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13三体和18三体新生儿心脏手术的结果:一项荟萃分析的系统评价

Outcomes of heart surgery in neonates with trisomy 13 and 18: a systematic review with metanalysis.

作者信息

de Sá Bittencourt Câmara Bastos Cecilia, Vale da Cruz Ludmilla, Hirano Arruda Moraes Lucas, Jornada Krebs Vera Lúcia, de Carvalho Werther Brunow

机构信息

Department of Pediatrics, Faculty of Medicine of the University of São Paulo, Instituto da Criança e do Adolescente do Hospital das Clínicas, Av. Dr. Enéas de Carvalho Aguiar, 647, São Paulo, São Paulo, 05403-000, Brazil.

Neonatal Section, Pediatric Division, University Hospital of the University of Sao Paulo, São Paulo, Brazil.

出版信息

Eur J Pediatr. 2025 Jun 20;184(7):430. doi: 10.1007/s00431-025-06274-7.

DOI:10.1007/s00431-025-06274-7
PMID:40537699
Abstract

This systematic review and meta-analysis aimed to evaluate the clinical outcomes of cardiac surgery in neonates with trisomy 13 (T13) or trisomy 18 (T18) compared to those managed with palliative care. A literature search was conducted in PubMed® and EMBASE®, following PRISMA guidelines, and included five retrospective cohort studies (1627 patients). Outcomes analyzed included in-hospital mortality, survival at 12 months, length of stay (LOS), hospital discharge rates, and the need for mechanical ventilation. The meta-analysis showed that cardiac surgery significantly reduced the odds of in-hospital mortality (OR 0.12, CI 95% 0.03-0.42, p < 0.01), increased survival at 12 months (OR 19.77, CI 95% 5.12-76.36, p < 0.01), and improved discharge rates (OR 12.53, CI 95% 3.63-43.22, p < 0.01). However, limited data were available on quality of life and mechanical ventilation duration. Conclusion: Despite the positive impact of cardiac surgery on survival and discharge rates, the evidence remains low quality, as the included studies were primarily retrospective cohorts with moderate risk of bias. The findings highlight the importance of involving families in the decision-making process, given their differing perspectives on quality of life. Further high-quality studies, such as randomized controlled trials, are needed to provide stronger evidence on this topic.

摘要

本系统评价和荟萃分析旨在评估与接受姑息治疗的新生儿相比,患有13三体综合征(T13)或18三体综合征(T18)的新生儿心脏手术的临床结局。按照PRISMA指南在PubMed®和EMBASE®中进行文献检索,纳入了5项回顾性队列研究(1627例患者)。分析的结局包括住院死亡率、12个月生存率、住院时间(LOS)、出院率以及机械通气需求。荟萃分析表明,心脏手术显著降低了住院死亡率(比值比[OR]0.12,95%置信区间[CI]0.03 - 0.42,p < 0.01),提高了12个月生存率(OR 19.77,95% CI 5.12 - 76.36,p < 0.01),并改善了出院率(OR 12.53,95% CI 3.63 - 43.22,p < 0.01)。然而,关于生活质量和机械通气持续时间的数据有限。结论:尽管心脏手术对生存率和出院率有积极影响,但证据质量仍然较低,因为纳入的研究主要是回顾性队列,存在中度偏倚风险。鉴于家庭对生活质量的不同观点,研究结果凸显了让家庭参与决策过程的重要性。需要进一步开展高质量研究,如随机对照试验,以提供关于该主题的更有力证据。

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Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand.泰国一家三级医院中 13 三体、18 三体和 21 三体患者的经济成本。
PLoS One. 2023 Nov 16;18(11):e0291918. doi: 10.1371/journal.pone.0291918. eCollection 2023.
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Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow.心脏姑息手术对18三体综合征且肺血流量增加患者的疗效。
Am J Med Genet A. 2023 Nov;191(11):2703-2710. doi: 10.1002/ajmg.a.63401. Epub 2023 Sep 12.
3
Impact of Genetic Disorders in the Surgical Management of Congenital Heart Disease.
遗传疾病对先天性心脏病手术治疗的影响。
World J Pediatr Congenit Heart Surg. 2023 Mar;14(2):201-210. doi: 10.1177/21501351221139837. Epub 2023 Mar 3.
4
Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?18 三体和 13 三体综合征患儿的管理:是否存在治疗模式的转变?
Am J Perinatol. 2021 Sep;38(11):1122-1125. doi: 10.1055/s-0041-1732363. Epub 2021 Jul 26.
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Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs).儿童医院新生儿重症监护病房(NICU)中患有 18 三体(T18)或 13 三体(T13)的婴儿的医疗和手术干预措施及结果。
J Perinatol. 2021 Jul;41(7):1745-1754. doi: 10.1038/s41372-021-01111-9. Epub 2021 Jun 10.
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Interdisciplinary care of children with trisomy 13 and 18.13 三体和 18 三体综合征患儿的跨学科治疗。
Am J Med Genet A. 2021 Mar;185(3):966-977. doi: 10.1002/ajmg.a.62051. Epub 2020 Dec 31.
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Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery.18 三体和 13 三体综合征患儿心脏手术后生活质量的混合方法研究。
Cardiol Young. 2020 Feb;30(2):231-237. doi: 10.1017/S1047951120000013. Epub 2020 Jan 22.
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J Pediatr Surg. 2020 Nov;55(11):2466-2470. doi: 10.1016/j.jpedsurg.2019.12.009. Epub 2019 Dec 30.
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Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.三体 13 号和 18 号染色体三体性-患病率和死亡率-基于多登记处的人群分析。
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Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18.先天性心脏病手术对13三体和18三体患儿住院死亡率的影响
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