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16 例接受强化治疗的 13 三体综合征新生儿的更好预后:一项回顾性研究。

Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients.

机构信息

Department of Pediatrics, Dokkyo Medical University School of Medicine, Kitakobayashi 880, Mibu, Tochigi, 321-0293, Japan.

出版信息

Cell Biochem Biophys. 2012 Jul;63(3):191-8. doi: 10.1007/s12013-012-9355-0.

DOI:10.1007/s12013-012-9355-0
PMID:22487910
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3372784/
Abstract

Intensive treatment for newborns with trisomy 13 is controversial because of their lethal prognosis. We report the better life prognosis of patients with trisomy 13 who received intensive treatment. At our hospital, we provided an intensive management to such patients including resuscitation and surgical procedures as required. Herein, we present the results of a retrospective study (1989-2010) of 16 trisomy 13 cases who received an intensive treatment. None was diagnosed to have trisomy 13 before birth; 9 were delivered by C-section and oxygen was administered to all patients during postpartum resuscitation. Mechanical ventilation was used in 9 patients after tracheal intubation and tracheotomy was performed in 2 patients when withdrawing of extubation was difficult. Regarding prognosis, 9 patients died, 3 were referred to another hospital, and 4 were discharged from the hospital. Four and 7 patients died within 7 and 30 days after birth, respectively. Nine patients survived for >1 month, 7 for >180 days, and 5 for >3 years. Median survival for 16 patients was 733 days. The patients who received intensive treatments survived longer compared to the previous data. This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13.

摘要

对三体 13 型新生儿进行强化治疗存在争议,因为其预后致死率较高。我们报告了接受强化治疗的三体 13 型患者预后更好。在我院,我们对这些患者提供强化管理,包括必要的复苏和手术。在此,我们回顾性研究了 1989 年至 2010 年期间 16 例接受强化治疗的三体 13 型病例的结果。这些患儿出生前均未诊断为三体 13 型,9 例经剖宫产分娩,所有患儿在产后复苏期间均吸氧。9 例患儿在气管插管后进行机械通气,2 例在拔管困难时进行气管切开术。预后方面,9 例患儿死亡,3 例转院,4 例出院。4 例和 7 例患儿分别在出生后 7 天和 30 天内死亡。9 例患儿存活超过 1 个月,7 例存活超过 180 天,5 例存活超过 3 年。16 例患儿的中位生存时间为 733 天。与既往数据相比,接受强化治疗的患儿存活时间更长。本研究为遗传咨询提供了有用的信息,尤其是从伦理角度出发,为新生儿提供强化治疗之前。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b0/3372784/2c4fc69bfba1/12013_2012_9355_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b0/3372784/c3ce148bf6d4/12013_2012_9355_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b0/3372784/2c4fc69bfba1/12013_2012_9355_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b0/3372784/c3ce148bf6d4/12013_2012_9355_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6b0/3372784/2c4fc69bfba1/12013_2012_9355_Fig2_HTML.jpg

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1
Care of children with trisomy 18 in Japan.
Am J Med Genet A. 2008 Jun 1;146A(11):1369-71. doi: 10.1002/ajmg.a.32355.
2
Intensive cardiac management in patients with trisomy 13 or trisomy 18.13三体或18三体患者的强化心脏管理。
Am J Med Genet A. 2008 Jun 1;146A(11):1372-80. doi: 10.1002/ajmg.a.32311.
3
Survival of trisomy 18 cases in Japan.
Genet Couns. 2007;18(3):303-8.
4
一名29岁的帕陶综合征患者:医疗管理病例报告
Cureus. 2024 Jan 1;16(1):e51471. doi: 10.7759/cureus.51471. eCollection 2024 Jan.
4
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Cureus. 2023 Dec 19;15(12):e50793. doi: 10.7759/cureus.50793. eCollection 2023 Dec.
5
An infant with patau syndrome associated with congenital heart defects.一名患有与先天性心脏缺陷相关的帕陶综合征的婴儿。
Ann Med Surg (Lond). 2022 Jul 2;80:104100. doi: 10.1016/j.amsu.2022.104100. eCollection 2022 Aug.
6
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。
Am J Med Genet A. 2019 Dec;179(12):2382-2392. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30.
7
An 8-week-old infant with trisomy 13: dilemmas for medical decision making.一名患有13三体综合征的8周大婴儿:医疗决策中的困境。
AME Case Rep. 2018 Jan 26;2:3. doi: 10.21037/acr.2018.01.03. eCollection 2018.
8
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J Perinatol. 2017 Apr;37(4):420-426. doi: 10.1038/jp.2016.245. Epub 2017 Jan 12.
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Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004.
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