Age Indication or First Trimester Screening? – A Comparison of the Test performance and the Resulting Financial Consequences

Objective: In Germany every pregnant woman at age 35 or older has to be offered an invasive genetic testing [1–3]. An alternative strategy is provided by the first trimester screening (FTS) according to Nicolaides [4, 5]. It was the aim of this study to investigate the test performance of FTS and the resulting financial consequences in comparison to the age-indicated screening (AIS).

Material and methods: At the Medical University of Hanover 2,743 combined FTS have been performed at women between 16 and 45 years of age. For risk assessment the PIA Fetal Database® software was utilized and all measurements were recalculated by the NT-module of the JOY® software [6, 7]. If the result was suspect an invasive testing was offered.

Results: Both FTS methods reached a much better testperformance with a sensitivity of 85.7% and a false-negative-rate (FNR) of 14.3% than the AIS (sensitivity 42.9%, FNR 57.1%). Due to a specificity of 97.6% and a false-positive-rate (FPR) of 2.5% the JOY® software was superior to both PIA® software (specificity 96.5%, FPR 3.5%) and the AIS (specificity 96.5%, FPR 3.5%) (p<0.000001). When AIS is used as single test strategy, the cumulative costs in Germany would be 385 Mill. €. FTS with the PIA® or the JOY® software would reduce the costs to 196 Mill. € or 178.7 Mill. € respectively.

Conclusion: Analyzing the costs has the exclusive aim to estimate the financial effectivenes of each screening method. Using AIS is not longer contemporary and should be replaced by more effective screening methods. The JOY® software reached best results in a direct comparison of all methods.