First- and second-trimester evaluation of risk for Down syndrome

Area of Science:

• Maternal-fetal medicine
• Prenatal diagnostics
• Health economics

Background:

• Down syndrome screening aims to identify pregnancies at risk.
• Various screening methods exist with differing costs and efficacies.
• The First and Second Trimester Evaluation of Risk (FASTER) Trial provided data for comparative analysis.

Purpose of the Study:

• To compare the costs and outcomes of seven different Down syndrome screening strategies.
• To identify the most cost-effective screening approach using FASTER Trial data.

Main Methods:

• Evaluated seven Down syndrome screening options: Triple Screen, Quad, Combined First, Integrated, Serum Integrated, Stepwise Sequential, and Contingent Sequential.
• Utilized detection rates at a 5% false-positive rate (4.3% for Contingent Sequential).
• Assessed societal costs, Down syndrome identification rates, quality-adjusted life years, and incremental cost-utility ratios.

Main Results:

• The Contingent Sequential strategy demonstrated superior cost-effectiveness, with lower overall costs ($32.3 million) compared to other methods ($32.8–$37.5 million).
• Contingent Sequential identified the most Down syndrome fetuses with the lowest cost per case diagnosed ($690,427).
• This strategy yielded the highest quality-adjusted life years due to a lower false-positive rate and fewer procedure-related miscarriages.

Conclusions:

• The Contingent Sequential screening test is the most cost-effective option based on FASTER Trial data.
• Findings support the Contingent Sequential approach for future Down syndrome screening policy development.