Investigating the significance of segmental aneuploidy findings in preimplantation embryos

Ludovica Picchetta Ms.C. , Christian S. Ottolini Ph.D. , Helen C. O'Neill Ms.C., Ph.D. , Antonio Capalbo Ms.C., Ph.D.
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Abstract

Segmental aneuploidies (SAs) are structural imbalances, namely, gains or losses, involving a chromosomal segment. Most preimplantation genetic testing platforms can detect segmental imbalances greater than 5–10 Mb, either full or mosaic; however, questions remain about clinical significance. An in-depth review was performed to determine the accuracy, frequency, and types of SAs detected in preimplantation embryos. A comprehensive search of the literature revealed an incidence of approximately 8.15% in preimplantation embryos, compared with a prevalence of 3.55% in prenatal diagnosis samples. Several studies have used rebiopsy analysis to validate the accuracy and reproducibility of such findings in blastocyst-stage embryos. A comparison of these studies yielded a mean confirmation rate of SAs slightly higher than 30%. This result could be attributed to their mitotic origin as well as to the technical limitations of preimplantation genetic testing. In addition, the few available studies in which embryos with a segmental finding were transferred in utero are analyzed to discuss the reproductive competence of such embryos. Except for 1 study, all outcomes were described for segmental embryos in a mosaic state. As a result, there is still insufficient evidence to provide accurate information about the effect of segmental imbalances on embryonic reproductive competence and to determine gestational and newborn risks.

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研究着床前胚胎节段性非整倍体的意义
片段性非整倍体(SAs)是一种涉及染色体片段的结构失衡,即获得或损失。大多数植入前基因检测平台可以检测到大于5-10 Mb的节段不平衡,无论是完整的还是镶嵌的;然而,关于临床意义的问题仍然存在。我们进行了深入的回顾,以确定在植入前胚胎中检测到的sa的准确性、频率和类型。对文献的全面检索显示,着床前胚胎的发病率约为8.15%,而产前诊断样本的发病率为3.55%。几项研究使用了重新活检分析来验证这些发现在囊胚期胚胎中的准确性和可重复性。这些研究的比较得出sa的平均确认率略高于30%。这一结果可能归因于它们的有丝分裂起源以及胚胎植入前基因检测的技术限制。此外,有节段性发现的胚胎在子宫内移植的少数可用的研究进行了分析,以讨论这种胚胎的生殖能力。除1项研究外,其余研究均描述了处于嵌合状态的节段胚胎的结果。因此,仍然没有足够的证据来提供准确的信息,关于节段失衡对胚胎生殖能力的影响,并确定妊娠和新生儿的风险。
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来源期刊
F&S science
F&S science Endocrinology, Diabetes and Metabolism, Obstetrics, Gynecology and Women's Health, Urology
CiteScore
2.00
自引率
0.00%
发文量
0
审稿时长
51 days
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