从零星和反复流产的胚胎的染色体异常:三级中心的经验
1Department of Medical Genetics, Eskisehir City Hospital, 71 Evler Mahallesi, Çavdarlar Sk., Odunpazarı, Eskişehir, 26080, Turkey. dr.aycacelikmakas@hotmail.com.
Molecular biology reports
|May 29, 2025
概括
胎儿染色体异常是流产的主要原因之一. 这项研究发现,自发性和复发性流产之间的染色体异常 (如单体45,X) 有显著差异,特别是在年长的母亲身上.
科学领域:
- 遗传学 遗传学 是一个
- 生殖医学 生殖医学
- 细胞遗传学 细胞遗传学
背景情况:
- 自发流产 (SA) 影响10-15%的怀孕,胎儿染色体异常导致近一半.
- 重复流产 (RPL) 被定义为20周前两次或更多次流产.
- 了解SA和RPL的染色体异常模式对于生殖健康至关重要.
研究的目的:
- 确定自发性流产 (SA) 和复发性流产 (RPL) 中染色体异常的类型和频率.
- 在SA和RPL组之间进行比较细胞遗传分析.
- 研究母亲年龄对流产时染色体异常的影响.
主要方法:
- 使用标准细胞遗传学和定量光PCR (QF-PCR) 的176次堕胎 (4-20周妊娠期) 的型分析.
- 基于流产类型 (SA vs. RPL) 和母亲年龄 (<35 vs. ≥35岁) 的比较分析.
- 染色体异常频率的统计评估及其与临床因素的相关性.
主要成果:
- 在45.5%的病例中 (n=80) 发现了异常的心脏类型.
- 自体三症是最常见的异常 (n=35).
- 单体45,X显示了SA和RPL (p=0.003) 之间的显著差异,而晚期的母亲年龄 (≥35) 与形积分 (p=0.003) 有关.
结论:
- 胎儿染色体异常仍然是流产的重要原因.
- 母亲年龄和染色体异常类型在自发性流产和反复性流产之间有所不同.
- 这项研究提供了土耳其SA和RPL的第一个比较细胞遗传分析.
更多相关视频
12:32Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
2.6K
05:16Multiplexed Fluorescent Immunohistochemical Staining of Four Endometrial Immune Cell Types in Recurrent Miscarriage
Published on: August 4, 2021
3.8K
相关概念视频
02:57Meiosis vs. Mitosis
69.4K
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...
69.4K
01:29Nondisjunction
81.8K
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.
81.8K
01:21Nondisjunction
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
01:07Teratogenicity
4.0K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.0K
01:17Karyotyping
68.1K
Overview
68.1K