通过扩大载体查和咨询来改变标准化产科护理:一个多中心前性队列研究
Han-Ying Chen1,2, Shin-Yu Lin3, Jin-Chung Shih1
1Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Journal of medical genetics
|October 5, 2023
概括
扩展的基因查在近10%的夫妇中识别出致病变体,影响产前护理决策. 对于生育年龄的夫妇,建议进行泛民族遗传查和咨询.
科学领域:
- 医学遗传学 医学遗传学
- 生殖医学 生殖医学
- 基因组医学是基因组医学.
背景情况:
- 扩大基因查提高了对遗传性胎儿疾病的评估.
- 预孕和产前遗传检测对于全面的健康评估至关重要.
研究的目的:
- 评估扩展载体查在大型队列中的意义.
- 巩固在产前护理中扩大遗传查的作用.
主要方法:
- 多中心,回顾性队列研究 (2019年12月 - 2022年7月).
- 使用了302个基因面板,并进行了下一代测序.
- 包括查前后的遗传咨询.
主要成果:
- 查了1587名患者;确定了653对夫妇.
- 在9.49%的夫妇中检测到相同基因中的致病变体.
- 确定了212个致病基因;73.91%的参与者携带至少一个突变基因. 最常见的是GJB2基因变异 (19.85%).
结论:
- 下一代测序载体查提供了有价值的信息,在9.49%的病例中改变了产前护理.
- 对于生育年龄的夫妇,建议进行泛民族遗传查和咨询.
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