Department of Urology, Bayor College of Medicine, One Baylor Plaza,Houston, TX 77030, USA.
Ther Adv Urol. 2010 Aug;2(4):157-69. doi: 10.1177/1756287210373758.
Male factors are implicated in up to 50% of couples being evaluated and treated for infertility with advanced assisted reproductive technologies. Genetic abnormalities, including sperm chromosome aneuploidy as well as structural aberrations, are one of the major causes of infertility. The use of chromosome-specific DNA probes labeled with fluorochromes, particularly the combination with multiple probes, has been used to indirectly study the sperm chromosome by fluorescent in situ hybridization (FISH). Clinically, this technique is also used to assess the sperm of men recovering from gonadotoxic treatment. Recent advances in this technology facilitate the evaluation of sperm aneuploidy. Sperm FISH is a widely used screening tool to aid in counseling couples with severe male factor infertility, especially in cases of prior repeated in vitro fertilization/intracytoplasmic sperm injection failure or recurrent pregnancy loss. Automation of FISH imaging and analysis, as well as the development of emerging techniques such as comparative genomic hybridization, will all contribute to the promise of future diagnostic approaches aimed at improving the quality, ease, and efficiency of aneuploidy analysis.
男性因素在多达 50%的夫妇中被牵连，这些夫妇正在接受先进的辅助生殖技术评估和治疗不孕。遗传异常，包括精子染色体非整倍体和结构异常，是不孕的主要原因之一。使用带有荧光染料的染色体特异性 DNA 探针，特别是与多个探针结合使用，已被用于通过荧光原位杂交（FISH）间接研究精子染色体。临床上，这项技术也用于评估从性腺毒性治疗中恢复的男性的精子。该技术的最新进展有助于评估精子非整倍体。精子 FISH 是一种广泛使用的筛选工具，可用于帮助咨询严重男性因素不孕的夫妇，特别是在先前反复体外受精/胞浆内精子注射失败或反复妊娠丢失的情况下。FISH 成像和分析的自动化，以及比较基因组杂交等新兴技术的发展，都将有助于实现未来诊断方法的承诺，这些方法旨在提高非整倍体分析的质量、简便性和效率。
