Cost-effectiveness analysis of prenatal diagnosis: Methodological issues and concerns

With increasing concerns regarding rapidly expanding health care costs, cost-effectiveness analysis (CEA) provides a methodology to assess whether marginal gains from new technology are worth the increased costs. In the arena of prenatal diagnosis, particular methodological and ethical concerns include whether the effects of such testing on individuals other than the patient are included, how termination of pregnancy is included in the models, redundancy of screening and diagnostic methods, and how screening may reassure or cause anxiety in patients depending on their results. The existing literature has demonstrated cost-effectiveness of screening and diagnosis of neural tube defects, Down syndrome, and cystic fibrosis in the general population. Screening for genetic disorders which have a higher prevalence among particular groups has also been shown to be cost effective, including diseases such as hemoglobinopathies and Tay-Sachs disease. Understanding the methodology and salient issues of CEA is critical for researchers, editors and clinicians to accurately interpret results of the growing body of cost-effectiveness studies in prenatal diagnosis. Copyright (C) 2005 S. Karger AG, Basel.