Can infantile hereditary agranulocytosis be diagnosed prenatally? |
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Authors: | Gabriel Cividalli Shaul Yarkoni Hanna Dar Gertrude Kohn |
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Institution: | 1. Department of Pediatrics, Hebrew University—Hadassah Medical School, Jerusalem;2. Department of Obstetrics, Hebrew University—Hadassah Medical School, Jerusalem;3. Genetics Unit Rothschild University Hospital, Haifa, Israel;4. Department of Genetics, Hebrew University—Hadassah Medical School, Jerusalem |
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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 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. |
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Keywords: | Fetoscopy Fetal leukocytes Agranulocytosis |
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