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. 1990 Jan;65(1 Spec No):59–67. doi: 10.1136/adc.65.1_spec_no.59

Prenatal diagnosis of enzyme defects.

B Winchester 1
PMCID: PMC1590174  PMID: 2407202

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Antonarakis S. E. Diagnosis of genetic disorders at the DNA level. N Engl J Med. 1989 Jan 19;320(3):153–163. doi: 10.1056/NEJM198901193200305. [DOI] [PubMed] [Google Scholar]
  2. Ben-Yoseph Y., Mitchell D. A., Nadler H. L. First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay. Clin Genet. 1988 Jan;33(1):38–43. doi: 10.1111/j.1399-0004.1988.tb04262.x. [DOI] [PubMed] [Google Scholar]
  3. 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]
  4. Børresen A. L., Hellerud C., Møller P., Søvik O., Berg K. Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome. Clin Genet. 1987 Oct;32(4):254–259. doi: 10.1111/j.1399-0004.1987.tb03309.x. [DOI] [PubMed] [Google Scholar]
  5. Conzelmann E., Nehrkorn H., Kytzia H. J., Sandhoff K., Macek M., Lehovský M., Elleder M., Jirásek A., Kobilková J. Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant). Pediatr Res. 1985 Nov;19(11):1220–1224. doi: 10.1203/00006450-198511000-00022. [DOI] [PubMed] [Google Scholar]
  6. Daffos F., Capella-Pavlovsky M., Forestier F. Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Report of 66 cases. Prenat Diagn. 1983 Oct;3(4):271–277. doi: 10.1002/pd.1970030402. [DOI] [PubMed] [Google Scholar]
  7. Daiger S. P., Lidsky A. S., Chakraborty R., Koch R., Güttler F., Woo S. L. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria. Lancet. 1986 Feb 1;1(8475):229–232. doi: 10.1016/s0140-6736(86)90771-3. [DOI] [PubMed] [Google Scholar]
  8. Danpure C. J., Jennings P. R., Penketh R. J., Wise P. J., Cooper P. J., Rodeck C. H. Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1. Prenat Diagn. 1989 Apr;9(4):271–281. doi: 10.1002/pd.1970090406. [DOI] [PubMed] [Google Scholar]
  9. Dooley T., Fairbanks L. D., Simmonds H. A., Rodeck C. H., Nicolaides K. H., Soothill P. W., Stewart P., Morgan G., Levinsky R. J. First trimester diagnosis of adenosine deaminase deficiency. Prenat Diagn. 1987 Oct;7(8):561–565. doi: 10.1002/pd.1970070806. [DOI] [PubMed] [Google Scholar]
  10. Edwards R. G., Hollands P. New advances in human embryology: implications of the preimplantation diagnosis of genetic disease. Hum Reprod. 1988 May;3(4):549–556. doi: 10.1093/oxfordjournals.humrep.a136742. [DOI] [PubMed] [Google Scholar]
  11. Fox J., Hack A. M., Fenton W. A., Golbus M. S., Winter S., Kalousek F., Rozen R., Brusilow S. W., Rosenberg L. E. Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms. N Engl J Med. 1986 Nov 6;315(19):1205–1208. doi: 10.1056/NEJM198611063151907. [DOI] [PubMed] [Google Scholar]
  12. Golbus M. S., Simpson T. J., Koresawa M., Appelman Z., Alpers C. E. The prenatal determination of glucose-6-phosphatase activity by fetal liver biopsy. Prenat Diagn. 1988 Jul;8(6):401–404. doi: 10.1002/pd.1970080603. [DOI] [PubMed] [Google Scholar]
  13. Goossens M., Dumez Y., Kaplan L., Lupker M., Chabret C., Henrion R., Rosa J. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med. 1983 Oct 6;309(14):831–833. doi: 10.1056/NEJM198310063091405. [DOI] [PubMed] [Google Scholar]
  14. Grebner E. E., Wenger D. A. Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi. Prenat Diagn. 1987 Jul;7(6):419–423. doi: 10.1002/pd.1970070608. [DOI] [PubMed] [Google Scholar]
