Health-related quality of life in prenatal diagnosis

The objectives of this review include the conceptualization of the health-related quality of life effects of prenatal diagnosis and a brief summary of evidence on the short- and long-term effects of prenatal diagnosis on the health-related quality of life effects associated with chorionic villi sampling and genetic amniocentesis and the identification of important unresolved issues. Although this is not a systematic review, it is an update of published research on the utility approach to assessing the health-related quality of life in prenatal diagnosis. It is based on a search of publications by investigators known to be active in the area and a hand search of selected specialized journals. Important health states associated with prenatal diagnosis include both process (undergoing testing) and outcome. Empirical studies providing preference scores for health states associated with prenatal diagnosis highlight the importance of long-term outcomes relative to process. On average with respect to process, chorionic villi sampling is less burdensome than genetic amniocentesis. On average with respect to infrequent but potentially important outcomes as health states associated with diagnostic inaccuracy, genetic amniocentesis is less burdensome than chorionic villi sampling. Almost all of the existing evidence on the health-related quality of life effects of prenatal diagnosis reports on the experience of the women undergoing prenatal diagnosis. The preferences of partners have not been assessed. Furthermore, few studies have investigated subsequent reproductive behavior. Finally, there is considerable scope for the use of preference elicitation techniques in helping couples to decide on whether or not to undergo prenatal diagnosis and if they do, help them to choose the modality that best suites their preferences.