NATURAL-HISTORY OF TRISOMY-13
NATURAL-HISTORY OF TRISOMY-13
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DOI：
10.1136/adc.71.4.343
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发表时间：
1994-10-01
影响因子：
5.2
通讯作者：
HUNTER, S
中科院分区：
文献类型：
--
作者：
WYLLIE, JP;WRIGHT, MJ;HUNTER, S
13三体综合征患者的预后不良长期以来一直被接受，并被归因于大脑和心脏畸形。然而，有人认为，长期生存率比以前认为的要好，心脏手术可能是合理的。本研究回顾了1985 ~ 1992年北方卫生区13三体患者的发病率、产前诊断、先天性心脏病的生存谱和死亡方式。出生时观察到的患病率为0.049/1000活产，考虑到产前诊断，预期患病率为0.077。发现的心脏病变都不会导致早期死亡。该系列的中位生存期为4天，最长生存期为3.5个月。16名儿童中有14名的主要死亡方式是呼吸暂停，与是否存在颅骨异常无关。根据这些发现，13三体患者的心脏手术是不合理的。
The poor prognosis of patients with trisomy 13 has long been accepted and has been ascribed to brain and heart malformations. It has been suggested, however, that the long term survival is better than was previously thought and that cardiac surgery may be justified. This population based study reviews the incidence, antenatal diagnosis, spectrum of survival from congenital heart disease, and mode of death for patients with trisomy 13 in the Northern Health Region from 1985 to 1992.There was an observed prevalence at birth of 0.049/1000 live births and an expected prevalence, allowing for antenatal diagnosis, of 0.077. None of the cardiac lesions found would cause early death. The median survival in this series was four days; the longest survival was 3.5 months. The principal mode of death was apnoea in 14 of 16 children, irrespective of the presence of a cranial abnormality. In the light of these findings, cardiac surgery cannot be justified in patients with trisomy 13.