Colosi Enrico, D'Ambrosio Valentina, Periti Enrico
a Center for Reproductive Medicine and BirthCare Program, Hospital Misericordia, Azienda USL Toscana Sud Est , Grosseto , Italy.
b Department of Experimental Medicine , University of Rome "Sapienza", Umberto I Hospital , Rome , Italy.
J Matern Fetal Neonatal Med. 2017 Dec;30(24):2905-2910. doi: 10.1080/14767058.2016.1268593. Epub 2017 Jan 4.
To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs.
We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20,831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A (Combined test). On the basis of our data, we estimated the performance and cost of screening for trisomies using three different models at specific cutoffs: Combined test; Cell free DNA test and Contingent screening test.
Using Combined test, DR for major trisomies was estimated to be 94.92%, invasive test rate was 6.3%. cfDNA would result in a DR of 97.92%, with an invasive test rate of 3.64%. Contingent screening approach would result in an overall DR of 97.82, with a rate for invasive procedure of 1.36% and a final cost lower than other screening policies (2,338,433 euro vs 5,796,060 of cfDNA and 2,385,473 of Combined test).
Contingent screening test could be a cost-efficient and feasible first trimester screening test for aneuploidies in public health system.
从检测率、侵入性检测率和最终成本方面评估三种不同的孕早期21 -三体、18 -三体和13 -三体筛查模型的有效性。
我们基于孕妇年龄、胎儿心率、颈项透明层厚度、游离β -人绒毛膜促性腺激素和妊娠相关血浆蛋白A（联合检测），分析了20831例单胎妊娠人群中21 -三体、18 -三体和13 -三体的风险分布。基于我们的数据，我们估计了在特定临界值下使用三种不同模型进行三体筛查的性能和成本：联合检测；游离DNA检测和应急筛查检测。
使用联合检测，主要三体的检测率估计为94.92%，侵入性检测率为6.3%。游离DNA检测的检测率为97.92%，侵入性检测率为3.64%。应急筛查方法的总体检测率为97.82%，侵入性检查率为1.36%，最终成本低于其他筛查策略（2338433欧元，而游离DNA检测为5796060欧元，联合检测为2385473欧元）。
应急筛查检测可能是公共卫生系统中一种具有成本效益且可行的孕早期非整倍体筛查检测方法。
