Bazrgar Masood, Kariminejad Roxana, Eftekhari-Yazdi Poopak, Gourabi Hamid
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
J Reprod Infertil. 2024 Jan-Mar;25(1):56-59. doi: 10.18502/jri.v25i1.15200.
During preimplantation development, single aneuploidies are more commonly tolerated than complex aneuploidies. Some studies have reported that blastocysts with aneuploid karyotypes on Day-3 embryo biopsy can exhibit a normal karyotype on Day-5 rebiopsy, suggesting that single aneuploidies may have a higher likelihood of presenting a normal karyotype on Day-5. The purpose of the current study was to assess the benefit of reanalyzing the karyotypes of Day-3 single aneuploid embryos on Day-5.
Day-3 and Day-5 biopsies of preimplantation embryos were subjected to array comparative genomic hybridization (aCGH). A proof of concept case series study was conducted involving 13 Day-5 embryos from 4 couples across 3 ART centers, collected between October 2019 and June 2020. Each center provided one normal embryo and 3-4 embryos with single aneuploidy based on Day-3 aCGH results. The karyotype of each Day-5 embryo was compared with its corresponding Day-3 karyotype.
Among the 10 embryos with single aneuploidy on Day-3, 3 (30%) exhibited discordant karyotypes on Day-5, while the remaining 7 single aneuploid embryos and 3 normal embryos maintained the same karyotype from Day-3 to Day-5. None of the Day-3 single aneuploid embryos displayed a normal karyotype on Day-5.
Contrary to previous reports suggesting the potential correction of single aneuploidies in some embryos, the findings of this study did not support such a possibility in the analyzed embryos. Genomic reanalysis of Day-3 single aneuploid embryos on Day-5 does not appear to be a reliable method for identifying euploid embryos suitable for transfer.
在植入前发育过程中,单一非整倍体比复杂非整倍体更易被耐受。一些研究报告称,在第3天胚胎活检时具有非整倍体核型的囊胚在第5天再次活检时可能呈现正常核型,这表明单一非整倍体在第5天呈现正常核型的可能性可能更高。本研究的目的是评估对第3天单一非整倍体胚胎在第5天重新分析核型的益处。
对植入前胚胎的第3天和第5天活检样本进行阵列比较基因组杂交(aCGH)。进行了一项概念验证病例系列研究,涉及2019年10月至2020年6月期间从3个辅助生殖中心的4对夫妇中收集的13个第5天胚胎。每个中心根据第3天aCGH结果提供1个正常胚胎和3 - 4个单一非整倍体胚胎。将每个第5天胚胎的核型与其对应的第3天核型进行比较。
在第3天具有单一非整倍体的10个胚胎中,3个(30%)在第5天表现出不一致的核型,而其余7个单一非整倍体胚胎和3个正常胚胎从第3天到第5天保持相同的核型。第3天的单一非整倍体胚胎在第5天均未显示正常核型。
与之前一些报告表明某些胚胎中单一非整倍体可能得到纠正相反,本研究结果不支持在所分析的胚胎中存在这种可能性。对第3天单一非整倍体胚胎在第5天进行基因组重新分析似乎不是识别适合移植的整倍体胚胎的可靠方法。