title: Can infantile hereditary agranulocytosis be diagnosed prenatally?
abstract: Fetoscopy and fetal blood sampling were performed in an attempt at prenatal monitoring of a pregnancy at risk for infantile hereditary agranulocytosis (Kostmann's disease). In smears of fetal blood three segmented neutrophils were found out of 200 nucleated cells (1 1/2 per cent). Their presence, although in a lower percentage than in six age-matched controls, was considered to indicate that the fetus was not affected. The newborn infant has developed normally and at the age of four months has a normal number of segmented neutrophils in his peripheral blood. Feasibility of prenatal diagnosis of infantile hereditary agranulocytosis is discussed.
mesh_terms: D000328:Adult; D000380:Agranulocytosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005332:Fetoscopy; D006801:Humans; D007958:Leukocyte Count; D010375:Pedigree; D011296:Prenatal Diagnosis / Q000379:methods*