Department of Reproductive Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.
J Obstet Gynaecol Res. 2022 Dec;48(12):3077-3086. doi: 10.1111/jog.15422. Epub 2022 Sep 13.
Hydatidiform moles are classified into complete hydatidiform moles (CHMs), which are androgenetic and diploid, and partial hydatidiform moles (PHM), which are triploid with two paternal chromosomes and one maternal chromosome. The incidence of gestational trophoblastic neoplasia differs substantially between CHM and PHM. However, they are occasionally difficult to diagnose. In this review, auxiliary and experimental methods based on cytogenetic features and advanced molecular detection techniques applied to the diagnosis and analysis of hydatidiform moles are summarized, including basic principles, characteristics, and clinical implications. Short tandem repeat polymorphism analysis is considered the gold standard for the genetic diagnosis of hydatidiform moles. In clinical settings, immunohistochemical analyses of p57 , an imprinted gene product, are widely used to differentiate CHMs from other conceptuses, including PHMs. Recently, new molecular genetic techniques, such as single nucleotide polymorphism arrays, have been applied to research on hydatidiform moles. In addition to insights from classical methods, such as chromosome analysis, recently developed approaches have yielded novel findings related to the mechanism underlying the development of androgenetic CHMs.
葡萄胎分为完全性葡萄胎（CHM）和部分性葡萄胎（PHM），前者为二倍体，具有雄性遗传特征，后者为三倍体，具有两个父源染色体和一个母源染色体。CHM 和 PHM 的妊娠滋养细胞肿瘤发生率有显著差异。然而，它们有时难以诊断。在这篇综述中，总结了基于细胞遗传学特征的辅助和实验方法以及先进的分子检测技术在葡萄胎的诊断和分析中的应用，包括基本原理、特点和临床意义。短串联重复多态性分析被认为是葡萄胎遗传诊断的金标准。在临床实践中，p57（印迹基因产物）的免疫组织化学分析被广泛用于鉴别 CHM 与其他胎块，包括 PHM。最近，单核苷酸多态性阵列等新的分子遗传学技术已应用于葡萄胎的研究。除了染色体分析等经典方法的见解外，最近开发的方法还提供了与雄性 CHM 发育机制相关的新发现。
