Tags: Health Economics, 2023, Canada, RAAs, CNVs

• Based on results of this simulation study, the most effective and most cost-effective option in almost all screening strategies is the one that includes all additional targeted conditions (SCAs, 22q11.2 deletions syndrome, large deletions/duplications >7 Mb and RATs).
• “The acceptability curves show that at a willingness-to-pay of $C50 000 per one additional case detected, the expansion of NIPS-based methods for the detection of all possible additional conditions has a 90% probability of being cost-effective.”
• “Conclusion: From an economic perspective, in strategies that use NIPS as a first-tier screening test, expanding the programmes to detect any considered chromosomal anomalies other than the three common trisomies would be cost-effective. However, the potential expansion of prenatal screening programmes also requires consideration of societal issues, including ethical ones.”

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