Assessment of Chromosomal Aneuploidy in PGT-A Embryos

Chettinad Health City Medical Journal Pub Date : 2023-06-30 DOI:10.24321/2278.2044.202324

G Shiva Krishna

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Abstract

Introduction: Preimplantation genetic testing is a procedure to evaluate genetically normal embryos and take them for embryo transfer. It helps in identifying chromosomal aneuploidies, mosaicism, and euploid embryos.Aim: To assess chromosomal aneuploidy through PGT-A in IVF embryos. Methods: A retrospective study was done from January 2021 to June 2022. 55 blastocysts were assessed for PGT-A through Comparative Genomic Hybridisation (CGH). Results: Among the 55 blastocysts included in the study, 19 embryos showed euploidy and 7 embryos showed multiple aneuploidies. Autosomes were normal but sex chromosomes were abnormal in 3 embryos. Multiple mosaic gain/ loss was reported in 4 embryos. Sex chromosomes abnormality was seen in 8 embryos. Conclusion: 19 embryos showed euploidy. More than half of the embryos showed aneuploidy. Mosaicism seems to be a more common phenomenon in IVF embryos as compared to other kinds of aneuploidy like syndromes, triploidy, monosomy, and other genetic abnormalities. Sex chromosome abnormality was reported in 8 embryos. How to cite this article:Krishna GS, Gupta SK. Assessment of Chromosomal Aneuploidy in PGT-A Embryos. Chettinad Health City Med J. 2023;12(2):28-32. DOI: https://doi.org/10.24321/2278.2044.202324

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PGT-A胚胎染色体非整倍体的评估

植入前基因检测是一种评估基因正常胚胎并将其用于胚胎移植的程序。它有助于鉴定染色体非整倍体、嵌合体和整倍体胚胎。目的:利用PGT-A技术评价体外受精胚胎的染色体非整倍性。方法:于2021年1月至2022年6月进行回顾性研究。通过比较基因组杂交(CGH)对55个囊胚进行PGT-A检测。结果:55个囊胚中，19个胚胎表现为整倍体，7个胚胎表现为多个非整倍体。3个胚胎常染色体正常，性染色体异常。报道了4个胚胎的多嵌合增减。8个胚胎出现性染色体异常。结论:19个胚胎呈现整倍体。超过一半的胚胎显示非整倍体。与其他非整倍体综合征、三倍体、单体和其他遗传异常相比，嵌合体似乎是体外受精胚胎中更常见的现象。8例胚胎出现性染色体异常。Krishna GS, Gupta SK. PGT-A胚胎染色体非整倍体的评估。中国卫生与城市医学杂志，2013;12(2):28-32。DOI: https://doi.org/10.24321/2278.2044.202324

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Chettinad Health City Medical Journal

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