Non-invasive preimplantation genetic testing: a literature review

Larissa Nogueira Sousa, Paula Bruno Monteiro, Larissa Nogueira Sousa, Paula Bruno Monteiro

Abstract

Non-invasive preimplantation genetic testing emerged from the discovery of embryonic DNA in spent embryo culture medium. Considering that such methodology would be an important advance in assisted reproduction, this study aimed to evaluate the current scientific evidence, based on the reliability of non-invasive chromosome screening, through a literature review. We analyzed 14 original research papers in PubMed and SciELO, in English and Portuguese, published between 2016 and 2021 related to the topic. The agreement rate for ploidy compared to the traditional method ranged from 3.5% - 93.8% raising the discussion about the possible causes of this large variation, which may be due to the day of collection, spent culture media contamination, amplification methodology or the cytogenetic method used by each author. We concluded that the non-invasive test has many advantages over the traditional method, but that clinical replacement is not yet possible, and further studies are needed in order to have an accurate clinical test with the non-invasive methodology.

Keywords: aneuploidy; assisted reproduction; biopsy; genetic testing.

Figures

Figure 1
Figure 1
Flowchart of the methodology used in this study.

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Source: PubMed

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