Abstract：Objective To explore the efficiency of cell free DNA in culture media to detect chromosome 13, 15, 16, 18, 21 and 22 aneuploidy of the blastocysts. Methods A total of 239 blastocysts were included in this study, and all were derived from PGT-A cycles. SNP array was used to detect the aneuploidy of trophoblast cells of blastocyst biopsy. NICS was used to detect the aneuploidy of cell free DNA in culture media. We compared the results of the two methods using blind. We also calculated the sensitivity, specificity, diagnostic efficiency, positive predictive value and negative predictive value of NICS in the detection of chromosomes 13, 15, 16, 18, 21 and 22 aneuploidy. Results Among 239 blastocysts included in this study, 209 blastocysts had NICS results, and the detection rate of NICS was 87.5% (209/239). The specificity and efficiency of NICS in the detection of chromosomes 13, 15, 16, 18, 21 and 22 were higher than 90%, and the negative predictive value of NICS was over 97%. However, the sensitivity fluctuated greatly (33%~100%), and the positive predictive value was lower than 50%. Conclusion NICS can detect blastocyst aneuploidy. When the chromosomes 13, 15, 16, 18, 21, 22 are euploid, the probability is high. The embryo is not necessarily aneuploid when the chromosomes are aneuploid.
黄锦, 加加林, 姚雅馨, 陆思嘉, 党玉姣, 乔杰, 刘平. 囊胚培养液中游离DNA的重要染色体整倍性研究[J]. 中国生育健康杂志, 2022, 33(1): 23-26.
HUANG Jin, JIA Jialin, YAO Yaxin, LU Sijia, DANG Yujiao, QIAO Jie, LIU Ping. Study on the important chromosomeeuploidy of cell free DNA in blastocyst culture medium. Chinese Journal of Reproductive Health, 2022, 33(1): 23-26.
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