与产前微阵列相比,全基因组cfDNA的复制数变异的实验室性能
Erica Soster1, John Tynan2,3, Clare Gibbons4
1Labcorp®, La Jolla, CA, USA. erisoster@gmail.com.
Molecular cytogenetics
|June 10, 2023
概括
全基因组无细胞DNA (cfDNA) 测试显示在高风险怀孕中对大胎儿复制数变异 (CNVs) 的查具有高准确性. 这种非侵入性产前检测 (NIPT) 提供了一个可靠的选择,当患者了解它的好处和局限性时.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 产前诊断 在产前诊断
背景情况:
- 非侵入性产前检测 (NIPT) 分析无细胞DNA (cfDNA) 来检测胎儿无体和副本数变异 (CNVs).
- 专业社会需要更多的数据,才能广泛采用NIPT用于胎儿CNVs.
- 目前的全基因组cfDNA测试检测到的CNV大于7兆基 (Mb).
研究的目的:
- 为了评估全基因组cfDNA测试对胎儿CNVs的性能.
- 将cfDNA测试结果与高风险队列中的产前微阵列进行比较.
主要方法:
- 701个高风险怀孕的回顾性审查.
- 将全基因组cfDNA测试与产前微阵列分析进行比较.
- 对"在范围"和"在范围之外"的CNV的灵敏度,特异性和预测值的分析.
主要成果:
- 对于"在范围"的CNV (≥7Mb),cfDNA测试显示93.8%的灵敏度和97.3%的特异性与微阵列相比.
- 积极的预测值为63.8%,负的预测值为99.7%.
- 当将所有"超出范围"的CNV作为虚假负值计算时,灵敏度降至48.3%.
结论:
- 全基因组cfDNA测试可靠地选高风险人群中的大型胎儿CNV.
- 微阵列仍然是胎儿中枢神经病毒评估中最全面的方法.
- 知情同意和预测咨询对于理解NIPT的限制和好处至关重要.
关键词:
循环的无细胞DNA (cfDNA) 是一种无细胞DNA.副本编号变体的变体整个基因组的NIPT可以使用.微阵列的微阵列非侵入性的产前检测 (NIPT)产前诊断 在产前诊断.在产前查.罕见的形积分病是罕见的.更多相关视频
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