Abstract：
OBJECTIVE: Trisomy 18 and trisomy 13 are the most common autosomal trisomies following trisomy 21, with overall incidence rising. Both diagnoses are characterized by multisystem involvement and were previously thought to be incompatible with life. New data suggest that prolonged survival is possible, and thus many families are opting for more aggressive medical interventions. This study aims to describe airway findings in trisomy 18 and trisomy 13, as these have not been comprehensively studied and can impact medical decision-making. We hypothesize that most children with trisomy 18 and trisomy 13 will have abnormal findings on airway endoscopy.
METHODS: This a 10-year retrospective analysis of children with trisomy 13 or trisomy 18 who underwent endoscopic airway evaluation at a single center between 2011 and 2021. A total of 31 patients were evaluated.
RESULTS: Thirty-one patients were included and underwent flexible bronchoscopy by a pediatric pulmonologist, often in conjunction with rigid bronchoscopy performed by pediatric otolaryngology. Findings were typically complimentary. All patients had at least one clinically significant finding on evaluation, and most patients had both upper and lower airway, as well as static and dynamic airway findings. The most common airway findings in children with trisomy 13 and 18 include tracheomalacia, bronchomalacia, laryngomalacia, hypopharyngeal collapse, glossoptosis, and bronchial compression.
CONCLUSIONS: These findings can have significant implications for clinical care, and thus knowledge of trends has the potential to improve counseling on expected clinical course, presurgical planning, and informed consent before interventions.
METHODS: This a 10-year retrospective analysis of children with trisomy 13 or trisomy 18 who underwent endoscopic airway evaluation at a single center between 2011 and 2021. A total of 31 patients were evaluated.
RESULTS: Thirty-one patients were included and underwent flexible bronchoscopy by a pediatric pulmonologist, often in conjunction with rigid bronchoscopy performed by pediatric otolaryngology. Findings were typically complimentary. All patients had at least one clinically significant finding on evaluation, and most patients had both upper and lower airway, as well as static and dynamic airway findings. The most common airway findings in children with trisomy 13 and 18 include tracheomalacia, bronchomalacia, laryngomalacia, hypopharyngeal collapse, glossoptosis, and bronchial compression.
CONCLUSIONS: These findings can have significant implications for clinical care, and thus knowledge of trends has the potential to improve counseling on expected clinical course, presurgical planning, and informed consent before interventions.
摘要：
目的：18三体和13三体是21三体后最常见的常染色体三体，总体发病率上升。两种诊断的特征都是多系统参与，以前被认为与生活不相容。新数据表明，延长生存期是可能的，因此，许多家庭选择更积极的医疗干预措施。这项研究旨在描述18三体和13三体的气道发现，因为这些尚未得到全面研究，可能会影响医疗决策。我们假设大多数18三体和13三体的儿童在气道内窥镜检查时会有异常发现。
方法：这是一项为期10年的回顾性分析，分析了在2011年至2021年期间在单个中心接受内镜气道评估的13三体或18三体患儿。共评估了31例患者。
结果：31例患者被纳入并接受了小儿肺科医师的柔性支气管镜检查，通常与小儿耳鼻喉科进行的硬质支气管镜检查相结合。研究结果通常是免费的。所有患者在评估中至少有一项临床上有意义的发现，大多数患者有上气道和下气道，以及静态和动态气道发现。13和18三体患儿最常见的气道表现包括气管软化，支气管软化症，喉软化症,下咽塌陷,舌下垂，和支气管压缩。
结论：这些发现可能对临床护理产生重大影响，因此，对趋势的了解有可能改善对预期临床过程的咨询，术前规划,干预前的知情同意。
方法：这是一项为期10年的回顾性分析，分析了在2011年至2021年期间在单个中心接受内镜气道评估的13三体或18三体患儿。共评估了31例患者。
结果：31例患者被纳入并接受了小儿肺科医师的柔性支气管镜检查，通常与小儿耳鼻喉科进行的硬质支气管镜检查相结合。研究结果通常是免费的。所有患者在评估中至少有一项临床上有意义的发现，大多数患者有上气道和下气道，以及静态和动态气道发现。13和18三体患儿最常见的气道表现包括气管软化，支气管软化症，喉软化症,下咽塌陷,舌下垂，和支气管压缩。
结论：这些发现可能对临床护理产生重大影响，因此，对趋势的了解有可能改善对预期临床过程的咨询，术前规划,干预前的知情同意。
