通讯作者: 陆文昊, luwh@enzemed.com

DOI：10.12201/bmr.202507.00036

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

• 摘要：目的 通过NGS的方法对囊胚腔液cfDNA进行全染色体筛查,探索囊胚腔液cfDNA用于植入前胚胎非整倍体筛查的可行性。方法 收集辅助生殖治疗中废弃囊胚38个,共获得囊胚腔液cfDNA样本38个,滋养层细胞样本32个,然后采用DOP-PCR的方法对囊胚腔液cfDNA及滋养层细胞进行全基因组扩增及扩增产物的NGS检测,以滋养层细胞为参照比较囊胚腔液cfDNA的扩增成功率,检测结果一致性、特异性、灵敏度、阳性似然比及阴性似然比。结果 囊胚腔液cfDNA扩增成功率为78.95%,滋养层细胞扩增成功率为90.61%,两者相比差异无统计学意义(p>0.05),两者扩增一致性为57.1%；囊胚腔液cfDNA扩增灵敏度为100%,特异度为66.7%,阳性似然比为3,阴性似然比为0。结论 囊胚腔液cfDNA筛查可作为排除胚胎染色体非整倍性的一种筛查方法,进行移植前胚胎的选择,以期改善高龄、反复流产及植入失败患者的妊娠结局。

  关键词： 囊胚腔液; cfDNA; 胚胎非整倍体; 筛查

   

  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

  提交时间：2025-07-11

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• 序号	提交日期	编号	操作
  1	2025-06-09	10.12201/bmr.202507.00036V1	下载

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