英国和爱尔兰的罗宾序列流行病学:积极监测研究
Marie Fa Wright1,2,3, Rachel L Knowles2, Mario Cortina-Borja2
1Paediatric Respiratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada marie.wright@cw.bc.ca.
Archives of disease in childhood
|June 27, 2023
概括
在英国和爱尔兰,罗宾序列 (RS) 与口腔裂变的出生患病率高于以前的估计,每5250名活产婴儿中就有1名受影响. 双重监控方法发现了更多病例,包括那些症状较轻的病例.
科学领域:
- 儿科 儿科 儿科
- 流行病学 流行病学
- 遗传学 遗传学是一种遗传学.
背景情况:
- 罗宾序列 (RS) 出生率通常被引用为每8000-14,000个活产中的1个.
- 以前的估计可能低估了真正的患病率,原因是单一来源的确诊,错过了较轻的病例或没有住院治疗的病例.
研究的目的:
- 为了确定英国和爱尔兰罗宾序列 (RS) 的确切出生患病率.
- 采用基于人口的出生队列,以高病例确定为准确的流行率估计.
主要方法:
- 在英国和爱尔兰各地对RS的积极监测.
- 使用双重病例确定:英国儿科监测单位 (BPSU) 报告和国家裂服务.
- 在两个时间点从通知临床医生收集的临床数据.
主要成果:
- 确定了173名符合监视案例定义的活产婴儿.
- 确立了一个出生率为每5250个活产中的1个 (每10万个中的19.1).
- 发现47%的病例有非隔离的RS,斯蒂克勒综合征是最常见的遗传诊断 (12%).
结论:
- 积极监测显示,英国/爱尔兰RS的出生患病率高于此前报告的.
- 双重确认确定了单个来源遗漏的病例,包括那些有轻度或晚发的呼吸道问题的人.
- 需要进一步的研究来探索RS出生率的地理差异.
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