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

To compare the efficacy and cost effectiveness of different screening programs for fetal Down syndrome (DS).

Screening tools evaluated included maternal age, triple screening (TS), and ultrasound (U/S) for fetal markers of DS. Sensitivities used were TS: 55% <35 years, 80% > or = 35 years; U/S: 70%. Average regional fees used were TS: $80, U/S: $200, amniocentesis (AM): $1,000. Five screening programs were evaluated: 1) <35 years, no screening; > or = 35 years, AM; 2) <35 years, TS with AM for screen-positive subjects; > or = 35 years, AM; 3) all patients, TS with AM for screen-positive subjects; 4) <35 years, TS followed by U/S for screen-positive women, AM for women with fetal markers of DS on U/S; > or = 35 years TS with AM for screen-positive subjects; 5) all women, TS followed by U/S for screen-positive women, AM for women with fetal markers of DS on U/S. The sensitivity, total cost, cost/case DS detected (Cost/DS), AM losses, and residual risk (RR, undetected DS fetuses/women not receiving AM) were calculated for each screening program. Population analysis was performed using 1988 IL delivery statistics.

It was estimated that 260 cases of DS would occur in the population of 167,654 women (8.4% > or = 35 years at delivery). Sensitivity for programs 1-5 was 30, 69, 62, 51, and 36 percent, respectively, and cost/DS was 181,000, 203,000, 162,000, 151,000, and 194,000 dollars, respectively.

DS screening incorporating TS in all patients with program #4 and without program #3 selective U/S in women <35 years yield the best combination of sensitivity and cost effectiveness while minimizing the number of AM-related losses.