Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Nov 17;14(11):2095.
doi: 10.3390/genes14112095.

Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature

Roberta Giuliano  1 , Anna Maione  2 , Angela Vallefuoco  3 , Ugo Sorrentino  4 , Daniela Zuccarello  4
Affiliations
Review

Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature

Roberta Giuliano et al. Genes (Basel). .

Abstract

Preimplantation genetic testing (PGT) has emerged as a revolutionary technique in the field of reproductive medicine, allowing for the selection and transfer of healthy embryos, thus reducing the risk of transmitting genetic diseases. However, despite remarkable advancements, the implementation of PGT faces a series of limitations and challenges that require careful consideration. This review aims to foster a comprehensive reflection on the constraints of preimplantation genetic diagnosis, encouraging a broader discussion about its utility and implications. The objective is to inform and guide medical professionals, patients, and society overall in the conscious and responsible adoption of this innovative technology, taking into account its potential benefits and the ethical and practical challenges that it presents.

Keywords: biopsy; limits; pgt-a; pgt-m; pgt-sr; preimplantation genetic testing.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
After an assisted fertilization cycle, a biopsy is performed, and the sample of extracted cells is then subjected to genetic analysis to determine whether the embryo is suitable for transfer or not.
Figure 2
Figure 2
Innovative approaches of PGT.
See this image and copyright information in PMC

References

    1. Delhanty J.D. Is the polar body approach best for pre-implantation genetic screening? Placenta. 2011;32((Suppl. S3)):S268–S270. doi: 10.1016/j.placenta.2011.06.028. - DOI - PubMed
    1. Scott K.L., Hong K.H., Scott R.T., Jr. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil. Steril. 2013;100:608–614. doi: 10.1016/j.fertnstert.2013.07.004. - DOI - PubMed
    1. De Vos A., Staessen C., De Rycke M., Verpoest W., Haentjens P., Devroey P., Liebaers I., Van de Velde H. Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: A prospective cohort of single embryo transfers. Hum. Reprod. 2009;24:2988–2996. doi: 10.1093/humrep/dep251. - DOI - PubMed
    1. Wacholder S., Chanock S., Garcia-Closas M., El Ghormli L., Rothman N. Assessing the probability that a positive report is false: An approach for molecular epidemiology studies. J. Natl. Cancer Ins. 2004;96:434–442. doi: 10.1093/jnci/djh075. - DOI - PMC - PubMed
    1. ESHRE PGT Consortium Steering Committee. Carvalho F., Coonen E., Goossens V., Kokkali G., Rubio C., Meijer-Hoogeveen M., Moutou C., Vermeulen N., De Rycke M. ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Hum. Reprod. Open. 2020;2020:hoaa021. doi: 10.1093/hropen/hoaa021. - DOI - PMC - PubMed

Publication types