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. 1979 Jun;16(3):166–175. doi: 10.1136/jmg.16.3.166

Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

P E Polani, E Alberman, B J Alexander, P F Benson, A C Berry, S Blunt, M G Daker, A H Fensom, D M Garrett, V M McGuire, J A Roberts, M J Seller, J D Singer
PMCID: PMC1012687  PMID: 469894

Abstract

The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.

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Selected References

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

  1. Adinolfi A., Adinolfi M., Lessof Alpha-feto-protein during development and in disease. J Med Genet. 1975 Jun;12(2):138–151. doi: 10.1136/jmg.12.2.138. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Alberman E., Berry A. C., Polani P. E. Planning an amniocentesis service for Down syndrome. Lancet. 1979 Jan 6;1(8106):50–50. doi: 10.1016/s0140-6736(79)90497-5. [DOI] [PubMed] [Google Scholar]
  3. Blunt S., Berry A. C., Seller M. J., Williams C. A. Prenatal recognition of 4p- syndrome. J Med Genet. 1977 Jun;14(3):232–233. doi: 10.1136/jmg.14.3.232. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Brock D. J., Sutcliffe R. G. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet. 1972 Jul 29;2(7770):197–199. doi: 10.1016/s0140-6736(72)91634-0. [DOI] [PubMed] [Google Scholar]
  5. Campbell S., Grundy M., Singer J. D. Early antenatal diagnosis of spina bifida in a twin fetus by ultrasonic examination and alpha-fetoprotein estimation. Br Med J. 1976 Sep 18;2(6037):676–676. doi: 10.1136/bmj.2.6037.676. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Fensom A. H., Benson P. F., Babarik A. W., Grant A. R., Jacobs L. Fibroblast phosphodiesterase deficiency in Niemann-Pick disease. Biochem Biophys Res Commun. 1977 Feb 7;74(3):877–883. doi: 10.1016/0006-291x(77)91600-x. [DOI] [PubMed] [Google Scholar]
  7. Fensom A. H., Benson P. F., Baker J. E. A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease. Clin Chim Acta. 1978 Jul 1;87(1):169–174. doi: 10.1016/0009-8981(78)90072-4. [DOI] [PubMed] [Google Scholar]
  8. Fensom A. H., Benson P. F., Blunt S., Brown S. P., Coltart T. M. Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease. J Med Genet. 1976 Apr;13(2):148–149. doi: 10.1136/jmg.13.2.148. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Fensom A. H., Benson P. F., Blunt S. Prenatal diagnosis of galactosaemia. Br Med J. 1974 Nov 16;4(5941):386–387. doi: 10.1136/bmj.4.5941.386. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Ferguson-Smith M. A. Letter: Prospective data on risk of Down syndrome in relation to maternal age. Lancet. 1976 Jul 31;2(7979):252–252. doi: 10.1016/s0140-6736(76)91045-x. [DOI] [PubMed] [Google Scholar]
  11. Galjaard H. European experience with prenatal diagnosis of congenital disease: a survey of 6121 cases. Cytogenet Cell Genet. 1976;16(6):453–467. doi: 10.1159/000130663. [DOI] [PubMed] [Google Scholar]
  12. Holmes L. B. Genetic counseling for the older pregnant woman: new data and questions. N Engl J Med. 1978 Jun 22;298(25):1419–1421. doi: 10.1056/NEJM197806222982511. [DOI] [PubMed] [Google Scholar]
  13. Kohn G., Robinson A. Tetraploidy in cells cultured from amniotic fluid. Lancet. 1970 Oct 10;2(7676):778–779. doi: 10.1016/s0140-6736(70)90262-x. [DOI] [PubMed] [Google Scholar]
  14. Milunsky A. Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med. 1975 Oct 30;293(18):932–933. doi: 10.1056/NEJM197510302931816. [DOI] [PubMed] [Google Scholar]
  15. Niermeijer M. F., Sachs E. S., Jahodova M., Tichelaar-Klepper C., Kleijer W. J., Galjaard H. Prenatal diagnosis of genetic disorders. J Med Genet. 1976 Jun;13(3):182–194. doi: 10.1136/jmg.13.3.182. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Philip J., Bang J., Madsen M. Should the indications for prenatal chromosome analysis be changed? Br Med J. 1977 Oct 29;2(6095):1117–1119. doi: 10.1136/bmj.2.6095.1117. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Polani P. E., Alberman E., Berry A. C., Blunt S., Singer J. D. Chromosome abnormalities and maternal age. Lancet. 1976 Sep 4;1(7984):516–517. doi: 10.1016/s0140-6736(76)90806-0. [DOI] [PubMed] [Google Scholar]
  18. Polani P. E., Polani N. Chromosome anomalies, mosaicism and dermatoglyphic asymmetry. Ann Hum Genet. 1969 May;32(4):391–402. doi: 10.1111/j.1469-1809.1969.tb00091.x. [DOI] [PubMed] [Google Scholar]
  19. Ramsay C. A., Coltart T. M., Blunt S., Pawsey S. A., Giannelli F. Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case. Lancet. 1974 Nov 9;2(7889):1109–1112. doi: 10.1016/s0140-6736(74)90870-8. [DOI] [PubMed] [Google Scholar]
  20. Sachs E. S., Jahoda M. G., Niermeijer M. F., Galjaard H. An unexpected high frequency of trisomic fetuses in 229 pregnancies monitored for advanced maternal age. Hum Genet. 1977 Apr 7;36(1):43–46. doi: 10.1007/BF00390434. [DOI] [PubMed] [Google Scholar]
  21. Seller M. J. Prenatal diagnosis of a neural tube defect: Meckel syndrome. J Med Genet. 1975 Mar;12(1):109–110. doi: 10.1136/jmg.12.1.109. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Seller M. Dark-brown amniotic fluid. Lancet. 1977 Nov 5;2(8045):983–984. doi: 10.1016/s0140-6736(77)90930-8. [DOI] [PubMed] [Google Scholar]
  23. Simpson N. E., Dallaire L., Miller J. R., Siminovich L., Hamerton J. L., Miller J., McKeen C. Prenatal diagnosis of genetic disease in Canada: report of a collaborative study. Can Med Assoc J. 1976 Oct 23;115(8):739–748. [PMC free article] [PubMed] [Google Scholar]
  24. Stirling J. L., Robinson D., Fensom A. H., Benson P. F., Baker J. E. Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes. Lancet. 1978 Jan 21;1(8056):147–147. doi: 10.1016/s0140-6736(78)90441-5. [DOI] [PubMed] [Google Scholar]

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