Genomic intensive care: should we perform genome testing in critically ill newborns?
Genomic intensive care: should we perform genome testing in critically ill newborns?
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DOI：
10.1136/archdischild-2015-308568
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发表时间：
2016-03
期刊：
影响因子：
--
通讯作者：
Newson AJ
中科院分区：
文献类型：
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作者：
Wilkinson DJ;Barnett C;Savulescu J;Newson AJ
在新生儿重症监护病房 (NICU) 中，预测的科学和艺术通常会影响生死。大约 5% 入住 NICU 的婴儿死亡。 1 大多数死亡病例都是在家人和临床团队讨论后决定撤回或暂缓生命维持治疗 1 。这些决定基于对婴儿生存机会的评估以及在提供治疗的情况下婴儿生存的预测持续时间和性质。 2NICU 传统上采用各种临床、生化、遗传和放射学测试来评估预后。虽然染色体微阵列现在常用于患有先天性畸形的危重新生儿，但新形式的遗传和基因组测试 3 已开始在重症监护中使用。 4 它们可以通过预测功能结果、重要合并症 5 或尽管治疗但预后不良 4 来帮助重症监护决策（框 1）。
In newborn intensive care units (NICUs), the science and art of prognostication often have life and death implications. Approximately 5% of infants admitted to NICU die. 1 The majority of deaths are preceded by decisions to withdraw or withhold life-sustaining treatment, 1 following discussions between the family and clinical team. These decisions are based on an assessment of an infant’s chance of survival and on the predicted duration and nature of the infant’s survival if treatment is provided. 2A variety of clinical, biochemical, genetic and radiological tests have traditionally been employed to estimate prognosis in the NICU. While chromosomal microarray is now commonly used for critically ill neonates with congenital malformations, new forms of genetic and genomic testing 3 have started to become available in intensive care. 4 They could aid critical care decision-making by predicting functional outcome, important comorbidities 5 or poor prognosis despite treatment 4 (box 1).