Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, People's Republic of China.
Open Biol. 2012 Jun;2(6):120086. doi: 10.1098/rsob.120086.
The presence of foetal DNA in the plasma of pregnant women has opened up new possibilities for non-invasive prenatal diagnosis. The use of circulating foetal DNA for the non-invasive prenatal detection of foetal chromosomal aneuploidies is challenging as foetal DNA represents a minor fraction of maternal plasma DNA. In 2007, it was shown that single molecule counting methods would allow the detection of the presence of a trisomic foetus, as long as enough molecules were counted. With the advent of massively parallel sequencing, millions or billions of DNA molecules can be readily counted. Using massively parallel sequencing, foetal trisomies 21, 13 and 18 have been detected from maternal plasma. Recently, large-scale clinical studies have validated the robustness of this approach for the prenatal detection of foetal chromosomal aneuploidies. A proof-of-concept study has also shown that a genome-wide genetic and mutational map of a foetus can be constructed from the maternal plasma DNA sequencing data. These developments suggest that the analysis of foetal DNA in maternal plasma would play an increasingly important role in future obstetrics practice. It is thus a priority that the ethical, social and legal issues regarding this technology be systematically studied.
孕妇血浆中胎儿 DNA 的存在为无创性产前诊断开辟了新的可能性。利用循环胎儿 DNA 进行无创性产前检测胎儿染色体非整倍体是具有挑战性的，因为胎儿 DNA 仅占母体血浆 DNA 的一小部分。2007 年，有人证明，只要计数足够的分子，单分子计数方法将允许检测三体胎儿的存在。随着大规模平行测序的出现，数以百万计或数十亿计的 DNA 分子可以很容易地被计数。利用大规模平行测序，已经从母体血浆中检测到了 21、13 和 18 三体。最近，大规模的临床研究验证了这种方法在产前检测胎儿染色体非整倍体方面的稳健性。一项概念验证研究还表明，可以从母体血浆 DNA 测序数据中构建胎儿的全基因组遗传和突变图谱。这些发展表明，母体血浆中胎儿 DNA 的分析将在未来的产科实践中发挥越来越重要的作用。因此，优先系统地研究这项技术的伦理、社会和法律问题是很有必要的。
