Study on the Use of cfDNA from Blastocoel Fluid for Embryo Aneuploidy Screening

Corresponding author: luwenhao, luwh@enzemed.com

DOI: 10.12201/bmr.202507.00036

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  Abstract: YANG Huanli ,ZHU Yiyang,LU Wenhao CAI Jiaojiao Center of Reproduction Taizhou Hospital,Taizhou,Zhejiang 31700,China
  : Objective To explore the feasibility of using cfDNA from blastocoel fluid for pre-implantation embryo aneuploidy screening through whole chromosome screening using NGS methods. Methods A total of 38 discarded blastocysts were collected during assisted reproductive treatment, yielding 38 cfDNA samples from blastocoel fluid and 32 trophoblast cell samples. DOP-PCR was used for whole genome amplification of cfDNA from blastocoel fluid and trophoblast cells, followed by NGS detection of the amplification products. The amplification success rate, consistency of detection results, specificity, sensitivity, positive likelihood ratio, and negative likelihood ratio of cfDNA from blastocoel fluid were compared to those of trophoblast cells. Results The amplification success rate of cfDNA from blastocoel fluid was 78.95%, while that of trophoblast cells was 90.61%, with no statistically significant difference between the two (p>0.05)and the consistency of amplification between the two was 57.1%. The sensitivity of blastocoel fluid cfDNA amplification is 100%, specificity is 66.7%, positive likelihood ratio is 3, and negative likelihood ratio is 0. Conclusion Screening of cfDNA from blastocoel fluid can serve as a method to exclude chromosomal aneuploidy in embryos, aiding in the selection of embryos for transfer, with the aim of improving pregnancy outcomes in patients of advanced age, those with recurrent miscarriages, and those with implantation failures.

  Key words: Blastocoel fluid; cfDNA; Embryonic aneuploidy; Screening

  Submit time: 11 July 2025

  Copyright: The copyright holder for this preprint is the author/funder, who has granted biomedRxiv a license to display the preprint in perpetuity.
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  1	2025-06-09	10.12201/bmr.202507.00036V1	Download

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