title: A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids.
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.
authors.affiliation: Department of Clinical Chemistry, Children's Hospital, Birmingham, U.K.
authors.forename: R G
authors.initials: RG
authors.lastname: Gray
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: T
authors.initials: T
authors.lastname: Cole
authors.forename: V
authors.initials: V
authors.lastname: Davidson
authors.forename: M
authors.initials: M
authors.lastname: Giles
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000378:metabolism*; D015193:Chorionic Villi Sampling; D005188:False Negative Reactions; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014960:X Chromosome
chemical_list: D005227:Fatty Acids