Sun Bo-Lan, Wang Yong, Zhou Liang, Zhang Chun-Hui, Wu Ze-Xuan, Qiao Jie, Sun Qing-Yuan, Yao Ya-Xin, Wang Jing, Yi Zi-Yun, Qian Wei-Ping
The Reproductive Medicine Center, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
Reproductive Medical Center, Peking University Third Hospital, Beijing, China.
Front Genet. 2023 Mar 13;14:1036467. doi: 10.3389/fgene.2023.1036467. eCollection 2023.
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. 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). 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. 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.
为研究无创染色体筛查（NICS）结果在正常染色体组和染色体重排组中的准确性，并探讨采用滋养层细胞活检联合NICS选择胚胎进行移植是否能改善辅助妊娠的临床结局。我们回顾性分析了2019年1月至2021年6月在本中心接受植入前基因检测的101对夫妇，并收集了492个囊胚进行滋养层（TE）活检。收集D3 - 5期囊胚培养液和囊胚腔液用于NICS检测。其中，正常染色体组纳入278个囊胚（58对夫妇），染色体重排组纳入214个囊胚（43对夫妇）。接受胚胎移植的夫妇分为A组，NICS和TE活检结果均为整倍体（52个胚胎），以及B组，TE活检结果为整倍体而NICS结果为非整倍体（33个胚胎）。在正常核型组中，胚胎倍性的一致性为78.1%，敏感性为94.9% , 特异性为51.4%，阳性预测值（PPV）为75.7%，阴性预测值（NPV）为86.4%。在染色体重排组中，胚胎倍性的一致性为73.1%，敏感性为93.3%，特异性为53.3%，PPV为66.3%，NPV为89%。在整倍体TE/整倍体NICS组中，移植了52个胚胎；临床妊娠率为71.2%，流产率为5.4%，持续妊娠率为67.3%。在整倍体TE/非整倍体NICS组中，移植了33个胚胎；临床妊娠率为54.5%，流产率为5.6%，持续妊娠率为51.5%。TE和NICS均为整倍体组的临床妊娠率和持续妊娠率更高。NICS在评估正常和异常人群时同样有效。仅识别整倍体和非整倍体可能因高假阳性率导致胚胎浪费。需要更合适的NICS报告方法及针对NICS中大量假阳性的应对措施。总之，我们的结果表明，活检与NICS结果相结合可改善辅助妊娠结局。
