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评估定量光聚合酶连锁反应的有效性,以替代或补充用于产前诊断的常规型化

Charu Sharma¹, Meenakshi Gothwal¹, Pratibha Singh¹

¹Department of Obstetrics & Gynecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan 342005 India.

Journal of obstetrics and gynaecology of India

|May 20, 2025

概括

定量光聚合酶连锁反应 (QF-PCR) 显示出高精度的产前形查. 然而,它并不能完全取代传统的型造型,特别是异常超声检测结果.

科学领域:

产前诊断在产前诊断
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

评估定量光聚合酶连锁反应 (QF-PCR) 作为辅助产前诊断工具.
评价QF-PCR与染色体形状症的常规型定型相比.

研究的目的:

为了确定QF-PCR在产前诊断中的有效性.
为了比较高风险怀孕中的QF-PCR与kariyotyping.

主要方法:

对464名高风险孕妇 (妊娠年龄12-24周) 的队列研究.
分析了347名接受了QF-PCR和胆型定型的女性.
报名时间:2020年1月至2023年5月.

主要成果:

在347个分析样本中,QF-PCR和型之间的一致性为95.67%.
QF-PCR显示了三形21和三形18的100%一致性.
没有观察到虚假阴性或虚假阳性QF-PCR结果.
11个不一致的病例显示出各种遗传异常,包括删除,转位,反转和马赛克主义.
总体染色体异常的频率为8.82%.

结论:

在某些特定情况下,QF-PCR可以是一个独立的诊断工具,并提供适当的咨询.
建议在正常的QF-PCR和异常的超声检测结果或家族病史时同时进行型定型或染色体微阵列.
QF-PCR是快速和敏感的,但不能完全取代传统的型分析.

关键词:

型是一种型.定量光聚合酶连锁反应的量化光反应三重症 21,13,18 年的三重症.一个XY染色体的积症.

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