Ferres Millie A, Hui Lisa, Bianchi Diana W
Mother Infant Research Institute, Tufts Medical Center and Floating Hospital for Children, Tufts University School of Medicine, Boston, Massachusetts.
Mercy Hospital for Women, Heidelberg, Victoria, Australia.
Am J Perinatol. 2014 Aug;31(7):577-82. doi: 10.1055/s-0034-1371706. Epub 2014 Mar 28.
Nearly two decades ago, the discovery of circulating cell-free fetal DNA in maternal blood created a paradigm shift in prenatal testing. Recent advances in DNA sequencing technology have facilitated the rapid translation of DNA-based testing into clinical antenatal care.
In this review, we summarize the technical approaches and current clinical applications of noninvasive testing using cell-free DNA in maternal plasma. We discuss the impact of these tests on clinical care, outline proposed integration models, and suggest future directions for the field.
The use of cell-free DNA in maternal blood for the detection of fetal rhesus D antigen status, fetal sex, and common whole chromosomal aneuploidies is now well established, although testing for aneuploidy is still considered screening and not diagnostic. Further advances in technology and bioinformatics may see future clinical applications extend to the noninvasive detection of fetal subchromosomal aneuploidy, single gene disorders, and the entire fetal genome.
近二十年前，母血中循环游离胎儿DNA的发现使产前检测发生了范式转变。DNA测序技术的最新进展推动了基于DNA的检测迅速转化为临床产前护理。
在本综述中，我们总结了使用母血浆中游离DNA进行无创检测的技术方法和当前临床应用。我们讨论了这些检测对临床护理的影响，概述了提议的整合模式，并为该领域提出了未来方向。
母血中游离DNA用于检测胎儿恒河猴D抗原状态、胎儿性别和常见的全染色体非整倍体现已得到充分证实，尽管非整倍体检测仍被视为筛查而非诊断。技术和生物信息学的进一步进展可能会使未来的临床应用扩展到胎儿亚染色体非整倍体、单基因疾病和整个胎儿基因组的无创检测。
