基因检测在新生儿重症监护中的应用

IF 0.3 Q4 PEDIATRICS Journal of Child Science Pub Date : 2021-01-01 DOI:10.1055/s-0041-1733875

V. Anand, Femitha Pournami, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain

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引用次数: 0

摘要

遗传疾病在人的一生中影响最大的是胎儿期、围产期和新生儿期。准确的诊断优化管理决策，并有助于家长咨询。因此，该领域的医疗专业人员必须认识到遗传病的基础以及选择适当检测的适应症、选择、先决条件和益处。不恰当的测试选择带来了几个不利因素——以成本、不确定的结果和道德困境的形式。本文旨在从临床医生的角度，简明扼要地揭开各种基因检测的神秘面纱，并在特定情况下帮助选择最合适的基因检测。我们fi

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Precision Medicine with Genetic Testing in Neonatal Intensive care

The highest impact of genetic disorders through a human being ’ s lifespan isduring fetal, perinatal, and neonatal periods. Accurate diagnosis optimizes managementdecisions, and aids parent counseling. Medical professionals in the ﬁ eld must therefore be cognizant of the foundations of genetic diseases and the indications, choices, prerequisites, and bene ﬁ ts of selection of appropriate tests. Inappropriate selection of tests comes with several downsides — in the form of costs, inconclu-sive results, and ethical dilemmas. This article seeks to demystifysuccinctly,fromaclinician ’ sperspective,thevarious genetic tests available and aid selection of the most appropriate one in a given situation. We ﬁ

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来源期刊

Journal of Child Science PEDIATRICS-

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0.50

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