Summary
Experience with first trimester diagnosis of inherited metabolic disease is still limited. In this report, data are collected from four major centres in the UK which provide a prenatal diagnosis service based on specific enzyme or gene product assay. The data were presented at a workshop on ‘First Trimester Diagnosis of Inherited Metabolic Disease’ held at the Institute of Child Health, London, on 21st June 1990.
Approximately 100 different metabolic diseases can now be diagnosed in the first trimester, but because of the rarity of many of the disorders, experience of positive diagnoses, based on enzyme deficiency in fresh chorionic villus samples (CVS), cultured villus cells or early amniocentesis samples, is likely to be limited. It is, however, important that these results are reported and similarly that any problems which arise are fully documented.
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References
Fowler, B., Giles, L., Sardharwalla, I. B. and Clayton, J. K. First trimester diagnosis of methylmalonic acidura.Prenatal Diagnosis 8 (1988) 207–213
Galjaard, H. Biochemical analysis of chorionic villi: a worldwide survey of first trimester fetal diagnosis of inborn errors of metabolism. In: Fraccaro, M., Simoni, G. and Brambati, B. (eds.),First Trimester Diagnosis, Springer-Verlag, Berlin, 1985, pp. 209–217
Poenaru, L. First trimester diagnosis of metabolic diseases: A survey in countries from the European Community.Prenatal Diagnosis 7 (1987) 333–341
Sanguinetti, N., Marsh, J., Jackson, M., Fensom, A. H., Warren, R. C. and Rodeck, C. H. The arylsulphatases of chorionic villi: potential problems in the first trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease.Clin. Genet. 30 (1986) 302–308
Vimal, C. M., Fensom, A. H., Heaton, D., Ward, R. H. T., Garrod, P. and Penketh, R. J. A. Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi.Lancet 2 (1984) 521–522
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Experience in the UK was brought together at the workshop. The publication of the accumulated experience by the four major laboratories was agreed to be useful, especially since there are no official statistics available, except some for Scotland. These first trimester diagnoses, although effective, are also costly. Although imperfect, the overview of incidence provided is of some help in guiding efforts to diagnose index cases, for example for MPS I and II which are relatively common. The editors hope that this type of report will help provide clinically, scientifically and administratively useful information to bridge the gaps between ‘research’ papers and (case) reports and, later, large scale reviews and then monographs and textbooks.
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Besley, G.T.N., Young, E.P., Fensom, A.H. et al. First trimester diagnosis of Inherited Metabolic Disease: Experience in the UK. J Inherit Metab Dis 14, 128–133 (1991). https://doi.org/10.1007/BF01800583
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DOI: https://doi.org/10.1007/BF01800583