What is it about?

The chromosomal status evaluation using cell free DNA in spent embryo culture media may have been realized. Higher concordance rate was observed for sex determination and may help in the diagnosis of X-linked Mendelian disease. With slight improvement in the concordance rate, noninvasive PGT-A using spent culture media may serve as an optimal evaluating method.

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Why is it important?

In recent years, many studies on preimplantation genetic testing for aneuploidy (PGT-A) have progressed and contributed to the positive outcomes of assisted reproductive technology.However, embryo biopsy leads to certain detrimental effects in embryo quality. Therefore, the non-invasive approach is expected to have great potential.


The concordance rates of sex determination between niPGT-A and whole embryo was more than 80%.This higher rate of concordance is important in the diagnosis of X-linked mendelian diseases such as hemophilia.On the other hand, this higher concordance rate can be ethically controversial in terms of preimplantation sex selection.

Hiroki Sonehara
Chiba Daigaku

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This page is a summary of: Aneuploidy and sex concordance rate between cell‐free DNA analysis from spent culture media of preimplantation embryo and DNA from whole embryo with respect to different morphologica..., Reproductive Medicine and Biology, January 2022, Wiley,
DOI: 10.1002/rmb2.12493.
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