在丹麦中部地区 (2012-2023) 进行囊性纤维化产前检测
Line Dahl Jeppesen1,2, Stine Skibsted Rinder2, Naja Becher2,3
1ARCEDI Biotech Aps, Vejle, Denmark.
Fetal diagnosis and therapy
|May 25, 2025
概括
使用回声性肠道 (EB) 作为指标的囊性纤维化 (CF) 产前查具有较低的积极预测价值. 家庭病史仍然是识别受CF影响的胎儿的更有效指标.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 基因查 基因查 基因查
背景情况:
- 囊性纤维化 (CF) 是一种具有高载体频率的严重遗传疾病.
- 在丹麦,产前CF检测是根据家族病史或超声波异常提供的.
- 评估产前CF检测的指示和结果至关重要.
研究的目的:
- 评估产前囊性纤维化检测的适用性.
- 根据各种临床指示,评估产前CF检测结果.
- 确定回声性肠道作为CF产前标记物的临床实用性.
主要方法:
- 对产前CF检测的临床指示和遗传结果的分析.
- 在丹麦中部地区从2012年8月到2023年收集数据.
- 根据临床症状对测试进行分类.
主要成果:
- 声源性肠道 (EB) 是最常见的指示 (44.7%),只确定了一个受CF影响的胎儿 (0.7%).
- 结合EB与其他超声检测结果,没有发现受CF影响的胎儿.
- 家庭病史发现了5个受影响的胎儿 (10.6%) 和25个携带者 (53.2%).
结论:
- 声源性肠道在丹麦对胎儿囊性纤维化有较低的积极预测值.
- 在没有系统查的情况下,EB是CF临床效用有限的标志物.
- 家庭病史是产前CF诊断的更可靠指标,指导资源分配.
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