Fetal Down syndrome screening: a cost effectiveness analysis of alternative screening programs

Area of Science:

• Prenatal screening and diagnosis
• Maternal-fetal medicine
• Genetics and genomics

Background:

• Fetal Down syndrome (DS) screening is crucial for informed reproductive decisions.
• Current screening methods vary in efficacy and cost.
• Optimizing screening protocols is essential to balance detection rates with resource utilization.

Purpose of the Study:

• To compare the diagnostic efficacy and cost-effectiveness of various fetal Down syndrome screening strategies.
• To evaluate different combinations of maternal age, triple screening (TS), and ultrasound (U/S) markers.
• To identify the most efficient screening program minimizing invasive procedures and costs.

Main Methods:

• Evaluated screening tools: maternal age, triple screening (TS), and ultrasound (U/S) for fetal Down syndrome markers.
• Calculated sensitivity, total cost, cost per case of DS detected (Cost/DS), amniocentesis (AM) losses, and residual risk (RR) for five distinct screening programs.
• Utilized 1988 Illinois delivery statistics for population-based analysis.

Main Results:

• Estimated 260 DS cases in a population of 167,654 women.
• Program sensitivities ranged from 30% to 69%.
• Cost per DS case detected varied significantly, with some programs costing over $200,000, while others were below $150,000.

Conclusions:

• Screening programs incorporating TS for all patients, with selective U/S for women under 35, offer the best balance of sensitivity and cost-effectiveness.
• Program #4 (TS followed by U/S for screen-positive women <35, TS with AM for women >=35) and Program #3 (TS for all, AM for screen-positive) showed promising results.
• These optimized strategies minimize amniocentesis-related losses while maximizing Down syndrome detection.