Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter
  • Published:

Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification

Abstract

OVER 200 recessive X chromosome-linked diseases, typically affecting only hemizygous males, have been identified. In many of these, prenatal diagnosis is possible by chorion villus sampling (CVS) or amniocentesis, followed by cytogenetic, biochemical or molecular analysis of the cells recovered from the conceptus. In others, the only alternative is to determine the sex of the fetus. If the fetus is affected by the defect or is male, abortion can be offered. Diagnosis of genetic defects in preimplantation embryos would allow those unaffected to be identified and transferred to the uterus1. Here we report the first established pregnancies using this procedure, in two couples known to be at risk of transmitting adrenoleukodystrophy and X-linked mental retardation. Two female embryos were transferred after in vitro fertilization (IVF), biopsy of a single cell at the six- to eight-cell stage, and sexing by DNA amplification of a Y chromosome-specific repeat sequence. Both women are confirmed as carrying normal female twins.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Penketh, R. & McLaren, A. in Clinical Obstetrics and Gynaecology Vol. 1 (ed. Rodeck, C.) 747–764 (Bailliere Tindall, London, 1988).

    Google Scholar 

  2. Rutherford, A. J. et al. Br. med. J. 296, 1765 (1988).

    Article  CAS  Google Scholar 

  3. Hardy, K., Martin, K. L., Leese, H. J., Winston, R. M. L. & Handyside, A. H. Hum. Reprod. (in the press).

  4. Trounson, A. & Mohr, L. Nature 305, 707–709 (1983).

    Article  ADS  CAS  Google Scholar 

  5. Kogan, S. C., Doherty, M. & Gitschier, J. N. Engl. J. Med. 317, 985–990 (1987).

    Article  CAS  Google Scholar 

  6. Handyside, A. H. et al. Lancet i, 347–349 (1989).

    Article  Google Scholar 

  7. Coutelle, C. et al. Br. med. J. 299, 22–24 (1989).

    Article  CAS  Google Scholar 

  8. Cooke, H. J. Nature 262, 182–186 (1976).

    Article  ADS  CAS  Google Scholar 

  9. Bobrow, M., Pearson, P. L., Pike, M. C. & El-Alfi, O. S. Cytogenetics 10, 190–198 (1971).

    Article  CAS  Google Scholar 

  10. Cooke, H. J. & Noel, B. Hum. Genet. 67, 222–224 (1979).

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Handyside, A., Kontogianni, E., Hardy, K. et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344, 768–770 (1990). https://doi.org/10.1038/344768a0

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/344768a0

This article is cited by

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing