Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome

Abstract

Background: The perceptions of individuals with Down syndrome are conspicuously absent in discussions about the use of prenatal testing.

Method: Eight individuals with Down syndrome were interviewed about their views and experience of the topic of prenatal testing.

Results: Interpretative phenomenological analysis revealed two major themes with subthemes: (1) a devalued condition and a valued life and (2) a question of 'want?' Foucauldian discourse analysis highlighted two main discursive practices: (i) social deviance and (ii) tragedy and catastrophe of the birth of a baby with Down syndrome.

Conclusions: The findings suggest that individuals with intellectual disabilities can make a valuable contribution to discussions surrounding the use of prenatal testing. Implications for clinical practice include the use of information about Down syndrome given to prospective parents, and the possible psychological impact of prenatal testing practices on individuals with Down syndrome.

Keywords: Down syndrome; discourse analysis; prenatal genetic testing; qualitative methods.