用孕妇血中胎儿物质产前诊断胎儿染色体异常研究进展

利用孕妇血中胎儿细胞、游离胎儿DNA/RNA对胎儿染色体病进行诊断一直是产前诊断领域研究热点.在研究的早期阶段,以胎儿有核红细胞作为产前诊断目标细胞,对其进行了大量研究.各种细胞分离技术被用于富集胎儿的有核红细胞.荧光原位杂交技术被用于分析浓缩的有核红细胞.但终因孕妇血中胎儿的有核红细胞含量极低,分离浓缩困难而没能用于临床.近年来研究人员发现,在母体血浆中存在胎儿核酸物质,利用母体血浆中胎儿DNA/RNA进行无创性产前诊断研究成为了另一个研究热点.与胎儿有核红细胞相比,在孕妇血中胎儿的核酸物质含量丰富.应用胎儿核酸诊断胎儿染色体非整倍体已成为可能.随着新的分子生物学技术的不断发展,这种无创性产前诊断技术有望应用于临床.本文对近年来用孕妇血中胎儿细胞和游离胎儿DNA、RNA无创性产前监测胎儿染色体非整倍体的研究进行综述.

Advances in prenatal diagnosis of fetal chromosomal aneuploidy by fetal materials in internal blood

The discovery of fetal cells and cell-free fetal DNA and RNA in maternal blood has led to new opportunities for noninvasive prenatal diagnosis. The potential application of this technology for the nonin-vasive prenatal detection of fetal chromosomal aneuploidies is an aspect of this field that is being actively inves-tigated. This article gives a review of the current state of the study.