PDF(Pubmed)
Abstract：
Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010-2014), adoption period (2015), and delayed implementation (2022); p ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, p = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, p = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, p = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward.
摘要：
新诊断为肛门直肠畸形（ARM）的新生儿对临床团队提出了独特的挑战。ARM与额外的中线畸形密切相关，例如在VACTERL序列中观察到的那些，包括椎骨,心脏,和肾脏畸形.及时评估是必要的，以确定需要干预的异常情况，并防止过度的压力和延迟治疗。我们利用多学科团队开发了一种算法，指导新诊断为ARM的患者的中线检查。如果出生在或转移到我们的新生儿重症监护病房（NICU），或者在一个月内的临床上看到的。完整成像被定义为超声心动图，肾超声,和脊柱磁共振成像或超声检查在生命的第一个月内。我们比较了三个时期：实施前(2010-2014年)，收养期（2015年），和延迟实施（2022年）；p≤0.05被认为是显著的。从实施前到延迟实施的完全成像率显著提高(65.2%vs.50.0%vs.97.0%,p=0.0003）；在脊柱成像中观察到最大的增长（71.0％vs.90.0%vs.100.0%,p=0.001)。虽然识别出的异常率没有差异，算法的漏诊次数较少(10.0%与47.6%,p=0.05)。我们证明了标准化算法的实施可以显着增加对与ARM新诊断相关的异常的适当筛查，并可以减少延迟诊断。进一步的定性研究将有助于改进和优化算法。
