Skip to main content
SpringerLink
Log in

Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases

  • Short Communications
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

1. A method for freezing uncultured amniotic fluid cells is presented, which allows their use as pregnancy-age matched controls in prenatal diagnosis of metabolic diseases. 2. Amniotic fluid cells were successfully cultured after up to 7 days in transport, which makes prenatal diagnosis available to parents living a long way from specialized centers.

Zusammenfassung

1. Eine Einfriermethode für nichtkultivierte Fruchtwasserzellen wird beschrieben, wodurch man diese wie Kontrollmuster anwenden kann bei pränataler Diagnostik von Stoffwechselkrankheiten. 2. Fruchtwasserzellen wurden erfolgreich kultiviert nach langzeitigem Transport (7 Tage); dieser Befund bringt eine pränatale Diagnostik im Bereich entfernt von spezialisierten Zentren lebender Eltern.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Brady, R. O., Uhlendorf, B. W., Jacobson, C. B.: Fabry's disease: antenatal detection. Science 172, 174–175 (1971)

    CAS  PubMed  Google Scholar 

  • Ceccarini, C., Eagle, H.: pH as a determinant of cellular growth and contact inhibition. Proc. nat. Acad. Sci. (Wash.) 68, 229–233 (1971)

    CAS  Google Scholar 

  • Cox, R. P., Douglas, G., Hutzler, J., Lynfield, J., Dancis, J.: In-utero detection of Pompe's disease. Lancet 1970 I, 893

  • DeMars, R.: Some studies of enzymes in cultivated human cells. Nat. Cancer Inst. Monogr. 13, 181–195 (1964)

    CAS  PubMed  Google Scholar 

  • Epstein, C. J., Schneider, E. L., Conte, F. A., Friedman, S.: Prenatal detection of genetic disorders. Amer. J. hum. Genet. 24, 214–226 (1972)

    CAS  PubMed  Google Scholar 

  • Fratantoni, J. C., Neufeld, E. F., Uhlendorf, B. W., Jacobson, C. B.: Intrauterine diagnosis of the Hurler and Hunter syndromes. New Engl. J. Med. 280, 686–688 (1969)

    CAS  PubMed  Google Scholar 

  • Galjaard, H., Fernandes, J., Jahodova, M., Koster, J. F., Niermeijer, M. F.: Prenatal diagnosis of genetic disease. Bull. Europ. Soc. Hum. Genet. Nov. 79–91 (1972)

  • Lie, S. O., Schofield, B. H., Taylor, H. A., Jr., Doty, S. B.: Structure and function of the lysosomes of human fibroblasts in culture: dependence on medium pH. Pediat. Res. 7, 13–19 (1973)

    CAS  PubMed  Google Scholar 

  • Milunsky, A., Littlefield, J. W., Kanfer, J. N., Kolodny, E. H., Shih, V. E., Atkins, L.: Prenatal genetic diagnosis. New Engl. J. Med. 283, 1370–1381, 1441–1447, 1498–1504 (1970)

    CAS  PubMed  Google Scholar 

  • Milunsky, A., Littlefield, J. W.: The prenatal diagnosis of inborn errors of metabolism. Ann. Rev. Med. 23, 57–76 (1972)

    Article  CAS  PubMed  Google Scholar 

  • Robbins, E., Levine, E. M., Eagle, H.: Morphologic changes accompanying senescence of cultured human diploid cells. J. Exptl. Med. 131, 1211–1222 (1970)

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands

    M. F. Niermeijer, D. Halley, E. Sachs & C. Tichelaar-Klepper

  2. Department of Obstetrics and Gynecology, Magee Women's Hospital, University of Pittsburgh, Pittsburgh, Penn., USA

    K. L. Garver

Authors
  1. M. F. Niermeijer
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. D. Halley
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. E. Sachs
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C. Tichelaar-Klepper
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. K. L. Garver
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Niermeijer, M.F., Halley, D., Sachs, E. et al. Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases. Humangenetik 20, 175–178 (1973). https://doi.org/10.1007/BF00284856

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00284856

Keywords

Search

Navigation