对产后胎盘的研究提供了关于结构性染色体异常的起源的见解
S H Thomsen1,2,3, A van Berkel4, S van Veen4
1Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus N, Denmark.
Human reproduction (Oxford, England)
|December 3, 2025
概括
胎盘检查证实了58%的病例存在差异,其中非侵入性产前检测 (NIPT) 检测到结构性染色体异常,但胎儿的随访正常. 在39%的确诊病例中发现了复杂的马赛克主义,这凸显了胎盘分析的重要性.
科学领域:
- 生殖遗传学 生殖遗传学
- 细胞遗传学 细胞遗传学
- 产前诊断 在产前诊断
背景情况:
- 局限性胎盘马赛克 (CPM) 解释了三症的许多不一致的NIPT结果,但其在结构性染色体异常中的作用不太了解.
- 在植入前胚胎中观察到复杂的染色体重组,但它们在成熟的胎盘中持续存在尚不清楚.
研究的目的:
- 调查是否全面的产后胎盘细胞遗传随访可以解释结构性染色体异常的NIPT发现和随后的胎儿/母亲随访之间的差异.
- 确定局限性胎盘马赛克和复杂马赛克的发生率,在结构偏差不一致的NIPT结果的情况下.
主要方法:
- 产后胎盘细胞遗传数据的回顾性分析来自31例NIPT检测的结构性异常和不一致的胎儿/母亲随访病例.
- 用SNP数组检测副本数变异 (≥0.5Mb) 和同胞性区域 (≥3Mb) 的分析,对胎盘小进行分析,分离细胞致血细胞 (CTB) 和介质核 (MC),使用SNP数组检测副本数变异 (≥0.5Mb).
主要成果:
- 通过NIPT检测到的结构性染色体异常在18/31 (58%) 个案例中在胎盘中得到证实.
- 在7/18 (39%) 确诊病例中,发现了涉及不同细胞系的复杂马赛克.
- 在4/7的复杂马赛克病例中,胎儿有不同的致病性染色体异常;在3/7中,存在相关的良性异常.
结论:
- 产后胎盘细胞遗传分析对于理解NIPT和胎儿对结构性染色体异常的随访之间的差异至关重要.
- 研究结果表明,全基因组的胎儿随访和咨询应该解决其他或相关结构异常的可能性.
- 在早期胚胎中观察到的复杂的染色体重排可以持续到成熟的胎盘中,这强调了胎盘马赛克的生物相关性.
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