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The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy
Fertility and Sterility ( IF 6.7 ) Pub Date : 2021-12-31 , DOI: 10.1016/j.fertnstert.2021.10.011
Julia Kim 1 , Xin Tao 2 , Michael Cheng 3 , Ayesha Steward 3 , Vanessa Guo 2 , Yiping Zhan 2 , Richard T Scott 1 , Chaim Jalas 2
Affiliation  

Objective

To determine how often the results of a single trophectoderm (TE) biopsy tested by PGTseq, a targeted next-generation sequencing preimplantation genetic testing for aneuploidy technology, reflect the biology of the rest of the embryo.

Design

Blinded prospective cohort study.

Setting

University-affiliated private practice.

Patient(s)

A total of 300 blastocysts were donated; 113 of these embryos were euploid; 163 embryos possessed at least one whole chromosome aneuploidy; and 24 embryos were negative for whole chromosome aneuploidy but possessed at least one secondary finding on initial TE biopsy.

Intervention(s)

All blastocysts underwent rebiopsy and preimplantation genetic testing for aneuploidy on the PGTseq platform.

Main Outcome Measure(s)

Partial concordance rate per embryo, total concordance rate per embryo, and total concordance rate per chromosomal event.

Result(s)

An initial TE biopsy result of euploidy or whole chromosome aneuploidy was reconfirmed in >99% of rebiopsied samples, affirming that meiotic errors are manifested in almost the entire embryo. In contrast, results of whole chromosome or segmental mosaicism were confirmed in 15%–18% of subsequent rebiopsies, suggesting that mitotic events are only sporadically seen throughout the embryo. Segmental aneuploidy was confirmed in 56.6% of rebiopsied samples, identifying a mixed meiotic and mitotic etiology for such abnormalities.

Conclusion(s)

A euploid or aneuploid result on the PGTseq platform is highly concordant with the rest of the embryo’s ploidy status. The rarer confirmation of whole chromosome mosaic and segmental mosaic results suggest that these mosaics are suitable for embryo transfer. Segmental aneuploidy, with higher concordance rates throughout the embryo, may represent a different biologic etiology compared to mosaic embryos.



中文翻译:

使用 PGTseq 进行初始滋养外胚层活检与胚胎其余部分的一致性率,PGTseq 是一种用于植入前基因检测的靶向下一代测序平台 - 非整倍体

客观的

为了确定由 PGTseq(一种针对非整倍体技术的下一代测序植入前基因检测)检测的单个滋养外胚层 (TE) 活检结果多久反映胚胎其余部分的生物学特性。

设计

盲法前瞻性队列研究。

环境

大学附属的私人诊所。

耐心)

总共捐赠了300个囊胚;这些胚胎中有 113 个是整倍体;163 个胚胎具有至少一个完整的染色体非整倍性;24 个胚胎全染色体非整倍体呈阴性,但在初始 TE 活检中至少有一个二次发现。

干预措施

所有囊胚都在 PGTseq 平台上进行了非整倍体的再活检和植入前基因检测。

主要观察指标)

每个胚胎的部分一致率、每个胚胎的总一致率和每个染色体事件的总一致率。

结果)

在 >99% 的重新活检样本中再次确认了整倍性或整个染色体非整倍性的初始 TE 活检结果,确认减数分裂错误几乎出现在整个胚胎中。相比之下,15%–18% 的后续再活检证实了整个染色体或节段嵌合的结果,这表明有丝分裂事件仅在整个胚胎中偶尔出现。在 56.6% 的重新活检样本中证实了节段性非整倍性,确定了此类异常的混合减数分裂和有丝分裂病因。

结论

PGTseq 平台上的整倍体或非整倍体结果与胚胎的其余倍体状态高度一致。对整个染色体镶嵌和节段镶嵌结果的罕见确认表明这些镶嵌适合胚胎移植。与镶嵌胚胎相比,节段性非整倍性,在整个胚胎中具有更高的一致性率,可能代表不同的生物学病因。

更新日期:2022-02-03
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