Incidence of haploidy and triploidy in trophectoderm biopsies of blastocysts derived from normally and abnormally fertilized oocytes.

IF 3.2 3区医学 Q2 GENETICS & HEREDITY

Journal of Assisted Reproduction and Genetics Pub Date : 2024-10-08 DOI:10.1007/s10815-024-03278-4

Laura Girardi, Cristina Patassini, Jose Miravet Valenciano, Yoshimi Sato, Natalia Fagundes Cagnin, Jose Antonio Castellón, Francesco Cogo, Paola Zambon, David Blesa, Jorge Jimenez Almazan, Adedoyin Akinwole, Bruno Coprerski, Carmen Rubio

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引用次数: 0

Abstract

Purpose: We aimed to identify the correlation between morphological pronuclear (PN) status and the genetically determined ploidy configuration in preimplantation embryos.

Methods: A retrospective observational study was conducted on 1982 embryos displaying normal fertilization and 380 embryos showing an atypical PN pattern, tested for aneuploidies and ploidy status via preimplantation genetic testing (PGT) between May 2019 and May 2024. Ploidy prediction was performed using a validated targeted-NGS approach and a proprietary bioinformatic pipeline analyzing SNPs B-allele frequency information. Ploidy results were obtained in relation to the morphological PN pattern and further stratified by mode of PN observation, maternal age, and embryo quality parameters.

Results: Abnormal ploidy results in 2PN-derived embryos were 1% (n = 20/1982): 0.8% showed triploidy and 0.2% haploidy. Ploidy results in relation to PN number in atypical fertilization were as follows: 0PN (n = 150/380) associated with 87.3% of diploidy, 8.7% of haploidy, and 4.0% of triploidy; 1PN-derived blastocysts (n = 73/153) were haploid in 47.7% of cases, 6.5% were triploid, and 45.7% diploid; 2.1PN (n = 23/280) and 3PN patterns (n = 54/280) predicted a triploid result in 34.8% and 74.1% of cases, respectively. PN observation with time-lapse increased ploidy status predictivity from 28.3% to 80.4% (p < 0.01) and reduced expected diploid rates to 19.6% (p < 0.01). Diploidy rate was higher for maternal age ≤ 35 years and for morphologically high-grade embryos.

Conclusion: Morphological PN check can be improved by incorporating ploidy analysis within the conventional PGT workflow. Euploid 2PN-derived embryos can be further selected removing haploids and triploids, and some atypical PN pattern can be better classified.

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正常和异常受精卵囊胚滋养层活组织中单倍体和三倍体的发生率。

目的：我们旨在确定植入前胚胎的形态学代核（PN）状态与遗传学确定的倍性结构之间的相关性：在 2019 年 5 月至 2024 年 5 月期间，我们对 1982 个正常受精的胚胎和 380 个显示非典型 PN 模式的胚胎进行了回顾性观察研究，并通过植入前基因检测（PGT）检测了非整倍体和倍性状态。倍性预测是利用经过验证的靶向 NGS 方法和分析 SNPs B-等位基因频率信息的专有生物信息学管道进行的。倍性结果与形态学 PN 模式相关，并根据 PN 观察模式、母体年龄和胚胎质量参数进一步分层：结果：2PN衍生胚胎的倍性异常结果为1%（n = 20/1982）：0.8%为三倍体，0.2%为单倍体。非典型受精的胚胎倍性结果与 PN 数目的关系如下：0PN（n = 150/380）与87.3%的二倍体、8.7%的单倍体和4.0%的三倍体相关；1PN衍生囊胚（n = 73/153）在47.7%的病例中为单倍体，6.5%为三倍体，45.7%为二倍体；2.1PN（n = 23/280）和3PN模式（n = 54/280）分别在34.8%和74.1%的病例中预测出三倍体结果。通过延时观察 PN，多倍体状态预测率从 28.3% 提高到 80.4%（p 结论：形态学 PN 检查可提高多倍体状态预测率：在传统的 PGT 工作流程中加入倍性分析可改善形态学 PN 检查。通过进一步筛选，可以剔除单倍体和三倍体的2PN衍生胚胎，并能更好地对一些非典型PN模式进行分类。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Assisted Reproduction and Genetics 医学-妇产科学

CiteScore

5.70

自引率

9.70%

发文量

286

审稿时长

1 months

期刊介绍： The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species. The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.