两例胎盘三位症21的马赛克,导致假阴性NIPT结果的两个案例
Qinfei Zhao1, Jing Chen1, Ling Ren2
1Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi, China.
Molecular cytogenetics
|July 14, 2023
概括
报告了两个关于唐氏综合征的负面非侵入性产前检测 (NIPT) 的病例,尽管在胎儿型中确诊了三形21. 这些虚假阴性可能源于诸如胎盘马赛克主义等生物学因素,突出NIPT.
科学领域:
- 遗传学 遗传学 是一个
- 产前诊断 在产前诊断
- 分子生物学分子生物学
背景情况:
- 使用无细胞DNA的非侵入性产前检测 (NIPT) 是一种常见的查工具,用于检测胎儿的三症.
- 虽然NIPT表现出高灵敏度和特异性,但可能会出现错误的阳性和错误的阴性.
- 唐氏综合征的假阴性NIPT结果虽然很少见,但对家庭有重大影响.
研究的目的:
- 介绍两例针对21型三症的虚假阴性NIPT结果.
- 探索潜在的生物机制,如胎盘马赛克,有助于这些虚假阴性.
- 强调NIPT对临床遗传学家和患者的查性质.
主要方法:
- 分析了两起NIPT报告三发症21阴性病例的病例.
- 通过羊水胆型定型确认21号胎儿形症.
- 使用胎盘活检和造型定型来调查胎盘嵌合体的研究.
主要成果:
- 这两种病例都显示出胎儿心型,证实了三发症21 (46,XY+,21 der(21;21) ((q10;q10) 和47,XY+,21).
- 胎盘活检揭示了不同程度的三形21 mozaicism,从8%到88%的奇默主义.
- 怀孕分别在妊娠30周和27周结束.
结论:
- 错误的负NIPT结果可能来自生物因素,如胎盘马赛克.
- 这些发现强调了理解NIPT作为查,而不是诊断工具的重要性.
- 临床遗传学家和患者必须意识到NIPT的局限性和虚假阴性结果的可能性.
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