Clin Chim Acta. 2014 Jan 20;428:44-50.
The identification of cell-free fetal DNA (cffDNA) in maternal circulation has made non-invasive prenatal testing (NIPT) possible. Maternal plasma cell free DNA is a mixture of maternal and fetal DNA, of which, fetal DNA represents a minor population in maternal plasma. Therefore, methods with high sensitivity and precision are required to detect and differentiate fetal DNA from the large background of maternal DNA. In recent years, technical advances in the molecular analysis of fetal DNA (e.g., digital PCR and massively parallel sequencing (MPS)) has enabled the successful implementation of noninvasive testing into clinical practice, such as fetal sex assessment, RhD genotyping, and fetal chromosomal aneuploidy detection.With the ability to decipher the entire fetal genome from maternal plasma DNA, we foresee that an increased number of non-invasive prenatal tests will be available for detecting many single-gene disorders in the near future. This review briefly summarizes the technical aspects of the NIPT and application of NIPT in clinical practice.
游离胎儿 DNA（cffDNA）在母体外周血中的鉴定使得无创产前检测（NIPT）成为可能。母体血浆中的游离细胞 DNA 是母体和胎儿 DNA 的混合物，其中胎儿 DNA 仅占母体血浆中很小的一部分。因此，需要高灵敏度和高精度的方法来检测和区分胎儿 DNA 与大量的母体 DNA 背景。近年来，胎儿 DNA 的分子分析技术（如数字 PCR 和大规模平行测序（MPS））的进步，使非侵入性检测成功应用于临床实践，如胎儿性别鉴定、RhD 基因型检测和胎儿染色体非整倍体检测。通过从母体血浆 DNA 中破译整个胎儿基因组，我们预计在不久的将来将有更多的无创产前检测可用于检测许多单基因疾病。本文简要综述了 NIPT 的技术方面及其在临床实践中的应用。
