Zwemer Lillian M, Bianchi Diana W
Mother Infant Research Institute, Tufts Medical Center, Boston, Massachusetts 02111.
Cold Spring Harb Perspect Med. 2015 Feb 13;5(4):a023101. doi: 10.1101/cshperspect.a023101.
Numerous recent studies have shown the power of cell-free fetal RNA, obtained from amniotic fluid supernatant, to report on the development of the living fetus in real time. Examination of these transcripts on a genome-wide basis has led to new insights into the prenatal pathophysiology of multiple genetic, developmental, and environmental diseases. Each studied condition presents a unique, characteristic fetal transcriptome, which points to specific disrupted molecular pathways. These studies have also improved our knowledge of the normal development of the human fetus, revealing gestational age-related dynamic gene expression from a variety of organs. Analysis of the fetal transcriptome in normal and abnormal development has led to novel approaches for in utero prenatal treatment.
最近大量研究表明，从羊水上清液中获取的游离胎儿RNA能够实时报告活胎儿的发育情况。在全基因组范围内对这些转录本进行检测，为多种遗传、发育和环境疾病的产前病理生理学带来了新的见解。每种研究的病症都呈现出独特的、具有特征性的胎儿转录组，这指向了特定的分子途径紊乱。这些研究还增进了我们对人类胎儿正常发育的了解，揭示了来自各种器官的与孕周相关的动态基因表达。对正常和异常发育中的胎儿转录组进行分析，催生了子宫内产前治疗的新方法。
