Maron Jill L, Bianchi Diana W
Department of Pesiatrics, Tufts-New England Center, Boston, MA 02111, USA.
Am J Med Genet C Semin Med Genet. 2007 Feb 15;145C(1):5-17. doi: 10.1002/ajmg.c.30115.
The ability to detect cell-free fetal nucleic acids in pregnant women has greatly evolved over the past decade. Dozens of papers have explored the biology, kinetics, and clinical significance of both cell-free fetal DNA and mRNA in the maternal circulation. As a result, our overall understanding of fetal nucleic acid trafficking has expanded. To date, two applications, gender determination and fetal RhD status, have translated into clinical medicine. However, with advanced molecular techniques such as mass spectrometry, real-time quantitative polymerase chain reaction, and gene expression arrays, the ease with which fetal genes can be detected within the mother has greatly improved. Newly identified placental and fetal mRNA transcripts as well as an epigenetically modified placental DNA marker, maspin, have universal applicability. Global expression analyses of fetal mRNA in both amniotic fluid and blood provide new insights into fetal development and pathology. Prenatal diagnosis is poised to evolve from detection of aneuploidy to detection of deviation from normal development, which should provide novel opportunities for fetal treatment.
在过去十年中，检测孕妇游离胎儿核酸的能力有了很大发展。几十篇论文探讨了母体循环中游离胎儿DNA和mRNA的生物学、动力学及临床意义。因此，我们对胎儿核酸转运的整体认识得到了扩展。迄今为止，性别鉴定和胎儿RhD状态这两项应用已转化到临床医学中。然而，借助质谱分析、实时定量聚合酶链反应和基因表达阵列等先进分子技术，在母亲体内检测胎儿基因的便捷性有了极大提高。新发现的胎盘和胎儿mRNA转录本以及一种表观遗传修饰的胎盘DNA标志物——组织蛋白酶抑制剂，具有广泛的适用性。对羊水和血液中胎儿mRNA的整体表达分析为胎儿发育和病理学提供了新的见解。产前诊断正从非整倍体检测向正常发育偏差检测发展，这将为胎儿治疗提供新的机遇。
