First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.
A first trimester prenatal diagnosis of adrenoleukodystrophy has been done on chorionic villi biopsy in the pregnancy of a carrier woman. Two different approaches allowed one to determine that the male fetus was affected: the linkage analysis of DNA from chorionic villi using the highly polymorphic probe St 14 and the determination of very long chain fatty acid levels in cultured chorionic villi.
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000032:analysis; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005227:Fatty Acids / Q000032:analysis*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014960:X Chromosome
D005227:Fatty Acids; D005819:Genetic Markers; D004247:DNA; C017364:hexacosanoic acid