University of Medicine and Pharmacy "Carol Davila", Department of Obstetrics and Gynecology, Filantropia Hospital, 050474 Bucharest, Romania.
University of Medicine and Pharmacy "Carol Davila", Department of Family Medicine, 050474 Bucharest, Romania.
Medicina (Kaunas). 2020 Apr 23;56(4):199. doi: 10.3390/medicina56040199.
Here, we performed a descriptive analysis of Down syndrome (DS) cases that were misdiagnosed and/or false-negative diagnosed after first trimester traditional screening via risk evaluation using ultrasound, biochemical markers, and different software programs. Our objective was to demonstrate the clear need to improve the application of prenatal DS screening programs using standardized ultrasound measurements, accurate pregnancy dating, analytical immunoassay performance, and properly selected medians. We performed a database search for the period 2010-2015 to analyze DS cases that were false-negative diagnosed after the first trimester of pregnancy, before the introduction of cell free fetal DNA-based tests by Romanian laboratories in 2015. First-trimester screening was performed using two software programs for prenatal DS risk calculation: Astraia and Prisca. The rationale for using both software programs was to assess the full risk using the maternal age combined test (based on nuchal translucency thickness, nasal bone, ductus venosus flow, tricuspid flow, free beta-human chorionic gonadotropin level, and serum pregnancy-associated plasma protein-A) and, in some cases, the triple test. We identified seven DS cases that exhibited low risk for trisomy 21, and 6540 cases with a low risk for trisomy 21 and euploid fetus in the first trimester. Using Astraia software, 14 cases were diagnosed, and three cases were missed after risk calculation. Using Prisca software, four cases were missed. Additionally, one neonate had a missed prenatal diagnosis of atrio-ventricular canal defect. In Romania, the evaluation of DS risk depends on patient choice (without knowing the accuracy of the utilized tests) and on the operators' skills. Both Astraia and Prisca software were developed by experts, who can prove their performance in DS screening. However, even in an ideal situation, false-negative results are possible. The application of first and second-trimester combined screening based on biochemical markers could be improved by the implementation of standardized protocols, professional guidelines for test application, and audit control.
在这里，我们对通过超声、生化标志物和不同软件程序进行风险评估后，在第一孕期传统筛查中误诊和/或漏诊的唐氏综合征（DS）病例进行了描述性分析。我们的目的是证明在使用标准化超声测量、准确的妊娠分期、分析免疫测定性能和适当选择中位数的情况下，迫切需要改进产前 DS 筛查计划的应用。我们对 2010 年至 2015 年期间的数据库进行了搜索，以分析 2015 年罗马尼亚实验室引入基于游离胎儿 DNA 的测试之前在妊娠第一孕期漏诊的 DS 病例。第一孕期筛查使用两种产前 DS 风险计算软件程序进行：Astraia 和 Prisca。使用这两种软件程序的原因是评估使用母体年龄联合测试（基于颈项透明层厚度、鼻骨、静脉导管血流、三尖瓣血流、游离β-人绒毛膜促性腺激素水平和血清妊娠相关血浆蛋白-A）和在某些情况下使用三联测试的全面风险。我们发现 7 例 DS 病例表现为 21 三体低风险，6540 例病例在第一孕期中表现为 21 三体低风险和正常胎儿。使用 Astraia 软件，在风险计算后诊断出 14 例，漏诊 3 例。使用 Prisca 软件，漏诊 4 例。此外，一名新生儿患有房室管缺损的产前漏诊。在罗马尼亚，DS 风险的评估取决于患者的选择（不知道所用测试的准确性）和操作人员的技能。Astraia 和 Prisca 软件均由专家开发，他们可以证明其在 DS 筛查中的性能。然而，即使在理想的情况下，也可能出现假阴性结果。通过实施标准化协议、测试应用的专业指南和审核控制，可以改进基于生化标志物的第一和第二孕期联合筛查的应用。
