Prenatal Diagnosis of X-Linked Chronic Granulomatous Disease by Percutaneous Umbilical Blood Sampling

In this study, we investigated how to prenatally diagnose X-linked chronic granulomatous disease (X-CGD) effectively and accurately. Percutaneous umbilical blood sampling was conducted in the 22nd week of pregnancy. NADPH oxidase activity and gp91phox protein expression of neutrophils were analysed using flow cytometry. Direct sequencing was used to detect CYBB gene mutations. Umbilical blood was obtained from seven foetuses whose mothers were X-CGD carriers. Six foetuses, whose mothers needed prenatal diagnosis because of other diseases, were used as control. The neutrophils in all 13 foetuses showed lower hydrogen peroxide generation (stimulation index similar to