A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States

Abstract

Background: Non-invasive prenatal testing (NIPT) is a relatively new technology for diagnosis of fetal aneuploidies. NIPT is more accurate than conventional maternal serum screening (MSS) but is also more costly. Contingent NIPT may provide a cost-effective alternative to universal NIPT screening. Contingent screening used a two-stage process in which risk is assessed by MSS in the first stage and, based on a risk cutoff, high-risk pregnancies are referred for NIPT. The objective of this study was to (1) determine the optimum MSS risk cutoff for contingent NIPT and (2) compare the cost effectiveness of optimized contingent NIPT to universal NIPT and conventional MSS.

Study design: Decision-analytic model using micro-simulation and probabilistic sensitivity analysis. We evaluated cost effectiveness from three perspectives: societal, governmental, and payer.

Results: From a societal perspective, universal NIPT dominated both contingent NIPT and MSS. From a government and payer perspective, contingent NIPT dominated MSS. Compared to contingent NIPT, adopting a universal NIPT would cost $203,088 for each additional case detected from a government perspective and $263,922 for each additional case detected from a payer perspective.

Conclusions: From a societal perspective, universal NIPT is a cost-effective alternative to MSS and contingent NIPT. When viewed from narrower perspectives, contingent NIPT is less costly than universal NIPT and provides a cost-effective alternative to MSS.

Fig 1. Decision tree diagram for universal NIPT.

We assumed that women with failed NIPT would be tested with serum screening and that women with a serum screen risk greater or equal to 1:270 would be offered diagnostic testing. The decision tree is continued in the diagnostic testing tree (Fig 4).

Fig 2. Decision tree diagram for contingent NIPT.

We assumed that women with failed NIPT whose risk was higher than or equal to 1:270 on the initial serum screen would be offered diagnostic testing. The decision tree is continued in the diagnostic testing tree (Fig 4).

Fig 3. Decision tree diagram for MSS.

The decision tree is continued in the diagnostic testing tree (Fig 4).

Fig 4. Decision tree diagram for diagnostic testing.

Fig 5. One-way sensitivity analysis of universal NIPT vs MSS from a societal perspective.

Below are the one-way sensitivity analysis results of the ICER between universal NIPT and MSS. Universal NIPT is less costly than MSS as long as the cost of NIPT remains below $619.

Fig 6. Scatter plot of probabilistic sensitivity analysis, universal NIPT vs MSS.

The figure below plots the incremental cost and effectiveness results from 1,000 simulations. Compared to MSS, there is a 100% probability that universal NIPT is more effective and 91.8% probability that universal NIPT is less costly.

Fig 7. One-way sensitivity analysis of contingent NIPT vs MSS from a government perspective.

Below are the one-way sensitivity analysis results of ICER between contingent NIPT and MSS. Contingent NIPT is less costly than MSS as long as the cost of NIPT remains below $663.

Fig 8. Scatter plot of probabilistic sensitivity analysis of contingent NIPT vs. MSS from a government perspective.

The figure below plots the incremental cost and effectiveness results from 1,000 simulations. Compared to MSS, there is a 100% probability that contingent NIPT is more effective and a 87% probability that contingent NIPT is less costly.

Fig 9. One-way sensitivity analysis of contingent NIPT vs MSS from a payer perspective.

Below are the one-way sensitivity analysis results of ICER between contingent NIPT and MSS. Contingent NIPT is more costly than MSS as long as the cost of NIPT is above $293, contingent NIPT uptake is above 72%, and the cost of invasive screening is below $1,235.

Fig 10. Scatter plot of probabilistic sensitivity analysis of contingent NIPT vs MSS from payer perspective.

The figure below plots the incremental cost and effectiveness results from 1,000 simulations. Compared to MSS, there is a 100% probability that contingent NIPT is more effective but a 73.2% probability that contingent NIPT is more costly.