A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids.
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.
Gray
R G
RG
Department of Clinical Chemistry, Children's Hospital, Birmingham, U.K.
Green
A
A
Cole
T
T
Davidson
V
V
Giles
M
M
Schutgens
R B
RB
Wanders
R J
RJ
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
D005227:Fatty Acids