Harraway James
Aust Fam Physician. 2017 Oct;46(10):735-739.
Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand.
This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests. The clinical use of NIPT will also be discussed.
NIPT is now an established option for antenatal screening for trisomy 21, 18, 13 and other selected chromosomal abnormalities. If used appropriately, it increases the detection rate for fetal chromosomal abnormalities, while decreasing the number of invasive tests required. An understanding of the scientific basis of NIPT, and the appropriate clinical use and limitations, will enable medical practitioners to provide optimal antenatal screening.
无创产前检测（NIPT），也称为游离DNA检测和无创产前筛查（NIPS），是胎儿染色体异常筛查检测范围中的一项重要补充。特别是对于21三体综合征，NIPT优于其他筛查方式。然而，NIPT存在局限性和复杂性，要求临床医生及其患者应当了解。
这篇综述文章将简要描述NIPT检测的技术基础，并将NIPT的性能特征与现有筛查检测进行比较。还将讨论NIPT的临床应用。
NIPT现在是产前筛查21、18、13三体综合征及其他选定染色体异常的既定选择。如果使用得当，它可提高胎儿染色体异常的检测率，同时减少所需的侵入性检测数量。了解NIPT的科学基础以及适当的临床应用和局限性，将使医疗从业者能够提供最佳的产前筛查。
