断方法的局限性对于准确的产前诊断至关重要.
研究的目的:
- 评估染色体微阵列分析 (CMA) 和胎儿马赛克的型化之间不一致的诊断结果.
- 评估CMA和型的技术可用性和局限性,用于诊断马赛克主义.
- 为了比较CMA和karyotyping在检测各种类型的胎儿染色体异常方面的有效性.
主要方法:
- 一项回顾性研究分析了75名被诊断为马赛克的胎儿.
- 对比了型分析和CMA的结果.
- 进一步分析了这两种方法之间的差异和一致性.
主要成果:
- 75个中42个 (56%) 的CMA结果与型相一致.
- 在75个 (44%) 案例中,在33个案例中观察到差异.
- 不一致的结果涉及性染色体异常,自体形形状和基因组重组.
结论:
- 对于检测马赛克主义,CMA和型都有明显的优点和缺点.
- 差异来自于特定方法的能力和分析的细胞群.
- 将CMA与卡里奥类型结合起来,可以提高胎儿马赛克的检测率.
更多相关视频
10:14Detection of Inter-chromosomal Stable Aberrations by Multiple Fluorescence In Situ Hybridization mFISH and Spectral Karyotyping SKY in Irradiated Mice
Published on: January 11, 2017
10.0K
11:08Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
1.1K
相关概念视频
Karyotyping
61.5K
Overview
61.5K
Meiosis vs. Mitosis
56.8K
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...
56.8K
Nondisjunction
75.7K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
75.7K
X-Inactivation
38.6K
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
38.6K
Meiosis I
193.7K
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...
193.7K
The Ratio of X Chromosome to Autosomes
8.6K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
8.6K
