Published 13 February 2009, doi:10.1136/bmj.b138
Cite this as: BMJ 2009;338:b138

Research

Comparison of different strategies in prenatal screening for Down’s syndrome: cost effectiveness analysis of computer simulation

¹ Centre de recherche du CHUQ, Service de Génétique Médicale, Unité de Diagnostic Prénatal, Faculté de Médecine, Université Laval, Québec city, Québec, Canada, ² Centre de recherche du CHUQ, Département de médecine sociale et préventive, Faculté de Médecine, Université Laval, Cité universitaire, Québec city, ³ Centre de recherche du CHUQ, Unité de Diagnostic Prénatal, Département d’Obstétrique-Gynécologie, Faculté de Médecine, Université Laval, Québec city, ⁴ Centre de recherche du CHUQ, Département de biologie médicale, Faculté de Médecine, Université Laval, The CanGèneTest research consortium on genetic laboratory services, Québec city

Objectives To assess and compare the cost effectiveness of three different strategies for prenatal screening for Down’s syndrome (integrated test, sequential screening, and contingent screenings) and to determine the most useful cut-off values for risk.

Design Computer simulations to study integrated, sequential, and contingent screening strategies with various cut-offs leading to 19 potential screening algorithms.

Data sources The computer simulation was populated with data from the Serum Urine and Ultrasound Screening Study (SURUSS), real unit costs for healthcare interventions, and a population of 110 948 pregnancies from the province of Québec for the year 2001.

Main outcome measures Cost effectiveness ratios, incremental cost effectiveness ratios, and screening options’ outcomes.

Results The contingent screening strategy dominated all other screening options: it had the best cost effectiveness ratio ($C26 833 per case of Down’s syndrome) with fewer procedure related euploid miscarriages and unnecessary terminations (respectively, 6 and 16 per 100 000 pregnancies). It also outperformed serum screening at the second trimester. In terms of the incremental cost effectiveness ratio, contingent screening was still dominant: compared with screening based on maternal age alone, the savings were $C30 963 per additional birth with Down’s syndrome averted. Contingent screening was the only screening strategy that offered early reassurance to the majority of women (77.81%) in first trimester and minimised costs by limiting retesting during the second trimester (21.05%). For the contingent and sequential screening strategies, the choice of cut-off value for risk in the first trimester test significantly affected the cost effectiveness ratios (respectively, from $C26 833 to $C37 260 and from $C35 215 to $C45 314 per case of Down’s syndrome), the number of procedure related euploid miscarriages (from 6 to 46 and from 6 to 45 per 100 000 pregnancies), and the number of unnecessary terminations (from 16 to 26 and from 16 to 25 per 100 000 pregnancies).

Conclusions Contingent screening, with a first trimester cut-off value for high risk of 1 in 9, is the preferred option for prenatal screening of women for pregnancies affected by Down’s syndrome.

© Gekas et al 2009
This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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