F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA.
F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA; Division of Pediatric Surgery, Department of General Surgery, Naval Medical Center San Diego, 34800 Bob Wilson Drive, San Diego, California 92134, United States of America.
J Pediatr Surg. 2023 Mar;58(3):384-388. doi: 10.1016/j.jpedsurg.2022.08.010. Epub 2022 Aug 19.
Trisomy 13 is a rare genetic condition with a characteristic set of severe congenital abnormalities. Traditionally, the standard of care was to provide palliative care only. However, there has been a recent shift towards life-prolonging care, including surgery. This study seeks to describe surgical outcomes in patients with trisomy 13 and compare them to comorbidity-matched controls.
Using the ACS NSQIP Pediatric 2012-2019 Participant Use Data Files, patients with trisomy 13 were identified and described. A nearest-neighbor 10:1 propensity score match was performed using demographics, comorbidities, and procedural details. This yielded 254 patients with trisomy 13 and 2,422 controls. Risk ratios for morbidity and mortality by trisomy 13 status were determined using modified Poisson regression. The primary outcomes were thirty-day mortality and the occurrence of any morbidity.
The median age of patients with trisomy 13 was 16 months (IQR 87 months). 126 were male (49.6%) and 128 were female (50.4%). There were no differences in overall morbidity compared to controls (31.8% vs. 29.7%, RR 1.06, 95%CI 0.87-1.28, p = 0.554), but patients with trisomy 13 had markedly higher mortality (7.9% vs. 1.8%, RR 4.43, 95%CI 2.28-8.61, p<0.001).
We conclude that patients with trisomy 13 undergoing surgery have frequent morbidity and an elevated although not prohibitive risk of death. Compared to patients with similar comorbidities, they have similar rates of morbidity but a markedly higher risk of mortality. Parents of children with trisomy 13 require thorough counseling on these risks before deciding on surgery.
三体综合征 13 是一种罕见的遗传疾病，具有一系列严重的先天性异常。传统上，仅提供姑息治疗是标准的治疗方法。然而，最近已经转向延长生命的治疗方法，包括手术。本研究旨在描述三体综合征 13 患者的手术结果，并将其与合并症匹配的对照组进行比较。
使用 ACS NSQIP 儿科 2012-2019 参与者使用数据文件，确定并描述三体综合征 13 患者。使用人口统计学、合并症和手术细节进行最近邻居 10:1 倾向评分匹配。这产生了 254 例三体综合征 13 患者和 2422 例对照。使用修正泊松回归确定三体综合征 13 状态下发病率和死亡率的风险比。主要结局是 30 天死亡率和任何发病率的发生。
三体综合征 13 患者的中位年龄为 16 个月（IQR 87 个月）。126 例为男性（49.6%），128 例为女性（50.4%）。与对照组相比，总体发病率无差异（31.8%对 29.7%，RR 1.06，95%CI 0.87-1.28，p=0.554），但三体综合征 13 患者的死亡率明显更高（7.9%对 1.8%，RR 4.43，95%CI 2.28-8.61，p<0.001）。
我们得出结论，接受手术的三体综合征 13 患者发病率高，死亡率高，尽管不是高到不可接受的程度。与具有相似合并症的患者相比，他们的发病率相似，但死亡率明显更高。在决定手术之前，三体综合征 13 患儿的父母需要充分了解这些风险。
