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检测胎儿染色体17微复制的非侵入性产前检测:临床含义和发现

Ye Shi¹, Fang-Xiu Zheng¹, Jing Wang¹

¹Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, China No. 16 Ding Xiang Road, Changzhou, 213003, Jiangsu Province, China.

Molecular cytogenetics

|April 21, 2024

概括

非侵入性产前检测 (NIPT) 有效地选胎儿17q12微重复. 这种方法可以减少侵袭性产前诊断,并提高拷贝数变异 (CNV) 的检测率.

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:

非侵入性产前检测 (NIPT) 是胎儿形形查的标准.
关于染色体微复制和微删除检测,NIPT的数据有限.
这项研究评估了NIPT在识别染色体微重复的效率.

研究的目的:

调查NIPT用于检测染色体微重复的应用效率.
评估NIPT在第二个三个月内对副本数变异 (CNV) 的查中的作用.

主要方法:

通过NIPT识别的四个案例,副本数在17q12获得.
通过染色体微阵列分析 (CMA) 通过复制数变化 (CNV) 分析确认NIPT发现.
型分析以排除其他染色体异常.

主要成果:

在三个案例中,NIPT检测到17q12微重复 (1.51.9 Mb),与CMA结果一致.
对于17q12微复制的NIPT的积极预测值为75.0%.
型鉴定排除了其他不平衡的重排.

结论:

尼普特证明了对17q12微重复的良好的选效果.
在第二个三个月内,可以考虑NIPT用于胎儿CNV查.
临床使用NIPT可以减少侵袭性产前诊断,并提高胎儿中核病毒检测率.

关键词:

17q12 重复复制的情况在CMA,CMA是CMA.型是一种型.尼普特 (NIPT) 是一家专业的技术公司.产前诊断在产前诊断.

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