Abstract
A case is reported of a male fetus at risk of X-linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix-up was excluded by chromosome analysis and analysis of polymorphic markers. This is the second report of a fetus affected with this disorder who showed normal cultured chorionic villus cell VLCFAs. It highlights the importance of a proper audit of all prenatal diagnoses to evaluate method reliability
Original language | English |
---|---|
Pages (from-to) | 486-490 |
Journal | Prenatal diagnosis |
Volume | 15 |
Issue number | 5 |
DOIs |
|
Publication status | Published - 1995 |