通过下一代测序（NGS）对行胚胎植入前遗传学检测-结构重排（PGT-SR）的夫妇，其胚胎、患者和易位特征对胚胎倍性状态的影响。
The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS).
机构信息
Bahceci Health Group, Hakki Yeten cad. No: 11 Terrace Fulya, Fulya, Istanbul, Turkey.
IGENOMIX, Calle Narcís Monturiol Estarriol no. 11 Parcela B, Edificio Europark, Parque Tecnológico de Paterna, 46980, Paterna, Valencia, Spain.
出版信息
J Assist Reprod Genet. 2021 Feb;38(2):387-396. doi: 10.1007/s10815-020-02054-4. Epub 2021 Jan 4.
PURPOSE
To evaluate the factors that affect the incidence of euploid balanced embryos and interchromosomal effect (ICE) in carriers of different structural rearrangements.
METHODS
This retrospective study includes 95 couples with reciprocal translocations (RecT) and 36 couples with Robertsonian translocations (RobT) undergoing Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) between March 2016 and July 2019. Next-generation sequencing (NGS) was the technique used coupled with trophectoderm (TE) biopsy. Only cases with females under 38 years were included. A total of 532 blastocysts were evaluated.
RESULTS
The euploidy rate was similar in RobT when compared with RecT carriers [57/156 (36.5%) vs. 112/376 (29.8%), p = 0.127]. The pure ICE rate was significantly higher in RobT carriers [48/156 (30.8%) vs. 53/376 (14.1%), p < 0.001] than it was in RecT carriers. Female age was the independent factor for the probability of obtaining a euploid embryo in RecT and RobT carriers, and increasing female age decreases the probability of obtaining a euploid embryo. In RecT carriers, no significant differences were observed in euploidy rates, pure ICE, or combined ICE according to the length of the translocated fragment and the chromosome group. However, total ICE was significantly lower when there was a breakpoint in the short chromosome arm together with a breakpoint in the long arm [(44/158 (27.8%) for pq or qp, 51/155 (32.9%) for pp and 30/63 (47.6%) for qq; p = 0.02].
CONCLUSION
The incidence of euploid/balanced blastocysts was similar in both types of translocations. However, there was a significant increase in pure ICE in RobT compared to RecT carriers. In RecT carriers, the presence of the breakpoints in the long arm of the chromosomes involved in the rearrangement resulted in a higher total ICE.
目的
评估不同结构重排携带者中影响整倍体平衡胚胎和染色体间效应（ICE）发生率的因素。
方法
本回顾性研究纳入了 2016 年 3 月至 2019 年 7 月期间接受结构重排植入前遗传学检测（PGT-SR）的 95 对相互易位（RecT）携带者和 36 对罗伯逊易位（RobT）携带者的 95 对夫妇。使用下一代测序（NGS）联合滋养外胚层（TE）活检。仅纳入女性年龄<38 岁的病例。共评估了 532 个囊胚。
结果
RobT 携带者的整倍体率与 RecT 携带者相似[57/156（36.5%）与 112/376（29.8%），p=0.127]。RobT 携带者的纯 ICE 率明显高于 RecT 携带者[48/156（30.8%）与 53/376（14.1%），p<0.001]。女性年龄是 RecT 和 RobT 携带者获得整倍体胚胎概率的独立因素，随着女性年龄的增加，获得整倍体胚胎的概率降低。在 RecT 携带者中，根据易位片段的长度和染色体组，整倍体率、纯 ICE 或总 ICE 无显著差异。然而，当短臂和长臂均有断裂点时，总 ICE 显著降低[44/158（27.8%）为 pq 或 qp，51/155（32.9%）为 pp，30/63（47.6%）为 qq；p=0.02]。
结论
两种易位类型的整倍体/平衡囊胚发生率相似。然而，RobT 携带者的纯 ICE 发生率明显高于 RecT 携带者。在 RecT 携带者中，涉及重排的染色体长臂断裂点的存在导致总 ICE 升高。
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