Laboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.
Genesis Athens Thessaly, Centre for Human Reproduction, 41335 Larissa, Greece.
Int J Mol Sci. 2024 Oct 21;25(20):11296. doi: 10.3390/ijms252011296.
Pre-implantation genetic testing (PGT) is a crucial process for selecting embryos created through assisted reproductive technology (ART). Couples with chromosomal rearrangements, infertility, recurrent miscarriages, advanced maternal age, known single-gene disorders, a family history of genetic conditions, previously affected pregnancies, poor embryo quality, or congenital anomalies may be candidates for PGT. Preimplantation genetic testing for aneuploidies (PGT-A) enables the selection and transfer of euploid embryos, significantly enhancing implantation rates in assisted reproduction. Fluorescence in situ hybridization (FISH) is the preferred method for analyzing biopsied cells to identify these abnormalities. While FISH is a well-established method for identifying sperm aneuploidy, NGS offers a more comprehensive assessment of genetic material, potentially enhancing our understanding of male infertility. Chromosomal abnormalities, arising during meiosis, can lead to aneuploid sperm, which may hinder embryo implantation and increase miscarriage rates. This review provides a comparative analysis of fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) in sperm evaluations, focusing on their implications for preimplantation genetic testing. This analysis explores the strengths and limitations of FISH and NGS, aiming to elucidate their roles in improving ART outcomes and reducing the risk of genetic disorders in offspring. Ultimately, the findings will inform best practices in sperm evaluations and preimplantation genetic testing strategies.
胚胎植入前遗传学检测（PGT）是选择通过辅助生殖技术（ART）创建的胚胎的关键过程。具有染色体重排、不孕、反复流产、高龄产妇、已知单基因疾病、遗传疾病家族史、先前受影响的妊娠、胚胎质量差或先天性畸形的夫妇可能是 PGT 的候选者。非整倍体胚胎植入前遗传学检测（PGT-A）可选择和转移整倍体胚胎，显著提高辅助生殖的着床率。荧光原位杂交（FISH）是分析活检细胞以识别这些异常的首选方法。虽然 FISH 是识别精子非整倍体的成熟方法，但 NGS 提供了对遗传物质的更全面评估，可能会增强我们对男性不育的理解。减数分裂过程中出现的染色体异常可导致非整倍体精子，这可能会阻碍胚胎着床并增加流产率。本文对 FISH 和 NGS 在精子评估中的比较分析，重点探讨其对胚胎植入前遗传学检测的影响。该分析探讨了 FISH 和 NGS 的优缺点，旨在阐明它们在改善辅助生殖结局和降低后代遗传疾病风险方面的作用。最终，研究结果将为精子评估和胚胎植入前遗传学检测策略提供最佳实践依据。
