[Exclusion prenatal diagnosis of chronic familial septic granulomatosis].
We report the prenatal diagnosis in a 20 week male fetus at risk of chronic granulomatous disease (CGD). A previous affected brother was known in the family and the mother was detected as heterozygote. Three different assays were performed on fetal blood obtained under fetoscopy: cytochemical reduction of nitroblue tetrazolium (NBT), chemiluminescence after activation by opsonized zymosan or phorbol myristate acetate (PMA) and production of superoxide anion (O2-.). Results were comparable to those obtained in 6 fetuses investigated for other inherited diseases. Absence of functional polymorphonuclear defects was confirmed at birth. The use of 3 different techniques performed on whole blood for prenatal diagnosis of CGD has to be recommended instead of an isolated technique adapted to whole blood tests.
D005260:Female; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
Diagnostic anténatal d'exclusion de la granulomatose septique chronique familiale.