Recent advances of genomic testing in perinatal medicine.
Recent advances of genomic testing in perinatal medicine.
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DOI：
10.1053/j.semperi.2014.10.009
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发表时间：
2015-02
影响因子：
3.4
通讯作者：
Rajkovic A
中科院分区：
文献类型：
--
作者：
Peters DG;Yatsenko SA;Surti U;Rajkovic A
近年来基因组医学的快速发展使得在临床环境中常规诊断细微的遗传异常成为可能。这使得详细的基因型-表型相关性和许多先天性异常的遗传基础的鉴定成为可能。除了染色体微阵列分析之外，对产前和产后游离 DNA 样本进行外显子组和全基因组测序也彻底改变了产前诊断领域。这些技术在围产期病理学中的应用必将在未来几年发挥重要作用。在本次交流中，我们简要介绍了使用经典染色体分析、荧光原位杂交和微阵列检测的当前经验，通过下一代测序技术开发全基因组分析，详细回顾了使用游离DNA进行无创产前检测的历史和现状，并讨论了这些新的基因组技术在围产期医学中的出现。
Rapid progress in genomic medicine in recent years has made it possible to diagnose subtle genetic abnormalities in a clinical setting on routine basis. This has allowed for detailed genotype-phenotype correlations and the identification of the genetic basis of many congenital anomalies. In addition to the availability of chromosomal microarray analysis, exome and whole genome sequencing on pre- and postnatal samples of cell free DNA has revolutionized the field of prenatal diagnosis. Incorporation of these technologies in perinatal pathology is bound to play a major role in coming years. In this communication, we briefly present the current experience with use of classical chromosome analysis, fluorescence in situ hybridization, and microarray testing, development of whole genome analysis by next generation sequencing technology, offer a detailed review of the history and current status of noninvasive prenatal testing using cell free DNA, and discuss the advents of these new genomic technologies in perinatal medicine.