Ujházy Eduard, Mach Mojmír, Navarová Jana, Dubovický Michal
Institute of Experimental Pharmacology and Toxicology, Slovak Academy of Sciences, Bratislava, Slovak Republic.
Neuro Endocrinol Lett. 2012;33(3):304-13.
Teratology is the science of congenital developmental disorders (CDDs), overt or latent defects of the organism resulting from the effect of internal and external factors on developmental processes. In this article the significance and position of present-day teratology is discussed in the context of development of this branch of science and related disciplines. The authors present an updated overview of the most important milestones and stages of the development of teratology. Based on the analysis of the historical development of theses and theories that represent a decisive contribution to this field, we present a survey of the fundamental principles of experimental and clinical teratology. The aim of observing these principles is to get insight into developmental relations and to understand mechanisms of action on the level of cell populations (elementary morphogenetic processes), tissues and organs. It is important to realize that any negative intervention into the normal course of these processes, either on genetic or non-genetic basis, inevitably leads to a sequence of subsequent changes resulting in the development of congenital developmental disorders. Despite modern approaches of molecular biology and genetics, along with top diagnostic techniques, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases are referred to as "multifactorial", a term that is rather ambiguous. It either means that some of the basic principles of teratogenesis still escape our attention, or the interpretation of some of the well known principles might be misleading. A third possibility is rather pessimistic. The development of the individual is so sophisticated and dependent on a delicate network of a multitude of factors mutually affecting each other that it is extremely prone to give rise to a plethora of spontaneous errors which are unpredictable and impossible to prevent. Nevertheless, the long and complicated history of scientific endeavour has yielded considerable present-day knowledge on causes and mechanisms of CDDs, a history whose beginnings date back to antiquity.
畸形学是关于先天性发育障碍（CDD）的科学，即机体因内部和外部因素对发育过程的影响而产生的显性或隐性缺陷。在本文中，将结合该学科分支及相关学科的发展情况，探讨当代畸形学的意义和地位。作者呈现了畸形学发展中最重要的里程碑和阶段的最新概述。基于对代表该领域决定性贡献的论点和理论的历史发展分析，我们对实验和临床畸形学的基本原理进行了综述。遵循这些原理的目的是洞察发育关系，并了解细胞群体（基本形态发生过程）、组织和器官层面的作用机制。必须认识到，对这些过程的正常进程进行任何基于遗传或非遗传的负面干预，都不可避免地导致一系列后续变化，进而引发先天性发育障碍。尽管有分子生物学和遗传学的现代方法以及顶级诊断技术，但在所有先天性缺陷中，我们仍无法确定超过50%的实际病因。未查明的病例中有一半被称为“多因素的”，这一术语相当模糊。它要么意味着致畸发生的一些基本原理仍未被我们注意到，要么意味着对一些已知原理的解释可能具有误导性。第三种可能性相当悲观。个体的发育非常复杂，依赖于众多相互影响的因素构成的精细网络，因此极易产生大量无法预测且无法预防的自发错误。然而，漫长而复杂的科学探索历史已产生了关于先天性发育障碍病因和机制的相当多的当代知识，这段历史可追溯到古代。
