Lin Hsiang-Yu, Lin Shuan-Pei, Chen Yen-Jiun, Hsu Chyong-Hsin, Kao Hsin-An, Chen Ming-Ren, Hung Han-Yang, Ho Che-Sheng, Chang Jui-Hsing, Huang Fu-Yuan, Tsai Tsuen-Chiuan, Lin Dar-Shong, Chan Wai-Tao
Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medicine, Nursing and Management College, Taipei, Taiwan.
Pediatr Int. 2007 Jun;49(3):380-6. doi: 10.1111/j.1442-200X.2007.02377.x.
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).
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.
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%).
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.
本研究调查了一系列13三体综合征患者的生存情况及自然病史，比较了台湾全民健康保险计划（NHI）实施前后的治疗及结局。
回顾性分析了1985年至2004年在台湾台北市马偕纪念医院就诊的28例13三体综合征患者。比较了全民健康保险实施前（12例）和实施后（16例）的生存情况及治疗情况，并分析了结构缺陷、影像学检查结果及细胞遗传学结果。本研究排除了产前诊断并最终终止妊娠的病例。13三体综合征的诊断基于产后染色体分析。
除1例13三体易位患者外，所有患者均因心血管或中枢神经系统严重畸形在出生后第一年内死亡。中位生存期为9天。全民健康保险实施后，13三体综合征患者的生存期明显长于实施前（P < 0.05）。三种最常见的结构缺陷为耳廓螺旋异常或低位耳（89%）、男性隐睾及阴囊异常（73%）和唇裂和/或腭裂（71%）。使用超声心动图检查，最常检测到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%）患有复杂先天性心脏病。最常见的脑部病变为豆纹状血管病变（22%），其次为前脑无裂畸形（17%）、脑水肿（13%）和室管膜下囊肿（13%）。
应根据早期诊断及所收集的数据中的生存模式，为家长和医护人员提供信息以协助决策。虽然大多数13三体综合征患者在出生后几周内死亡，但认识到少数患者可能存活超过一年很重要。在为家庭提供咨询时，应告知13三体综合征患者的长期生存前景。
