Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR , PR China.
Clin Chem Lab Med. 2012 Jun;50(6):995-8. doi: 10.1515/CCLM.2011.765.
Fetal DNA is present at an approximate mean fractional concentration of 10% in the plasma of pregnant women. The detection of paternally-inherited DNA sequences that are absent in the maternal genome, e.g., Y chromosomal sequences for fetal sexing and the RHD gene for blood group genotyping, is well established. The recent emergence of single molecule counting technologies, such as digital polymerase chain reaction and massively parallel sequencing has allowed circulating fetal DNA to be used for the non-invasive prenatal diagnosis of fetal chromosomal aneuploidies and monogenic diseases. With large scale clinical validation and further reduction in costs, it is expected that the analysis of circulating fetal DNA will play an increasingly important role in the future practice of prenatal diagnosis.
胎儿 DNA 约占孕妇血浆中总游离 DNA 的 10%。目前已经建立了检测母体基因组中不存在的父系遗传 DNA 序列的方法，例如用于胎儿性别鉴定的 Y 染色体序列和用于血型基因分型的 RHD 基因。最近出现的单分子计数技术，如数字聚合酶链反应和大规模平行测序，使得循环胎儿 DNA 可用于非侵入性产前诊断胎儿染色体非整倍体和单基因疾病。随着大规模临床验证和成本进一步降低，预计分析循环胎儿 DNA 将在未来的产前诊断实践中发挥越来越重要的作用。