  15. Grubisic A., Shin Y. S., Meyer W., Endres W., Becker U., Wischerath H. First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies. Clin Genet. 1986 Oct;30(4):298–301. doi: 10.1111/j.1399-0004.1986.tb00610.x. [DOI] [PubMed] [Google Scholar]
  16. Jakobs C., Sweetman L., Wadman S. K., Duran M., Saudubray J. M., Nyhan W. L. Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr. 1984 Jan;141(3):153–157. doi: 10.1007/BF00443213. [DOI] [PubMed] [Google Scholar]
  17. Jinno Y., Niikawa N., Shimada K., Matsuda I. Restriction fragment length polymorphisms in the 5' end region of the human argininosuccinate synthetase gene. J Inherit Metab Dis. 1986;9(3):317–320. doi: 10.1007/BF01799674. [DOI] [PubMed] [Google Scholar]
  18. Kleijer W. J., Thoomes R., Galjaard H., Wendel U., Fowler B. First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria. Lancet. 1984 Dec 8;2(8415):1340–1340. doi: 10.1016/s0140-6736(84)90848-1. [DOI] [PubMed] [Google Scholar]
  19. Kustermann-Kuhn B., Harzer K. Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms. Hum Genet. 1983;65(2):172–175. doi: 10.1007/BF00286657. [DOI] [PubMed] [Google Scholar]
  20. Lake B. D., Young E. P., Nicolaides K. Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. J Inherit Metab Dis. 1989;12(2):152–156. doi: 10.1007/BF01800718. [DOI] [PubMed] [Google Scholar]
  21. Landegren U., Kaiser R., Caskey C. T., Hood L. DNA diagnostics--molecular techniques and automation. Science. 1988 Oct 14;242(4876):229–237. doi: 10.1126/science.3051381. [DOI] [PubMed] [Google Scholar]
  22. Lazarow P. B., Small G. M., Santos M., Shio H., Moser A., Moser H., Esterman A., Black V., Dancis J. Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis. Pediatr Res. 1988 Jul;24(1):63–67. doi: 10.1203/00006450-198807000-00016. [DOI] [PubMed] [Google Scholar]
  23. Maire I., Mathieu M. Possible prenatal diagnosis of type III glycogenosis. J Inherit Metab Dis. 1986;9(1):89–91. doi: 10.1007/BF01813908. [DOI] [PubMed] [Google Scholar]
  24. 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]
  25. 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]
  26. Myerowitz R., Costigan F. C. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem. 1988 Dec 15;263(35):18587–18589. [PubMed] [Google Scholar]
  27. Nicolaides K. H., Soothill P. W., Rodeck C. H., Warren R. C., Gosden C. M. Why confine chorionic villus (placental) biopsy to the first trimester? Lancet. 1986 Mar 8;1(8480):543–544. doi: 10.1016/s0140-6736(86)90894-9. [DOI] [PubMed] [Google Scholar]
  28. Niederwieser A., Curtius H. C. Tetrahydrobiopterin biosynthetic pathway and deficiency. Enzyme. 1987;38(1-4):302–311. doi: 10.1159/000469220. [DOI] [PubMed] [Google Scholar]
  29. Nussbaum R. L., Boggs B. A., Beaudet A. L., Doyle S., Potter J. L., O'Brien W. E. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet. 1986 Feb;38(2):149–158. [PMC free article] [PubMed] [Google Scholar]
  30. O'Brien J. S., Okada S., Fillerup D. L., Veath M. L., Adornato B., Brenner P. H., Leroy J. G. Tay-Sachs disease: prenatal diagnosis. Science. 1971 Apr 2;172(3978):61–64. doi: 10.1126/science.172.3978.61. [DOI] [PubMed] [Google Scholar]
  31. Patrick A. D. Inherited metabolic disorders. Br Med Bull. 1983 Oct;39(4):378–385. doi: 10.1093/oxfordjournals.bmb.a071851. [DOI] [PubMed] [Google Scholar]
