Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004
Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004
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DOI：
10.1111/j.1442-200x.2007.02377.x
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发表时间：
2007-06-01
影响因子：
1.4
通讯作者：
Chan, Wai-Tao
中科院分区：
文献类型：
--
作者：
Lin, Hsiang-Yu;Lin, Shuan-Pei;Chan, Wai-Tao
背景资料：本研究探讨13三体症患者的存活率及自然史，比较台湾全民健康保险计划实施前后的治疗及预后。方法：回顾性分析1985年至2004年间在台北马偕纪念医院就诊的28例13三体症患者。比较实施全民健康保险前（12例）和实施全民健康保险后（16例）的生存和管理情况，并分析结构缺陷、影像学表现和细胞遗传学结果。本研究排除了产前诊断并最终终止的病例。结果：除1例13三体易位患者外，其余患者均在出生后1年内死于严重的心血管或中枢神经系统畸形。中位生存期为9天。实施全民健保后，13三体患者的存活率较实施全民健保前明显延长（P < 0.05）。最常见的3种结构缺陷分别为耳廓螺旋异常或低位耳（89%）、隐睾和男性阴囊异常（73%）和唇腭裂（71%）。超声心动图最常见的心脏缺陷为动脉导管未闭（68%）、室间隔缺损（50%）和房间隔缺损（50%），8例（36%）为复杂先天性心脏病。最常见的脑部病变是脑纹血管病变（22%），其次是前脑无裂畸形（17%），脑水肿（13%）和室管膜下囊肿（13%）。结论：早期诊断和生存模式收集的数据应用于通知父母和医疗保健专业人员，以协助决策。虽然大多数13三体患者在出生后的第一周内死亡，但重要的是要认识到少数人可能会存活第一年。在咨询家庭时，应包括13三体患者的长期生存前景。
Background: This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI).Methods: A total of 28 cases of trisomy 13 seen at Mackay Memorial Hospital, Taipei, Taiwan, from 1985 to 2004 were retrospectively reviewed. Survival and management before (12 cases) and after (16 cases) the implementation of National Health Insurance were compared, and structural defects, imaging findings, and cytogenetic results were analyzed. The cases that were diagnosed prenatally, and finally terminated, were excluded from this study. The diagnosis of trisomy 13 was based on the postnatal chromosome analysis.Results: All patients except one with trisomy 13 translocation died in their first year because of severe malformations of the cardiovascular or central nervous system. The median survival was 9 days. After implementation of National Health Insurance, survival with trisomy 13 was significantly longer than before (P < 0.05). The three most common structural defects were abnormal auricular helices or low-set ears (89%), cryptorchidism and abnormal scrotum of male (73%) and cleft lip and/or palate (71%). Using echocardiography, the most commonly detected heart defects were patent ductus arteriosus (68%), ventricular septal defect (50%) and atrial septal defect (50%), and eight cases (36%) had complex congenital heart defects. The most common brain lesion was lenticulostriate vasculopathy (22%), followed by holoprosencephaly (17%), brain edema (13%) and subependymal cyst (13%).Conclusions: Early diagnosis and the survival patterns from the data collected should be used to inform parents and health-care professionals to assist in decision making. Although most patients with trisomy 13 die within the first weeks after birth, it is important to recognize that a few may survive the first year. When counseling families, the long-term survival prospects of trisomy 13 patients should be included.