Hunan Normal University School of Medicine, Changsha, Hunan, China; National Engineering and Research Center of Human Stem Cells, Changsha, China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China; Key Laboratory of Reproductive and Stem Cell Engineering, Ministry of Health, Changsha, China; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, People's Republic of China.
Fertil Steril. 2019 Aug;112(2):336-342.e3. doi: 10.1016/j.fertnstert.2019.03.041. Epub 2019 May 15.
To determine factors affecting unbalanced chromosomal rearrangement originating from parental inversion and interchromosomal effect occurrence in blastocysts from inversion carriers.
Retrospective study.
University-affiliated center.
PATIENT(S): Couples with one partner carrying inversion underwent preimplantation genetic testing for chromosomal structural rearrangement cycles.
INTERVENTION(S): Not applicable.
MAIN OUTCOME MEASURE(S): Unbalanced rearrangement embryo rate, normal embryo rate, interchromosomal effect.
RESULT(S): Preimplantation genetic testing was performed for 576 blastocysts from 57 paracentric (PAI) and 94 pericentric (PEI) inversion carriers. The percentage of normal/balanced blastocysts was significantly higher in PAI than PEI carriers (70.4% vs. 57.5%). Logistic regression indicated the inverted segment size ratio was a statistically significant risk factor for abnormality from parental inversion in both PEI and PAI. The optimal cutoff values to predict unbalanced rearrangement risk were 35.7% and 57%. In PAI, rates of abnormality from parental inversion were 0% and 12.1% in the <35.7% and ≥35.7% groups, respectively, with no gender difference. For PEI, the rates of abnormality from parental inversion were 7.9% and 33.1% in the <57% and ≥57% groups, respectively. In the ≥57% group, the rate of unbalanced rearrangement was significantly higher from paternal than maternal inversion (43.3% vs. 23.6%). In inversion carriers, 21,208 chromosomes were examined, and 187 (0.88%) malsegregations were identified from structurally normal chromosomes. In controls, 56,488 chromosomes were assessed, and 497 (0.88%) aneuploidies were identified, indicating no significant difference.
CONCLUSION(S): The risk of unbalanced rearrangement is affected by the ratio of inverted segment size in both PAI and PEI carriers and is associated with gender.
确定影响倒位携带者胚胎中不平衡染色体重排的因素以及染色体间效应的发生。
回顾性研究。
大学附属中心。
一方携带倒位的夫妇进行了染色体结构重排的胚胎植入前遗传学检测。
无。
不平衡重排胚胎率、正常胚胎率、染色体间效应。
对 57 个臂间倒位（PAI）和 94 个臂内倒位（PEI）携带者的 576 个囊胚进行了胚胎植入前遗传学检测。PAI 携带者的正常/平衡囊胚比例明显高于 PEI 携带者（70.4% vs. 57.5%）。逻辑回归表明，倒置片段大小比是 PEI 和 PAI 中父母倒位异常的统计学显著危险因素。预测不平衡重排风险的最佳截断值分别为 35.7%和 57%。在 PAI 中，倒置片段大小比<35.7%和≥35.7%两组的父母倒位异常率分别为 0%和 12.1%，且无性别差异。对于 PEI，倒置片段大小比<57%和≥57%两组的父母倒位异常率分别为 7.9%和 33.1%。在≥57%组中，父源倒位的不平衡重排率明显高于母源倒位（43.3% vs. 23.6%）。在倒位携带者中，检查了 21208 条染色体，从结构正常的染色体中发现了 187 个（0.88%）易位。在对照组中，评估了 56488 条染色体，发现了 497 个（0.88%）非整倍体，表明无显著差异。
不平衡重排的风险受 PAI 和 PEI 携带者中倒置片段大小比的影响，并与性别有关。
