PRENATAL DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE

CHRONIC granulomatous disease of childhood is a disorder characterized by chronic recurrent infections beginning in the first year of life and resulting in death by the age of seven in one third of affected patients.1 The disease results from a functional defect in polymorphonuclear leukocytes and monocytes, which ingest normally but fail to kill certain bacteria and fungi.2 The metabolic defect is an inability to generate superoxide free radicals and related toxic oxygen species.3,4 There is a male-to-female case ratio of seven to one, reflecting the predominance of families with X-linked over autosomal recessive inheritance. The nitroblue tetrazolium slide test. © 1979, Massachusetts Medical Society. All rights reserved.