Effectiveness of non-invasive chromosomal screening for normal karyotype and chromosomal rearrangements

Frontiers in Genetics

Genetics

Ya-xin Yao¹  Jing Wang¹  Qing-yuan Sun²  Jie Qiao³  Bo-lan Sun⁴  Yong Wang⁴  Ze-Xuan Wu⁴  Wei-Ping Qian⁴  Zi-Yun Yi⁴  Liang Zhou⁴  Chun-hui Zhang⁴ 

[1] Department of Clinical Research, Yikon Genomics Company, Ltd., Suzhou, China;Fertility Preservation Lab, Reproductive Medicine Center, Guangdong Second Provincial General Hospital, Guangzhou, China;Reproductive Medical Center, Peking University Third Hospital, Beijing, China;The Reproductive Medicine Center, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China;

关键词: non-invasive chromosomal screening;    assisted reproductive technology;    chromosomal ploidy;    next-generation sequencing;    blastocyst culture medium;    clinical outcomes;   

DOI  :  10.3389/fgene.2023.1036467

 received in 2022-09-04, accepted in 2023-02-17,  发布年份 2023

来源: Frontiers

【 摘 要 】

Purpose: To study the accuracy of non-invasive chromosomal screening (NICS) results, in normal chromosomes and chromosomal rearrangement groups and to investigate whether using trophoblast cell biopsy along with NICS, to choose embryos for transfer can improve the clinical outcomes of assisted pregnancy.Methods: We retrospectively analyzed 101 couples who underwent preimplantation genetic testing at our center from January 2019 to June 2021 and collected 492 blastocysts for trophocyte (TE) biopsy. D3-5 blastocyst culture fluid and blastocyst cavity fluid were collected for the NICS. Amongst them, 278 blastocysts (58 couples) and 214 blastocysts (43 couples) were included in the normal chromosomes and chromosomal rearrangement groups, respectively. Couples undergoing embryo transfer were divided into group A, in which both the NICS and TE biopsy results were euploid (52 embryos), and group B, in which the TE biopsy results were euploid and the NICS results were aneuploid (33 embryos).Results: In the normal karyotype group, concordance for embryo ploidy was 78.1%, sensitivity was 94.9%, specificity was 51.4%, the positive predictive value (PPV) was 75.7%, and the negative predictive value (NPV) was 86.4%. In the chromosomal rearrangement group, concordance for embryo ploidy was 73.1%, sensitivity was 93.3%, specificity was 53.3%, the PPV was 66.3%, and the NPV was 89%. In euploid TE/euploid NICS group, 52 embryos were transferred; the clinical pregnancy rate was 71.2%, miscarriage rate was 5.4%, and ongoing pregnancy rate was 67.3%. In euploid TE/aneuploid NICS group, 33 embryos were transferred; the clinic pregnancy rate was 54.5%, miscarriage rate was 5.6%, and ongoingpregnancy rate was 51.5%. The clinical pregnancy and ongoing pregnancy rates were higher in the TE and NICS euploid group.Conclusion: NICS was similarly effective in assessing both normal and abnormal populations. Identification of euploidy and aneuploidy alone may lead to the wastage of embryos due to high false positives. More suitable reporting methods for NICS and countermeasures for a high number of false positives in NICS are needed. In summary, our results suggest that combining biopsy and NICS results could improve the outcomes of assisted pregnancy.

【 授权许可】

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Copyright © 2023 Sun, Wang, Sixi-Wen, Zhou, Zhang, Wu, Qiao, Sun, Yao, Wang, Yi and Qian.