Poon L L, Leung T N, Lau T K, Lo Y M
Lancet. 2000 Nov 25;356(9244):1819-20. doi: 10.1016/s0140-6736(00)03237-2.
Fetal DNA is present in maternal plasma, and a proportion of such DNA is seen in intact fetal cells. We investigated the use of fluorescence in-situ hybridisation (FISH) techniques on maternal plasma samples. In plasma samples obtained from three women carrying fetuses affected by trisomy 21 (Down's syndrome), we identified fetal cells with three chromosome-21 signals. These results show the feasibility of non-invasive detection of fetal chromosomal aneuploidy by maternal plasma analysis.
胎儿DNA存在于母体血浆中，并且其中一部分DNA存在于完整的胎儿细胞中。我们研究了荧光原位杂交（FISH）技术在母体血浆样本中的应用。在从三名怀有21三体综合征（唐氏综合征）胎儿的女性获得的血浆样本中，我们鉴定出具有三个21号染色体信号的胎儿细胞。这些结果表明通过母体血浆分析无创检测胎儿染色体非整倍性的可行性。
