A Cost-Effectiveness Analysis of Screening Strategies Involving Non-Invasive Prenatal Testing for Trisomy 21

In accordance with social development, the proportion of advanced maternal age (AMA) increased and the cost of non-invasive prenatal testing (NIPT) decreased.

We aimed to investigate the benefits and cost-effectiveness of NIPT as primary or contingent strategies limited to the high-risk population of trisomy 21 (T21).

Referring to parameters from publications or on-site verification, a theoretical model involving 1,000,000 single pregnancies was established. We presented five screening scenarios, primary NIPT (Strategy 1), contingent NIPT after traditional triple serum screening higher than 1/300 or 1/1,000 (Strategy 2-1 or 2-2), and age-based Strategy 3. Strategy 3 was stratified, with the following options: (1) for advanced maternal age (AMA) of 40 years and more, diagnostic testing was offered, (2) for AMA of 35-39 years, NIPT was introduced, (3) if younger than 35 years of age, contingent NIPT with risk higher than 1:300 (Strategy 3-1) or 1:1,000 (Strategy 3-2) will be offered. The primary outcome was an incremental cost analysis on the baseline and alternative assumptions, taking aging society, NIPT price, and compliance into consideration. The strategy was "appropriate" when the incremental cost was less than the cost of raising one T21 child (0.215 million US$). The second outcome included total cost, cost-effect, cost-benefit analysis, and screening efficiency.

Strategy1 was costly, while detecting most T21. Strategy 2-1 reduced unnecessary prenatal diagnosis (PD) and was optimal in total cost, cost-effect, and cost-benefit analysis, nevertheless, T21 detection was the least. Strategy 3 induced most of the PD procedures. Then, setting Strategy2-1 as a baseline for incremental cost analysis, Strategy 3-1 was appropriate. In sensitivity analysis, when the NIPT price was lower than 47 US$, Strategy 1 was the most appropriate. In a society with more than 20% of people older than 35 years of age, the incremental cost of Strategy 3-2 was proper.

Combined strategies involving NIPT reduced unnecessary diagnostic tests. The AMA proportion and NIPT price played critical roles in the strategic decision. The age-based strategy was optimal in incremental cost analysis and was presented to be prominent as AMA proportion and NIPT acceptance increased. The primary NIPT was the most effective, but only at a certain price, it became the most cost-effective strategy.