A cost-effectiveness analysis comparing different strategies to implement noninvasive prenatal testing into a Down syndrome screening program

Background: Currently, noninvasive prenatal testing (NIPT) is only recommended in high-risk women following conventional Down syndrome (DS) screening, and it has not yet been included in the Australian DS screening program.

Aims: To evaluate the cost-effectiveness of different strategies of NIPT for DS screening in comparison with current practice.

Methods: A decision-analytic approach modelled a theoretical cohort of 300,000 singleton pregnancies. The strategies compared were the following: current practice, NIPT as a second-tier investigation, NIPT only in women >35 years, NIPT only in women >40 years and NIPT for all women. The direct costs (low and high estimates) were derived using both health system costs and patient out-of-pocket expenses. The number of DS cases detected and procedure-related losses (PRL) were compared between strategies. The incremental cost per case detected was the primary measure of cost-effectiveness.

Results: Universal NIPT costs an additional $134,636,832 compared with current practice, but detects 123 more DS cases (at an incremental cost of $1,094,608 per case) and avoids 90 PRL. NIPT for women >40 years was the most cost-effective strategy, costing an incremental $81,199 per additional DS case detected and avoiding 95 PRL.

Conclusions: The cost of NIPT needs to decrease significantly if it is to replace current practice on a purely cost-effectiveness basis. However, it may be beneficial to use NIPT as first-line screening in selected high-risk patients. Further evaluation is needed to consider the longer-term costs and benefits of screening.