Prenatal diagnosis of perplexing cases of lipidoses

To present and discuss the technical, ethical and counseling difficulties that were encountered in the prenatal diagnosis of some perplexing cases of lipidoses. Four pregnant women were referred to us for prenatal diagnosis with the diagnosis of lipidosis in an affected sibling. (1) It is recommended to do the enzyme assays as the first choice in all cases suspected clinically to have lipidoses in order to establish the diagnosis instead of doing invasive procedures as liver and bone marrow biopsies. (2) Activity of more than one enzyme should be assayed to confirm specific deficiency against reference values. (3) Suspected prenatal diagnosis and indefinite diagnosis should only be considered after detailed and non-directive counseling (Tab. 1, Fig. 4, Ref. 5).