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Concordance of PGT for aneuploidies between blastocyst biopsies and spent blastocyst culture medium

Published:October 10, 2022DOI:https://doi.org/10.1016/j.rbmo.2022.10.001

      Abstract

      Research question

      Non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) avoids the possible detrimental impact of invasive PGT-A on embryo development and clinical outcomes. Does cell-free DNA (cfDNA) from spent blastocyst culture medium (BCM) reflect embryonic chromosome status better than trophectoderm (TE) biopsy?

      Design

      In this study, 35 donated embryos were used for research and the BCM, TE biopsy, inner cell mass (ICM) and residual blastocyst (RB) were individually picked up from these embryos. Whole genome amplification (WGA) was performed and amplified DNA was subject to next-generation sequencing. Chromosome status concordance was compared among the groups of samples.

      Results

      The WGA success rates were 97.0% (TE biopsy), 100% (ICM), 97.0% (RB) and 88.6% (BCM). Using ICM as the gold standard, the chromosomal ploidy concordance rates for BCM, TE biopsy and RB were 58.33% (14/24), 68.75% (22/32) and 78.57% (22/28); the diagnostic concordance rates were 83.33% (20/24), 87.50% (28/32) and 92.86% (26/28); and the sex concordance rates were 92.31% (24/26), 100% (32/32) and 100% (28/28), respectively. Considering RB the gold standard, the chromosome ploidy concordance rates for BCM and TE biopsy were 61.90% (13/21) and 81.48% (22/27); the diagnostic concordance rates were 71.43% (15/21) and 88.89% (24/27); and the sex concordance rates were 91.30% (21/23) and 100% (27/27), respectively.

      Conclusions

      The results of niPGT-A of cfDNA of spent BCM are comparable to those of invasive PGT-A of TE biopsies. Modifications of embryo culture conditions and testing methods will help reduce maternal DNA contamination and improve the reliability of niPGT-A.

      Keywords

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      Biography

      Professor Chang Long Xu, PhD, is Director of the IVF-LAB of the Reproductive Medical Center of Nanning Second People's Hospital. He did a postdoctoral fellowship at McGill University on assisted reproductive technology and has expertise in the fields of semen analysis, oocyte and embryo vitrification, intracytoplasmic sperm injection, embryo biopsy, etc.
      Key message
      Non-invasive PGT-A of spent blastocyst culture medium enables precise, reliable assessment of embryo chromosome status. However, its performance may not be superior to invasive PGT of trophectoderm biopsy under current circumstances.