Seegmiller Robert E, Cook Nathan, Goodwin Korance, Leishman Timothy
School of Dental Medicine, Roseman University, South Jordan, UT, USA.
Methods Mol Biol. 2012;889:451-63. doi: 10.1007/978-1-61779-867-2_28.
Teratology is the study of anatomical and physiological abnormalities, commonly known as birth defects. If an embryo is exposed to a harmful substance, or teratogen, during the critical period of development, an ensuing malformation may occur. These malformations and their associated mechanisms are studied and analyzed in laboratory animals in order to prevent them from occurring in humans. Rodents, such as rabbits, rats, and mice, have commonly been used in such studies because of their similarity to humans. In 1959, James G. Wilson designed, developed, and tested a protocol on how to observe and analyze structural malformations in rodent fetuses, which included external examination, skeletal evaluation, soft tissue analysis, and data collection/analysis. Although many years have passed since Wilson created this protocol, it is still widely used to this day, and only minor changes have been made to his instructions such as the chemicals used in the experiments and also the analysis of the experimental data. While only minor modifications have been made to this protocol since its beginning, major advances have been made in the dissemination of teratology information to the public such that information is now available through the Internet--information including the identification of an increasing number of teratogens and the understanding of the pathogenesis as it relates to the etiology of birth defects. Despite these advances, however, there has been little decrease in the overall incidence of major birth defects, although significantly improved reporting and ascertainment of birth defects must be factored into the equation in determining birth defect rates. Future birth defect prevention may be based on the understanding of individual genomes and pharmacogenomics, and as the interaction between teratogenic and genetic factors is better understood--with the hope that the incidence of both chemically induced and genetic defects will one day be substantially reduced.
畸形学是对解剖学和生理学异常(通常称为出生缺陷)的研究。如果胚胎在发育的关键时期接触到有害物质或致畸剂,随后可能会出现畸形。为了防止这些畸形在人类中发生,人们在实验动物中对这些畸形及其相关机制进行研究和分析。由于与人类相似,兔子、大鼠和小鼠等啮齿动物通常被用于此类研究。1959年,詹姆斯·G·威尔逊设计、开发并测试了一种关于如何观察和分析啮齿动物胎儿结构畸形的方案,该方案包括外部检查、骨骼评估、软组织分析以及数据收集/分析。尽管自威尔逊创建该方案以来已经过去了很多年,但它至今仍被广泛使用,并且对他的指导说明仅做了一些小的改动,比如实验中使用的化学物质以及实验数据的分析。自该方案创立以来,虽然只做了一些小的修改,但在向公众传播畸形学信息方面取得了重大进展,以至于现在可以通过互联网获取相关信息——包括越来越多致畸剂的识别以及与出生缺陷病因相关的发病机制的理解等信息。然而,尽管有这些进展,主要出生缺陷的总体发生率几乎没有下降,不过在确定出生缺陷率时,必须将显著改善的出生缺陷报告和确诊情况考虑在内。未来出生缺陷的预防可能基于对个体基因组和药物基因组学的理解,并且随着致畸因素与遗传因素之间的相互作用得到更好的理解——希望有一天化学诱导缺陷和遗传缺陷的发生率都能大幅降低。