Journal of Inherited Metabolic Disease

, Volume 12, Supplement 2, pp 263–266 | Cite as

Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience

  • G. T. N. Besley
  • D. M. Broadhead
Short Communication


Prenatal Diagnosis Chorionic Villus Zellweger Syndrome Amniotic Fluid Cell Propionic Acidemia 


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  1. Besley, G. T. N., Broadhead, D. M. and Young, J. A. GM2-gangliosidosis variant with altered substrate specificity: evidence for α-locus genetic compound. J. Inher. Metab. Dis., 10 (1987) 403–404PubMedCrossRefGoogle Scholar
  2. Besley, G. T. N., Ferguson-Smith, M. E., Frew, C., Morris, A. and Gilmore, D. H. First trimester diagnosis of Gaucher disease in a fetus with trisomy 21. Prenat. Diagn. 8 (1988) 471–474PubMedCrossRefGoogle Scholar
  3. Chadefaux, B., Augereau, C., Rabier, D., Rocchicciolo, F., Boue, J., Oury, J. F. and Kamoun, P. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl-CoA carboxylase. Prenat. Diagn. 8 (1988) 161–164PubMedCrossRefGoogle Scholar
  4. Kleijer, W. J., van Diggelen, O. P., Janse, H. C., Galjaard, H., Dumez, Y. and Boue, J. First trimester diagnosis of Hunter syndrome on chorionic villi. Lancet 2 (1984) 472PubMedCrossRefGoogle Scholar
  5. Poenaru, L. First trimester prenatal diagnosis of metabolic diseases. A survey in countries in the European Community Prenat. Diagn. 7 (1987) 333–341PubMedCrossRefGoogle Scholar
  6. Sachs, E. S., Jahoda, M. G. J., Kleijer, W. J., Pijpers, L. and Galjaard, H. Impact of first trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1000 cases. Am. J. Med. Genet. 29 (1988) 293–303PubMedCrossRefGoogle Scholar
  7. Vanier, M. T., Wenger, D. A., Comly, M. E., Rousson, R., Brady, R. O. and Pentchev, P. G. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin. Genet. 33 (1988) 331–348PubMedCrossRefGoogle Scholar
  8. Williams, J., Medearis, A. L., Chu, W. H., Kovacs, G. D. and Kaback, M. M. Maternal cell contamination in cultured chorionic villi: comparison of chromosome Q-polymorphisms derived from villi, fetal skin, and maternal lymphocytes. Prenat. Diagn. 7 (1987) 315–322PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer Netherlands 1989

Authors and Affiliations

  • G. T. N. Besley
    • 1
  • D. M. Broadhead
    • 1
  1. 1.Department of Paediatric BiochemistryRoyal Hospital for Sick ChildrenEdinburghUK

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