METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted.
RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented.
CONCLUSIONS: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.
方法:分析了ARM患者的单中心前瞻性注册表(2018年7月至2024年3月)。注意到出现异常的时机。超过72小时或已出院的患者被定义为延迟诊断。注意到与延迟诊断相关的因素。
结果:纳入60例患者,其中9人(15%)在72小时后被诊断出[范围4-279天]。与2016年至17年BAPS-CASS队列中的39/174(22%)晚期诊断病例相比,这表示无显着改善(p=0.188)。表现出阻塞症状(即腹胀,呕吐,大直肠)在晚期诊断患者中更常见(4/9(44%)与1/51(2%);p=0.001)。会阴上产生胎粪的异常更有可能被诊断为晚期(8/32(25%)对1/28(4%);p=0.029)。介绍了这些病例的并发症和临床管理的变化。
结论:尽管我们地区的晚期诊断率似乎低于以前报道的国家诊断率,仍有相当数量的婴儿被诊断为晚期,尤其是那些有可见会阴开口的婴儿。这些婴儿更常见的症状;带来与紧急情况表现相关的额外风险。