Prenatal diagnosis of chronic granulomatous disease (CGD) in four high risk male fetuses

Prenatal diagnosis of chronic granulomatous disease (CGD) was performed in four male high risk fetuses. The male sex was previously determined by an amniotic cell karyotype. Three kinds of test were performed on fetal blood obtained by umbilical venous puncture under fetoscopy at the 20th gestational week: nitroblue tetrazolium reduction (NBT) cytochemical test with phorbol myristate acetate (PMA) as activator; luminol enhanced chemiluminescence with activation by serum opsonized zymosan (STZ) or PMA; superoxide anion (0  2− ) production by measurement of the superoxide dismutase inhibitable reduction of cytochrome c with PMA as activator.

[1]  R. McGraw,et al.  Application of molecular genetics to prenatal diagnosis and carrier detection in the hemophilias: some limitations. , 1985, Blood.

[2]  C. Disteche,et al.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. , 1985, American journal of human genetics.

[3]  D. Wara,et al.  Prenatal diagnosis of chronic granulomatous disease. , 1984, American journal of medical genetics.

[4]  S. Matsumoto,et al.  Chemiluminescence of whole blood. II. Application to clinical examination of phagocytic functions of whole blood from various types of disease. , 1983, Clinical immunology and immunopathology.

[5]  C. Rodeck,et al.  Phorbol myristate acetate stimulated NBT test: a simple method suitable for antenatal diagnosis of chronic granulomatous disease. , 1983, Clinical and experimental immunology.

[6]  P. Dri,et al.  The measurement of superoxide anion production by granulocytes in whole blood. A clinical test for the evaluation of phagocyte function and serum opsonic capacity , 1983, European journal of clinical investigation.

[7]  P. Newburger.  Superoxide Generation by Human Fetal Granulocytes , 1982, Pediatric Research.

[8]  N. Borregaard,et al.  PRENATAL DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE , 1982, The Lancet.

[9]  P. Newburger,et al.  Prenatal diagnosis of chronic granulomatous disease. , 1979, The New England journal of medicine.