BACKGROUND To compare the concordance between trophectoderm (TE) analysis and whole blastocyst analysis of embryos from chromosomal structural rearrangement (SR) carriers. METHOD Sixty-three abnormal blastocysts identified by preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) were included. The whole blastocysts were processed through multiple displacement amplification cycle and sequenced for 24-chromosome aneuploidy screening by next-generation sequencing (NGS). The sequencing results were compared with those of TE biopsy from the same blastocysts and the primary chromosomal rearrangement of the couples. RESULTS Analysis of the 63 blastocysts showed 68% (43/63) complete concordance between TE sequencing analysis and whole blastocyst results. Approximately one third (20/63, 32%) of the sequencing results showed some level of discordance between the two samples. Of these, 14% (9/63) of the embryos were identified as euploid after whole blastocyst sequencing. Among them, seven blastocysts were classified as chromosome mosaicism (five whole chromosomes, two segmental) after TE analysis, while two displayed non-SR related segmental changes in the TE biopsy. Of the original analyses, 70% (44/63) of findings were associated with the primary parental chromosomal rearrangement, while 30% (19/63) had no association. CONCLUSIONS TE biopsy with NGS for PGT-SR is an efficient strategy to identify embryos suitable for transfer. While there was a high concordance between TE and whole blastocyst chromosome results, some embryos classified as mosaic in the original analysis and therefore unsuitable for transfer were reclassified as chromosomally balanced. To maximize the number of embryos available for PGT-SR patients, we suggest that embryos with mosaic non-SR chromosomal rearrangement should be stored and considered for transfer after appropriate counseling.

中文翻译：

---

滋养层活检后对整个胚泡的重新分析表明染色体非整倍性。

背景技术为了比较滋养外胚层（TE）分析与来自染色体结构重排（SR）载体的胚胎的整个胚泡分析之间的一致性。方法包括通过植入前基因测试鉴定的63个异常囊胚，以进行染色体结构重排（PGT-SR）。整个胚泡通过多个置换扩增循环进行处理，并通过下一代测序（NGS）进行测序，用于24染色体非整倍性筛选。将测序结果与来自相同胚泡的TE活检结果和夫妇的主要染色体重排进行了比较。结果对63个胚泡的分析表明，TE测序分析与整个胚泡结果之间有68％（43/63）完全一致。大约三分之一（20/63，32％的测序结果表明两个样品之间存在一定程度的不一致。在整个胚泡测序之后，其中14％（9/63）个胚胎被鉴定为整倍体。其中，经TE分析后，有7个胚泡被分类为染色体镶嵌症（5个完整染色体，两个分段），而在TE活检中，两个囊胚显示出与SR相关的分段变化。在最初的分析中，有70％（44/63）的发现与原代父母的染色体重排有关，而30％（19/63）则没有相关性。结论NGS的TE活检用于PGT-SR是鉴定适合移植的胚胎的有效策略。尽管TE与整个胚泡染色体结果之间存在高度一致性，在原始分析中，一些分类为镶嵌的胚胎因此不适合转移，被重新分类为染色体平衡的。为了使可供PGT-SR患者使用的胚胎数量最大化，我们建议应保存具有马赛克非SR染色体重排的胚胎，并在适当咨询后考虑转移。