Stanford University School of Medicine, 300 Pasteur Drive, HH333, Stanford, CA 94305.
Semin Perinatol. 2013 Oct;37(5):365-9. doi: 10.1053/j.semperi.2013.06.015.
Sonographic soft markers of fetal Down syndrome were first reported in the 1980s. With improvements in aneuploidy screening, detection rates of 90% and higher are possible, and such screening is offered to women of all ages. The utility of sonographic detection and reporting of soft markers, particularly to women at low risk of fetal aneuploidy, is controversial. Some soft markers have no additional significance beyond an association with aneuploidy, while some potentially indicate other pathology, and therefore require sonographic follow-up or other evaluation. The definitions of soft markers vary among reported series, and any practice using such markers to adjust the risk of aneuploidy should carefully determine the most appropriate definitions as well as likelihood ratios and how to apply these in practice.
超声软指标是胎儿唐氏综合征的首个指征,于 20 世纪 80 年代首次报道。随着非整倍体筛查的进步,其检出率可达 90%甚至更高,并且该筛查适用于所有年龄段的女性。然而,超声软指标的检测和报告的应用存在争议,特别是对于唐氏综合征风险低的女性。一些软指标除了与非整倍体相关外,没有其他额外的意义,而一些软指标可能提示其他病理,因此需要进行超声随访或其他评估。不同报道的软指标定义存在差异,任何使用这些指标来调整非整倍体风险的实践都应仔细确定最合适的定义、似然比以及如何在实践中应用这些定义。