The expansion of abnormality and the biomedical norm: Neonatal screening, prenatal diagnosis and cystic fibrosis in France

Developments in biomedicine have remodelled the time-honoured questions of how to define the normal and the connection between the normal and the norm. This article deals with the expansion of the idea of abnormality through a study of the practices involved in neonatal screening for cystic fibrosis in France. It is based on observations made at meetings between paediatricians and geneticists involved in the screening programme, and a seven-month study in a tertiary care centre for cystic fibrosis. On one hand, the study highlights the technical limitations of screening, which have the effect of expanding biological abnormality. On the other, it deals with the rationales and associated practices used by health care professionals for paediatric monitoring that are behind the expansion of clinical abnormality. Lastly, the consequences of those practices are analysed at the point where neonatal screening and prenatal diagnosis meet, showing how the biomedical norm, with respect to foetuses, is altered. The political and moral space in which this development has occurred is discussed.