What is ni-PGT?

Genoseq ni-PGT is a non-invasive genetic screening for blastocysts in IVF. It is a method of genetic testing that uses cell-free DNA (cfDNA) detected in spent culture medium (SCM) as a non-invasive method for chromosomal screening, eliminating the need for embryo biopsy, making it a valuable tool for infertile couples.

Workflow of ni-PGT

Workflow of ni-PGT

What is non-invasive PGT-A and how does it compare to traditional PGT-A

PGT-A is a common method for detecting genetic abnormalities in embryos by biopsy of the trophectoderm. However, this can harm the embryo and may not fully represent its genetic profile. A new non-invasive approach, niPGT-A, uses cell-free DNA from the culture medium where blastocysts grow. It shows high agreement with traditional PGT-A, representing the whole embryo. niPGT-A seamlessly incorporates discarded spent culture medium (SCM) into IVF clinic workflows.

 non-invasive PGT-A

Accuracy of ni PGT-A compared to PGT

Recent studies have found that non-invasive PGT-A (niPGT-A) has a high level of concordance with traditional PGT-A methods, with an accuracy rate of up to 94%. This improvement is partly due to the removal of maternal contamination and the concentration of cDNA in the surrounding culture medium, which is optimal on day 5 of blastocyst growth. Overall, niPGTA has been shown to have higher concordance rates for embryo ploidy than traditional PGT-A methods, which have an accuracy rate of up to 82%.


Huang L, et al. (2019). Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy. - https://doi.org/10.1073/pnas.1907472116

Popovic M, et al. (2019). Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy. - https://doi.org/10.1093/humrep/dez012

Ho J R, et al. (2018). Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos . - https://doi.org/10.1016/j.fertnstert.2018.03.036

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