Department of Pediatrics, School of Medicine, University of California-San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0828, USA.
Am J Med Genet C Semin Med Genet. 2011 Aug 15;157C(3):188-94. doi: 10.1002/ajmg.c.30311. Epub 2011 Jul 15.
The vast majority of information regarding the teratogenicity of new drugs as well as others for which adequate information is not available comes from postmarketing studies. Evaluation by a dysmorphologist of babies prenatally exposed to a particular agent has played an incredibly important role in these studies. Most of the known human teratogens have been identified by the astute clinician approach which involves the observation, documentation, and delineation of individual cases who display a novel phenotype after a particularly rare prenatal exposure. Prospective cohort studies focused on the evaluation of prenatally exposed children who have been ascertained prospectively prior to the known outcome of pregnancy and evaluated by a dysmorphologist for patterns of minor and major malformations have been equally effective. Although most human teratogens have been identified using one of these two methods, both have limitations. The purpose of this study is to set forth the extent to which a careful physical examination performed by a dysmorphologist trained in the identification of minor structural defects in development has added to our knowledge of human teratology and has been instrumental in the identification of new human teratogens. Although dysmorphologists have had a profound impact on our understanding of human teratogens. It is important to recognize that the two approaches outlined in this study must be complemented by other methodologies, such as case-control studies, that more appropriately address risks for major malformations in order to gain the full picture necessary to effectively counsel women about safety of drugs during pregnancy.
关于新药物以及其他药物的致畸性的绝大多数信息，都是来自上市后研究。一位畸形学专家对特定药物进行产前暴露的婴儿进行评估，在这些研究中发挥了非常重要的作用。大多数已知的人类致畸剂都是通过敏锐的临床医生的方法来识别的，这种方法包括观察、记录和描述在特别罕见的产前暴露后表现出新表型的个体病例。前瞻性队列研究侧重于评估那些在已知妊娠结果之前就已被前瞻性确定，并由畸形学专家评估微小和重大畸形模式的产前暴露儿童，其效果同样有效。尽管大多数人类致畸剂都是通过这两种方法中的一种来识别的，但这两种方法都有其局限性。本研究的目的是阐述经过训练识别发育中小的结构缺陷的畸形学专家进行的仔细体格检查在多大程度上增加了我们对人类致畸学的认识，并有助于识别新的人类致畸剂。尽管畸形学家对我们理解人类致畸剂产生了深远的影响，但重要的是要认识到，本研究中概述的两种方法必须辅以其他方法，例如病例对照研究，以便更适当地评估重大畸形的风险，从而获得全面的情况，以便有效地为妇女提供关于怀孕期间药物安全性的咨询。
