在产前诊断期间检测到父母体质马赛克主义
Natalie J Chandler1, Elizabeth Scotchman1, Fiona McKay1
1NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Prenatal diagnosis
|November 25, 2024
概括
下一代测序 (NGS) 检测出父母的马赛克主义错过了旧的方法,影响遗传咨询和生殖选择. 意识到这种提高的敏感性对于准确评估未来怀孕中复发风险至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 生殖医学 生殖医学
- 基因组咨询 基因组咨询
背景情况:
- 准确的复发风险评估对于遗传咨询和生殖决策至关重要.
- 桑格测序,历来用于家长测试,具有有限的灵敏度 (∼10%) 检测体质马赛克.
- 下一代测序 (NGS) 方法为检测马赛克主义提供了更高的灵敏度.
研究的目的:
- 审查通过非侵入性产前诊断 (NIPD) 和三重产前外体序列测序检测到的父母体质马赛克主义病例.
- 讨论检测到的父母马赛克主义对临床管理和复发风险咨询的影响.
主要方法:
- 从2015年1月1日到2022年9月30日,对实验室数据库进行审查.
- 在NIPD和产前外体检测期间识别父母体质马赛克的病例.
- 将NGS灵敏度与用于马赛克检测的历史桑格测序进行比较.
主要成果:
- 在NIPD发展过程中,在7.6% (10/131) 的家庭中发现了父母体内马赛克主义.
- 在之前的桑格测序中,NGS检测到6例 (0.37%8.82%) 错过的马赛克.
- 在外基因组测序队列中的3.96% (4/101) 发现了父母的马赛克主义; 2/14 家长表现出临床特征.
结论:
- 测试技术的敏感性对于准确的复发风险咨询至关重要.
- 现代产前诊断方法,如NGS,可以识别父母的马赛克主义.
- 意识到父母的马赛克主义对父母的健康和未来怀孕复发风险有影响.
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