A MISDIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY IN CULTURED CHRONIC VILLUS CELLS BY THE MEASUREMENT OF VERY LONG-CHAIN FATTY-ACIDS

A case is reported of a male fetus at risk of X-linked adrenoleucodyst rophy who showed a normal cultured chorionic villus cell very long cha in fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sam ple mix-up was excluded by chromosome analysis and analysis of polymor phic markers. This is the second report of a fetus affected with this disorder who showed normal cultured chorionic villus cell VLCFAs. It h ighlights the importance of a proper audit of all prenatal diagnoses t o evaluate method reliability.