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单核酸多态微阵列在产前诊断中的重要性

Zonghui Feng¹, Yan Chen¹, Fengmei Yi¹

¹Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University

|May 26, 2025

概括

与型分析相比,单核酸多态 (SNP) 微阵列分析为产前诊断提供了一种优越的方法. 这种先进的技术显著提高了胎儿遗传异常的检测率,有助于做出关键的临床决策.

科学领域:

遗传学遗传学是一种遗传学.
产前诊断在产前诊断
分子生物学分子生物学

背景情况:

与先进的母亲年龄和环境因素相关的先天性形的发病率增加.
产前诊断对于识别胎儿异常至关重要.
传统型分析在检测某些遗传变异方面的局限性.

研究的目的:

在产前评估中评估单核酸多态 (SNP) 微阵列分析的临床效用和诊断准确性.
为了将SNP微阵列分析与常规型分析进行比较,以检测胎儿遗传障碍.

主要方法:

一项涉及425名孕妇的比较研究,他们接受了SNP微阵列和型分析.
在2020年1月至2021年8月期间收集的数据.
统计分析包括费舍尔的精确测试和皮尔森的χ2测试.

主要成果:

在SNP微阵列分析中,成功率为100%,明显高于型分析 (92%).
在SNP微阵列分析中,检测到的阳性病例比型分析 (6.6%) 多10.4%.
在SNP微阵列中,除了通过型检测检测到的体外,还发现了16种额外的致病性拷贝数变异 (CNV),包括重复/删除,嵌合体和异构性丧失 (LOH),除了 karyotyping 检测到的体外.

结论:

SNP微阵列分析是产前遗传评估的高效工具.
这项技术增强了对胎儿遗传病因的识别,并改善了预后评估.
SNP微阵列为有关妊娠延续的临床管理决策提供了更客观的基础.

关键词:

在 SNP 中进行微阵列分析.型分析分析型分析产前诊断产前诊断产前诊断

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