Cost analysis of Down syndrome screening in advanced maternal age

To analyze the potential cost and efficacy of Down syndrome screening in the population with advanced maternal age.

Three screening methods defining Down syndrome risk for women with advanced maternal age were analyzed: advanced maternal age; advanced maternal age and maternal serum triple screen; and advanced maternal age, maternal serum triple screen and genetic sonogram. Costs for all tests and procedures were estimated. Procedure-related loss for amniocentesis was assumed to be 1:200. Efficacy was defined as: number of amniocenteses performed, number of Down syndrome cases detected, procedure-related losses, Down syndrome cases detected per fetal loss, cost per Down syndrome case detected and total cost of screening.

In 1999 in the USA, there were 530,610 women with advanced maternal age at 16 weeks' gestation carrying an estimated 4,043 fetuses with Down syndrome. Screening by maternal age alone would result in the 100% detection of Down syndrome cases, but would require over 530,000 amniocenteses and result in 2,653 procedure-related losses. Combining age with serum screen and genetic sonogram would detect 97.6% of Down syndrome cases, but would require only 119,791 amniocenteses and result in 599 procedure-related losses. The projected cost per Down syndrome case detected using age screening is 219,109 dollars versus 155,992 dollars using serum screen and genetic sonogram.

The combination of advanced maternal age, maternal serum screen and genetic sonogram would result in the fewest procedure-related losses and lowest cost per Down syndrome case detected.