A misdiagnosis of X‐linked adrenoleucodystrophy 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.
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False negative results in prenatal diagnosis of X-ALD by VLCFA analysis have been reported in two instances.
“since false negative results have been reported in two instances [Carey et al., 1994;Gray et al., 1995]”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Gray et al., 1995
Cites
Genomic organization of the adrenoleukodystrophy gene
Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., & Mandel, J.-L. (1994) · Genomics · doi:10.1006/geno.1994.1339 · Cited by 82 · see citing works
Kemp, S., Ligtenberg, M. J. L., Vangeel, B. M., Barth, P. G., Wolterman, R. A., Schoute, F., Sarde, C. O., Mandel, J. L., Vanoost, B. A., & Bolhuis, P. A. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.1979 · Cited by 75 · see citing works
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Research works printed but not linked: 13
- 10.1007/BF00293039 · DOI
- 10.1002/pd.1970140909 · DOI · Paper page
- 10.1136/jmg.27.11.670 · DOI
- Maniatis T., 1982, Molecular cloning—a Laboratory Manual
- 10.1203/00006450-198203000-00002 · DOI
- 10.1159/000112170 · DOI · Paper page
- 10.1007/BF01799621 · DOI · Paper page
- 10.1038/361726a0 · DOI · Paper page
- 10.1007/BF00711818 · DOI
- 10.1007/BF00201845 · DOI
- 10.1016/0009-8981(87)90177-X · DOI
- 10.1002/pd.1970110407 · DOI
- 10.1007/BF01799620 · DOI
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Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
Self-citationBerger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
- Authors
- Gray, R. G. F., Green, A., Cole, T., Davidson, V., Giles, M., Schutgens, R. B. H., & Wanders, R. J. A.
- Affiliations
- Birmingham Children's Hospital (GB)
- Birmingham Women's Hospital (GB)
- Amsterdam UMC Location University of Amsterdam (NL)
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 1995-05
- Volume
- 15
- Issue
- 5
- Pages
- 486-490
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W1989682812
- Cited by
- 23
- References
- 2
- Citations by year
- 2022: 1 · 2021: 1 · 2015: 2 · 2012: 2
- FWCI
- 1.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Prenatal Diagnosis (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- very long chain fatty acids, misdiagnosis, cultured fibroblasts, plasma fatty acid profile, fetal diagnosis, diagnostic reliability
- MeSH terms
- Adrenoleukodystrophy, Cells, Cultured, Chorionic Villi, False Negative Reactions, Fatty Acids, Female, Humans, Genetic Linkage, Male, Pedigree, Pregnancy, X Chromosome, Chorionic Villi Sampling
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