Prenatal genetics has evolved over the last decade to include application of new 'omics technologies to improve perinatal care. The clinical utility of these technologies when applied to direct fetal specimens from amniocentesis or chorionic villus sampling is being explored. In this review, we provide an overview of use of prenatal exome sequencing and role in evaluation of the structurally abnormal fetus, potential applications of genome sequencing, and finally, use of transcriptomics to assess placental and fetal well-being.

中文翻译：

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下一代测序和产前组学：先进的诊断和对人类发展的新见解。

在过去的十年中，产前遗传学已经发展到包括应用新的“组学技术”来改善围产期护理。正在探索这些技术在应用于从羊膜穿刺术或绒毛膜绒毛取样中直接获取胎儿标本时的临床效用。在这篇综述中，我们概述了产前外显子组测序的使用及其在评估结构异常胎儿中的作用、基因组测序的潜在应用，以及使用转录组学评估胎盘和胎儿的健康状况。