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To provide a means for the prenatal diagnosis of CGD, we combined a modified nitroblue tetrazolium (NBT) slide test with quinacrine staining for Y chromosome fluorescence. Blood samples (10 μ1) are applied to glass slides and the adherent cells incubated with NBT and phorbol myristate acetate, an activator of oxidative metabolism. Resultant metabolic activity produces microscopically observable formazan particles in 99-100% of adult and 95-100% of fetal granulocytes (PMN), in 0-1% of PMN from 4 CGD patients, and in 18-53% of PMN from 3 obligate CGD carriers. Since placental venipuncture samples are often contaminated with maternal blood, it is necessary to distinguish fetal and maternal cells in such mixtures. Quinacrine staining reveals a Y-body in 50-90% of male fetal PMN. Such identification of male PMN by Y-fluorescence allows detection and assessment of oxidative activity of CGD cells diluted 1:100 in maternal cells. Thus, the modified NBT slide test with quinacrine staining of blood obtained by placental venipuncture provides a method for the prenatal diagnosis of CGD in male fetuses at risk for the X-linked or autosomal recessive forms of the disease.

547 A METHOD FOR THE PRENATAL DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE (CGD)