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染色体微阵列分析在第三季度胎儿异常的诊断产量

Eyal Elron^1,2,3,4, Idit Maya^3,4, Noa Shefer-Averbuch^2,3,4,5

¹Department of Neonatology, Schneider Children's Medical Center, Petah Tikva, Israel.

American journal of perinatology

|April 30, 2024

概括

染色体微阵列分析 (CMA) 对第三个月的胎儿异常很有价值,对于显著的副本数变化 (CNVs) 产生6.2%. 这种方法检测了可能被非侵入性产前检测 (NIPT) 遗漏的发现,突出了遗传咨询的重要性.

科学领域:

产前诊断在产前诊断
医学遗传学医学遗传学
胎儿医学胎儿医学

背景情况:

第三个月的胎儿异常带来了诊断上的挑战.
鉴定遗传原因对于管理和咨询至关重要.

研究的目的:

评估染色体微阵列分析 (CMA) 的诊断产量,以检测第三个三个月检测到的胎儿异常.
将CMA发现与非侵入性产前检测 (NIPT) 和超声波相关性进行比较.

主要方法:

从怀孕28周开始,对28周怀孕的乳液化病例医疗记录的回顾性审查.
包括28周之前未检测到超声波发现的怀孕.
对染色体微阵列 (CMA) 的分析结果为复制数变异 (CNVs).

主要成果:

对于临床显著的CNVs,整体CMA诊断收益率为6.2% (30/482).
多重形 (16.4%) 和单个异常 (7.3%) 的产量更高.
CMA确定了可能被NIPT遗漏的发现,CMA和超声波发现之间有80%的一致性.

结论:

CMA是诊断晚期发病的胎儿异常的宝贵工具,在第三个三个月检测到.
在检测显著的CNV方面,CMA提供了比NIPT更高的诊断产量.
遗传咨询对于管理已识别的CNVs的怀孕至关重要.

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