产前检测与遗传性癌症风险相关的基因变异:实验室经验和考虑
Lynne S Rosenblum1, Stephanie M Auger1, Hui Zhu1
1Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts.
The Journal of molecular diagnostics : JMD
|January 3, 2024
概括
遗传性癌症风险 (HCR) 的产前检测正在扩大. 我们的研究发现,4.8%的产前标本涉及HCR,强调需要更新关于基因测试这个不断变化的领域的指导.
科学领域:
- 生殖遗传学 生殖遗传学
- 癌症遗传学 癌症遗传学
- 分子诊断学 分子诊断学
背景情况:
- 产前分子遗传检测是遗传性疾病的标准.
- 测试的扩展包括遗传性癌症风险 (HCR) 基因和癌症风险状况.
- 现有的指南缺乏HCR产前检测的具体建议.
研究的目的:
- 确定遗传性癌症风险 (HCR) 的产前检测的流行率.
- 评估 HCR 的范围和在产前标本中进行 lysosomal 储存疾病 (LSD) 测试.
- 为 HCR 产前检测提供专业指导.
主要方法:
- 对1345个连续的产前标本进行家族变异特异性测试的审查.
- 标识和分类具有已知或可能的HCR组件的标本.
- 标识检测 lysosomal存储疾病 (LSD) 变种的标本.
主要成果:
- 4.8% (65/1345) 的标本具有HCR组件.
- 15.6% (210/1345) 的标本被测试了溶酶体储存疾病 (LSD).
- 标本被分为五个不同的组进行分析.
结论:
- 对HCR的产前检测越来越普遍.
- 对HCR产前检测的经验为开发临床指导提供了指标.
- 需要进一步考虑HCR和相关疾病的产前检测.
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