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在怀孕第一季度产生的产物中的数值和结构染色体异常
Christina Katsidi1, Haroula Tsarouha2, Elisavet Kouvidi2
1Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece; Laboratory of Medical Genetics, National and Kapodistrian University of Athens Athens, Greece.
概括
怀孕早期的复杂染色体异常在老年妇女中更为常见,并导致更早的流产. 这项研究发现,11%的头三个月流产有复杂的遗传问题,双重三症是最常见的.
科学领域:
- 生殖遗传学 生殖遗传学
- 人类胚胎学 人类胚胎学
- 细胞遗传学 细胞遗传学
背景情况:
- 复杂的染色体异常在产品的概念是罕见的,但与先进的母亲年龄和早期的怀孕损失相关.
- 调查这些异常的频率对于了解早期怀孕失败至关重要.
研究的目的:
- 为了确定第一季度自发性流产中复杂染色体异常的频率.
- 探索这些异常,产妇年龄和流产时的妊娠年龄之间的关联.
主要方法:
- 通过细胞遗传或分子技术分析了473个在第一季度中断的组织样本.
- 采用标准GTG带,每个样本至少分析了十个元相.
- 在研究队列中,母亲的平均年龄为39岁.
主要成果:
- 在351个培养样本中,有339个 (97%) 的诊断是可能的.
- 在64%的胚胎中发现了异常焦质型,在89%的胚胎中发现了非复杂异常,在11%的胚胎中发现了复杂异常.
- 复杂的异常与更早的妊娠年龄有关 (p=0.04136).
结论:
- 复杂的染色体异常在39岁以上妇女的胚胎中更为频繁.
- 带有复杂异常的胚胎比没有复杂异常的胚胎早大约一周被堕胎.
- 该研究发现复杂异常的患病率高于之前在文献中报告的复杂异常 (11%) (5-7%).
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