PDF(Pubmed)
Abstract：
OBJECTIVE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK\'s Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years.
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.
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.
摘要：
目的：英国2016年报告的国家数据表明，近四分之一的肛门直肠畸形（ARM）婴儿诊断延迟。英国新生儿体格检查规定会阴检查应在出生后72小时内进行。我们试图描述最近5年中出现的第三级单中心经验。
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。
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。