  32. Penketh R. J., Delhanty J. D., van den Berghe J. A., Finklestone E. M., Handyside A. H., Malcolm S., Winston R. M. Rapid sexing of human embryos by non-radioactive in situ hybridization: potential for preimplantation diagnosis of X-linked disorders. Prenat Diagn. 1989 Jul;9(7):489–499. doi: 10.1002/pd.1970090706. [DOI] [PubMed] [Google Scholar]
  33. Piceni Sereni L., Bachmann C., Pfister U., Buscaglia M., Nicolini U. Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy. Prenat Diagn. 1988 May;8(4):307–309. doi: 10.1002/pd.1970080411. [DOI] [PubMed] [Google Scholar]
  34. Poenaru L. First trimester prenatal diagnosis of metabolic diseases: a survey in countries from the European community. Prenat Diagn. 1987 Jun;7(5):333–341. doi: 10.1002/pd.1970070507. [DOI] [PubMed] [Google Scholar]
  35. Rodeck C. H., Morsman J. M., Nicolaides K. H., McKenzie C., Gosden C. M., Gosden J. R. A single-operator technique for first-trimester chorion biopsy. Lancet. 1983 Dec 10;2(8363):1340–1341. doi: 10.1016/s0140-6736(83)91095-4. [DOI] [PubMed] [Google Scholar]
  36. Rodeck C. H., Patrick A. D., Pembrey M. E., Tzannatos C., Whitfield A. E. Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency. Lancet. 1982 Aug 7;2(8293):297–300. doi: 10.1016/s0140-6736(82)90272-0. [DOI] [PubMed] [Google Scholar]
  37. Roels F., Verdonck V., Pauwels M., De Catte L., Lissens W., Liebaers I., Elleder M. Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi. Prenat Diagn. 1987 Sep;7(7):525–530. doi: 10.1002/pd.1970070709. [DOI] [PubMed] [Google Scholar]
  38. Saiki R. K., Scharf S., Faloona F., Mullis K. B., Horn G. T., Erlich H. A., Arnheim N. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985 Dec 20;230(4732):1350–1354. doi: 10.1126/science.2999980. [DOI] [PubMed] [Google Scholar]
  39. Sanguinetti N., Marsh J., Jackson M., Fensom A. H., Warren R. C., Rodeck C. H. The arylsulphatases of chorionic villi: potential problems in the first-trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease. Clin Genet. 1986 Oct;30(4):302–308. doi: 10.1111/j.1399-0004.1986.tb00611.x. [DOI] [PubMed] [Google Scholar]
  40. 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]
  41. Simmonds H. A., Fairbanks L. D., Webster D. R., Rodeck C. H., Linch D. C., Levinsky R. J. Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood. Biosci Rep. 1983 Jan;3(1):31–38. doi: 10.1007/BF01121568. [DOI] [PubMed] [Google Scholar]
  42. Sweetman L. Prenatal diagnosis of the organic acidurias. J Inherit Metab Dis. 1984;7 (Suppl 1):18–22. doi: 10.1007/BF03047368. [DOI] [PubMed] [Google Scholar]
  43. Tada K., Aikawa J., Igarashi Y., Hayasaka K., Narisawa K., Owada M., Kitagawa T. A survey on prenatal diagnosis of inherited metabolic diseases in Japan. J Inherit Metab Dis. 1989;12 (Suppl 2):260–262. doi: 10.1007/BF03335392. [DOI] [PubMed] [Google Scholar]
  44. Willems P. J., Darby J. K., DiCioccio R. A., Nakashima P., Eng C., Kretz K. A., Cavalli-Sforza L. L., Shooter E. M., O'Brien J. S. Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis. Am J Hum Genet. 1988 Nov;43(5):756–763. [PMC free article] [PubMed] [Google Scholar]
  45. van Diggelen O. P., von Koskull H., Ammälä P., Vredeveldt G. T., Janse H. C., Kleijer W. J. First trimester diagnosis of Wolman's disease. Prenat Diagn. 1988 Nov;8(9):661–663. doi: 10.1002/pd.1970080905. [DOI] [PubMed] [Google Scholar]

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