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.

The uncertain science of preimplantation and prenatal genetic testing

Tests to identify chromosomal abnormalities in embryos and in early pregnancies are frequently used to make important decisions, including terminations, but many rely on outdated science. Regulation of these genetic tests is urgently needed to ensure transparency and validation.

This is a preview of subscription content

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

All prices are NET prices.

Fig. 1: Schematic of preimplantation genetic testing for aneuploidy (PGT-A) in IVF.

References

  1. Gleicher, N., Patrizio, P. & Brivanlou, A. Trends Mol. Med. 27, 731–742 (2021).

    CAS  Article  Google Scholar 

  2. Mastenbroek, S., de Wert, G. & Adashi, E. Y. N. Engl. J. Med. 385, 2096–2100 (2021).

    Article  Google Scholar 

  3. Chatzimeletiou, K. et al. Zygote 15, 81–90 (2007).

    CAS  Article  Google Scholar 

  4. Chatzimeletiou, K. et al. Hum. Reprod. 20, 672–682 (2005).

    Article  Google Scholar 

  5. Ottolini, C. S. et al. Sci. Rep. 7, 9744 (2017).

    Article  Google Scholar 

  6. Coticchio, G. et al. Hum. Reprod. Update 27, 848–856 (2021).

    Article  Google Scholar 

  7. Kiessling, A. A. et al. J. Assist. Reprod. Genet. 27, 265–276 (2010).

    Article  Google Scholar 

  8. Lee, A. & Kiessling, A. A. J. Assist. Reprod. Genet. 34, 15–21 (2017).

    Article  Google Scholar 

  9. Coorens, T. H. H. et al. Nature 592, 80–85 (2021).

    CAS  Article  Google Scholar 

  10. Costello, J. F. & Fisher, S. J. N. Engl. J. Med. 385, 87–89 (2021).

    Article  Google Scholar 

  11. Park, S. et al. Nature 597, 393–397 (2021).

    CAS  Article  Google Scholar 

  12. Yang, M. et al. Nat. Cell Biol. 23, 314–321 (2021).

    CAS  Article  Google Scholar 

  13. Gamage, T. K. J. B. et al. Biol. Open 7, bio034884 (2018).

    Article  Google Scholar 

  14. Gleicher, N., Deppe, G. & Cohen, C. J. Obstet. Gynecol. 54, 335–342 (1979).

    CAS  PubMed  Google Scholar 

  15. Popovic, M. et al. Hum. Reprod. Update 26, 312–334 (2020).

    Google Scholar 

  16. Starostik, M. R., Sosina, O. A. & McCoy, R. C. Genome Res. 30, 814–825 (2020).

    CAS  Article  Google Scholar 

  17. Lee, J.-M. et al. Mol. Diagn. Ther. 25, 351–359 (2021).

    CAS  Article  Google Scholar 

  18. Gleicher, N., Weghofer, A. & Barad, D. H. Autoimmun. Rev. 10, 361–363 (2011).

    Article  Google Scholar 

  19. Hanson, B. M. et al. Fertil. Steril. 115, 1461–1470 (2021).

    CAS  Article  Google Scholar 

  20. Orvieto, R., Aizer, A. & Gleicher, N. Hum. Reprod. 36, 1186–1190 (2021).

    Article  Google Scholar 

  21. Kliff, S. & Bhatia, A. When they warn of rare disorders, these prenatal tests are usually wrong. The New York Times (January 2022).

  22. Yan, J. et al. N. Engl. J. Med. 385, 2047–2058 (2021).

    CAS  Article  Google Scholar 

  23. Turley, P. et al. N. Engl. J. Med. 385, 78–86 (2021).

    Article  Google Scholar 

  24. Lencz, T. et al. eLife 10, e64716 (2021).

    Article  Google Scholar 

  25. Polygenic Risk Score Task Force of the International Common Disease Alliance. Nat. Med. 27, 1876-1884 (2021).

  26. Forzano, F. et al. Eur. J. Hum. Genet. https://doi.org/10.1038/s41431-021-01000-x (2021).

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Norbert Gleicher.

Ethics declarations

Competing interests

N.G. is listed as co-inventor on several U.S. patents and receives royalties from Fertility Nutraceuticals LLC, New York, NY, for some of these patents, none of which relate to subjects discussed in this article. N.G. is a shareholder in Fertility Nutraceuticals, owns The Center for Human Reproduction (CHR), a fertility center in New York, NY, and received speaker honoraria and research grant support from Ferring Pharmaceuticals (Saint-Prex, Switzerland) and Cook Medical (Bloomington, IN). D.F.A. receives as editor-in-chief of a medical journal a stipend from Springer Nature, and in 2021 received speaker honoraria from EMD Serono (Rockland, MA) and Cook Medical (Bloomington, IN). R.O. received speaker honoraria from Ferring Pharmaceuticals (Saint-Prex, Switzerland) and Merck KGaA. (Darmstadt, Germany). All other authors have no conflicts to report.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Gleicher, N., Albertini, D.F., Patrizio, P. et al. The uncertain science of preimplantation and prenatal genetic testing. Nat Med 28, 442–444 (2022). https://doi.org/10.1038/s41591-022-01712-7

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41591-022-01712-7

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