Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

Objective: We report on the retrospective diagnosis of Nijmegen breakage syndrome (NBS) confirmed by molecular genetic analysis and consecutive prenatal diagnosis in the same family.

Method: Thirteen years after the death of their daughter due to fatal recurrent infections, a couple presented in our genetic counselling unit asking for the recurrence risk of their daughter's disease. Retrospective analysis of the medical record suggested that the girl might have suffered from NBS.