染色体异常被诊断在染色体微阵列在怀孕与21型三综合症的孤立高风险的染色体异常
Helyett Ollivier1, Valérie Malan2, Raphael Bartin1
1APHP, Fetal Medicine and Obstetric Department, Necker-Enfants Malades Hospital, Paris, France.
Journal of gynecology obstetrics and human reproduction
|January 15, 2026
概括
在没有早期超声波异常的21型三症高风险怀孕中,24%的人有染色体问题. 用染色体微阵列分析 (CMA) 进行侵入性测试,确定了各种形状和马赛克,低PAPP-A与不平衡有关.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 遗传学 是一个
- 孕产妇与胎儿的医学
背景情况:
- 欧洲的指导方针建议对21型三发症进行侵入性检测,风险> 1/50.
- 非侵入性cfDNA测试促使重新评估高风险查协议.
- 专注于高风险的三发症21怀孕与正常的早期超声检查结果.
研究的目的:
- 在高风险的三发症21怀孕中调查染色体异常,而没有第一季度超声波异常.
- 评估使用染色体微阵列分析 (CMA) 进行侵入性测试的实用性,在这个特定的队列中.
- 探索第一季度标志物和染色体发现之间的关联.
主要方法:
- 对159名患有21型三症高风险妇女进行了回顾性队列研究.
- 通过CMA在2017年至2023年之间进行的侵入性测试.
- 对染色体异常的分析和与超声波和生物化学标记物的相关性.
主要成果:
- 在24% (38/159) 的病例中检测到染色体异常.
- 包括三症21,三症18,胎儿马赛克,受限胎盘马赛克和副本数变异.
- 较低的PAPP-A水平与染色体失衡显著相关 (p < 0.001).
结论:
- 24%的异质染色体异常率在高风险的三发症21怀孕中发现,缺乏特定的超声波标志物.
- 形形状形成了大多数检测到的异常.
- 只有大量拷贝数 (>13.9 Mb) 的变异与神经发育预后不佳有关.
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