在产后带血液样本中的母细胞污染意味着遗传错误诊断的风险很低
Sanne P Smeekens1, Maike Leferink1, Helger G Yntema1
1Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
Prenatal diagnosis
|May 23, 2024
概括
孕产妇细胞污染 (MCC) 在带血液样本中的4%发生,在遗传检测中存在误诊的风险. 常规的MCC测试对于准确的产前和产后遗传诊断至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 孕产妇细胞污染 (MCC) 是产前遗传检测中已知的风险.
- 在产前/产后遗传测试中对MCC的认识和常规测试,特别是带血 (CB) 的基因测试,不太确立.
研究的目的:
- 在带血液 (CB) 和带样本中调查母细胞污染 (MCC) 的发生率.
- 评估这些样本是否适合用于诊断基因测试.
主要方法:
- 从1995年至2021年期间收集的236个带CB和带样本的DNA分析.
- 在诊断实验室环境中评估MCC率.
主要成果:
- 在4%的带CB样本和一个带样本中检测到母细胞污染 (MCC).
- 由于MCC导致的1型肌性缩症的错误阳性诊断案例突显了变种丰富测试的敏感性.
结论:
- 带CB和带样本适合使用适当的收集方法进行基因检测,因为MCC率较低.
- 这些样本的常规MCC测试对于临床医生和诊断实验室来说至关重要,以防止误诊.
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