241个胎儿的基因与Talipes Equinovarus:一个8年的单心回顾性研究
Pingshan Pan1, Dongbing Huang1, Jiangxuan Wei1
1Prenatal Diagnosis Center, The Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.
Molecular genetics & genomic medicine
|February 13, 2025
概括
染色体微阵列分析 (CMA) 和整个外体序列测序 (WES) 对于在胎儿中诊断塔利普斯同类病毒 (TE) 是有价值的. 推CMA为第一线,其次为正常CMA结果的WES,改善遗传诊断率.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 胎儿异常 胎儿异常
背景情况:
- 一种常见的胎儿异常 - - Talipes equinovarus (TE) - - 具有复杂的遗传基础.
- 准确的遗传诊断对于遗传咨询和管理至关重要.
研究的目的:
- 评估染色体微阵列分析 (CMA) 和整个外体组序列 (WES) 对胎儿TE的诊断效用.
- 为了确定与TE相关的遗传因素.
主要方法:
- 对241名TE胎儿 (2015-2023) 的回顾性审查.
- 分类为孤立的TE (163例) 和综合性TE (78例).
- 对所有人进行了型和CMA;对于18岁的正常型/CMA的WES.
主要成果:
- 型/CMA的总体检测率为16.2% (39/241).
- 综合 TE 组的检测率比孤立 TE (10.4%) 高 (28.2%).
- 在正常CMA病例中,WES在33.3% (6/18) 的病例中发现了致病变体,包括RIT1,GNPNAT1,PEX1,RYR1,ASCC1和GDAP1.1中的变体.
结论:
- 推使用型和CMA作为胎儿TE的第一线检测.
- 在单独和综合性TE的正常CMA结果的情况下,WES对进一步的遗传研究有价值.
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