Rapid prenatal diagnosis of X‐linked chronic granulomatous disease using a denaturing high‐performance liquid chromatography (DHPLC) system

OBJECTIVE: To describe a family on whom it was possible to perform a rapid prenatal diagnosis for chronic granulomatous disease (CGD) using a denaturing high-performance liquid chromatography (DHPLC) system. METHODS: For a family whose first-born, a boy, suffered from X-linked chronic granulomatous disease, fetal DNA was obtained from an ongoing pregnancy by amniocentesis early in the second trimester. Denaturing high-performance liquid chromatography and direct sequencing were used to attempt to detect the previously identified X-linked chronic granulomatous disease mutation. RESULTS: Our studies predicted that the fetus in question was not likely to be affected by chronic granulomatous disease, which was demonstrated to be correct at birth. CONCLUSIONS: Here, we introduce a molecular diagnostic tool (DHPLC) for an effective and exact prenatal diagnosis of normality for the second-born child, as determined from amniocentesis during the second trimester.