背景:这项研究描述了肛门直肠畸形(ARM)的表现和初步治疗;评估频率,晚期诊断的原因和后果。
方法:前瞻性,2015年1月10日和2016年9月30日在英国和爱尔兰对新诊断的ARM进行了人群队列研究.后续行动在一年内完成。数据以n(%)表示,使用适当的统计方法。与晚期诊断相关的因素;定义为:使用单变量逻辑回归评估出院后或出生后72小时以上的ARM检测。
结果:26个中心报告了174例病例,其中158例根据畸形类型进行分类,154例完成了手术数据。总的来说,会阴瘘是最常见的异常43/158(27%);在接受手术的41名儿童中,15(37%)形成了造口。21/154(14%,CI95{9-20})接受手术的患者经历了术后并发症。39例(22%)被诊断为晚期,12例(7%)在出生后>30天被检测到。与晚期诊断相关的因素包括女性(OR2.06;1.0-4.26),具有可见的会阴开口(OR2.63;1.21-5.67)和导致会阴上可见胎粪的异常(OR18.74;2.47-141.73)。56/174(32%)诊断为VACTERL关联(椎骨,肛门直肠,心脏,气管,食道,肾和肢体);然而,并非所有婴儿都接受了常见相关异常的调查.51/140(36%)在超声心动图上检测到心脏异常。
结论:在英国和爱尔兰,ARM出生婴儿的护理还有改进的空间。提高进行新生儿检查的技能,以便及时诊断,有必要指导相关异常的普遍筛查,并进一步分析导致临床不必要造口形成的因素。
方法:II(前瞻性队列研究<80%随访)。
BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis.
METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression.
RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram.
CONCLUSIONS: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted.
METHODS: II (Prospective Cohort Study <80% follow-up).