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从产前基因组诊断到胎儿个体化医学:进展与挑战。

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges.

机构信息

The Mother Infant Research Institute at Tufts Medical Center and the Division of Genetics, Department of Pediatrics, Floating Hospital for Children, Boston, Massachusetts, USA.

出版信息

Nat Med. 2012 Jul 6;18(7):1041-51. doi: 10.1038/nm.2829.

Abstract

Thus far, the focus of personalized medicine has been the prevention and treatment of conditions that affect adults. Although advances in genetic technology have been applied more frequently to prenatal diagnosis than to fetal treatment, genetic and genomic information is beginning to influence pregnancy management. Recent developments in sequencing the fetal genome combined with progress in understanding fetal physiology using gene expression arrays indicate that we could have the technical capabilities to apply an individualized medicine approach to the fetus. Here I review recent advances in prenatal genetic diagnostics, the challenges associated with these new technologies and how the information derived from them can be used to advance fetal care. Historically, the goal of prenatal diagnosis has been to provide an informed choice to prospective parents. We are now at a point where that goal can and should be expanded to incorporate genetic, genomic and transcriptomic data to develop new approaches to fetal treatment.

摘要

迄今为止,个性化医学的重点一直是预防和治疗影响成年人的疾病。尽管基因技术的进步更多地应用于产前诊断而不是胎儿治疗,但遗传和基因组信息开始影响妊娠管理。最近在对胎儿基因组进行测序方面的进展,结合使用基因表达阵列来理解胎儿生理学方面的进展,表明我们可能有技术能力将个性化医学方法应用于胎儿。在这里,我回顾了产前遗传诊断的最新进展、这些新技术所带来的挑战,以及如何利用从中获得的信息来促进胎儿护理。从历史上看,产前诊断的目标是为未来的父母提供知情选择。我们现在正处于一个可以而且应该将这一目标扩展到纳入遗传、基因组和转录组数据,以开发新的胎儿治疗方法的阶段。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c41/4433004/da48ee96ea12/nihms-688282-f0001.jpg

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