Abstract
Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus.
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- Arnon J., Ornoy A., Bach G. Cultured amniotic fluid cells for prenatal diagnosis of lysosomal storage disorders: a methodological study. Prenat Diagn. 1986 Sep-Oct;6(5):351–361. doi: 10.1002/pd.1970060503. [DOI] [PubMed] [Google Scholar]
- Bennett M. J., Allison F., Lowther G. W., Gray R. G., Johnston D. I., Fitzsimmons J. S., Manning N. J., Pollitt R. J. Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. Prenat Diagn. 1987 Feb;7(2):135–141. doi: 10.1002/pd.1970070210. [DOI] [PubMed] [Google Scholar]
- Besley G. T., Broadhead D. M., Nevin N. C., Nevin J., Dornan J. C. Prenatal diagnosis of mucolipidosis II by early amniocentesis. Lancet. 1990 May 12;335(8698):1164–1165. doi: 10.1016/0140-6736(90)91171-6. [DOI] [PubMed] [Google Scholar]
- Chadefaux B., Rabier D., Dumez Y., Oury J. E., Kamoun P. Eleventh week amniocentesis for prenatal diagnosis of metabolic diseases. Lancet. 1989 Apr 15;1(8642):849–849. doi: 10.1016/s0140-6736(89)92314-3. [DOI] [PubMed] [Google Scholar]
- Coude M., Chadefaux B., Rabier D., Kamoun P. Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias. Clin Chim Acta. 1990 Mar 15;187(3):329–332. doi: 10.1016/0009-8981(90)90118-c. [DOI] [PubMed] [Google Scholar]
- Diukman R., Zeigler M., Bach G. The distinction between arylsulphatases in chorionic villi. Prenat Diagn. 1988 Sep;8(7):531–537. doi: 10.1002/pd.1970080708. [DOI] [PubMed] [Google Scholar]
- Elias S., Mazur M., Sabbagha R., Esterly N. B., Simpson J. L. Prenatal diagnosis of harlequin ichthyosis. Clin Genet. 1980 Apr;17(4):275–280. doi: 10.1111/j.1399-0004.1980.tb00147.x. [DOI] [PubMed] [Google Scholar]
- Fowler B., Giles L., Cooper A., Sardharwalla I. B. Chorionic villus sampling: diagnostic uses and limitations of enzyme assays. J Inherit Metab Dis. 1989;12 (Suppl 1):105–117. doi: 10.1007/BF01799290. [DOI] [PubMed] [Google Scholar]
- Golbus M. S., Sagebiel R. W., Filly R. A., Gindhart T. D., Hall J. G. Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. N Engl J Med. 1980 Jan 10;302(2):93–95. doi: 10.1056/NEJM198001103020205. [DOI] [PubMed] [Google Scholar]
- Holm J., Ponders L., Sweetman L. Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid. J Inherit Metab Dis. 1989;12 (Suppl 2):271–273. doi: 10.1007/BF03335395. [DOI] [PubMed] [Google Scholar]
- Holzgreve W., Golbus M. S. Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy. Am J Hum Genet. 1984 Mar;36(2):320–328. [PMC free article] [PubMed] [Google Scholar]
- Horn N., Mooy P., McGuire V. M. Menkes X linked disease: two clonal cell populations in heterozygotes. J Med Genet. 1980 Aug;17(4):262–266. doi: 10.1136/jmg.17.4.262. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jakobs C., Sweetman L., Nyhan W. L., Packman S. Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. J Inherit Metab Dis. 1984;7(1):15–20. doi: 10.1007/BF01805614. [DOI] [PubMed] [Google Scholar]
- Mornet E., Boue J., Raux-Demay M., Couillin P., Oury J. F., Dumez Y., Dausset J., Cohen D., Boué A. First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination. Hum Genet. 1986 Aug;73(4):358–364. doi: 10.1007/BF00279101. [DOI] [PubMed] [Google Scholar]
- Mossman J., Patrick A. D. Prenatal diagnosis of mucopolysaccharidosis by two-dimensional electrophoresis of amniotic fluid glycosaminoglycans. Prenat Diagn. 1982 Jul;2(3):169–176. doi: 10.1002/pd.1970020305. [DOI] [PubMed] [Google Scholar]
- Nevin J., Nevin N. C., Dornan J. C., Sim D., Armstrong M. J. Early amniocentesis: experience of 222 consecutive patients, 1987-1988. Prenat Diagn. 1990 Feb;10(2):79–83. doi: 10.1002/pd.1970100203. [DOI] [PubMed] [Google Scholar]
- Old J. M., Briand P. L., Purvis-Smith S., Howard N. J., Wilcken B., Hammond J., Pearson P., Cathelineau L., Williamson R., Davies K. E. Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis. Lancet. 1985 Jan 12;1(8420):73–75. doi: 10.1016/s0140-6736(85)91966-x. [DOI] [PubMed] [Google Scholar]
- Rebello M. T., Hackett G., Smith J., Loeffler F. E., Robson S., MacLachlan N., Beard R. W., Rodeck C. H., Williamson R., Coleman D. V. Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease. Prenat Diagn. 1991 Jan;11(1):41–46. doi: 10.1002/pd.1970110108. [DOI] [PubMed] [Google Scholar]
- Rey F., Berthelon M., Caillaud C., Lyonnet S., Abadie V., Blandin-Savoja F., Feingold J., Saudubray J. M., Frézal J., Munnich A. Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet. 1988 Dec;43(6):914–921. [PMC free article] [PubMed] [Google Scholar]
- Rhoads G. G., Jackson L. G., Schlesselman S. E., de la Cruz F. F., Desnick R. J., Golbus M. S., Ledbetter D. H., Lubs H. A., Mahoney M. J., Pergament E. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med. 1989 Mar 9;320(10):609–617. doi: 10.1056/NEJM198903093201001. [DOI] [PubMed] [Google Scholar]
- Rodeck C. H., Eady R. A., Gosden C. M. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet. 1980 May 3;1(8175):949–952. doi: 10.1016/s0140-6736(80)91404-x. [DOI] [PubMed] [Google Scholar]
- Schulman J. D., Fujimoto W. Y., Bradley K. H., Seegmiller J. E. Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report. J Pediatr. 1970 Sep;77(3):468–470. doi: 10.1016/s0022-3476(70)80020-8. [DOI] [PubMed] [Google Scholar]
- Shimozawa N., Suzuki Y., Orii T., Hashimoto T. Immunoblot detection of enzyme proteins of peroxisomal beta-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome. Prenat Diagn. 1988 May;8(4):287–290. doi: 10.1002/pd.1970080407. [DOI] [PubMed] [Google Scholar]
- Whittle M. J., Gilmore D. H., McNay M. B. Obstetric aspects of prenatal diagnostic methods. J Inherit Metab Dis. 1989;12 (Suppl 1):97–104. doi: 10.1007/BF01799289. [DOI] [PubMed] [Google Scholar]
- Winchester B. Prenatal diagnosis of enzyme defects. Arch Dis Child. 1990 Jan;65(1 Spec No):59–67. doi: 10.1136/adc.65.1_spec_no.59. [DOI] [PMC free article] [PubMed] [Google Scholar]

