Mansour Sahar, Baple Emma, Hall Christine M
1 Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
2 SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
J Hand Surg Eur Vol. 2019 Jan;44(1):96-108. doi: 10.1177/1753193418800631. Epub 2018 Sep 25.
Thalidomide embryopathy results from the ingestion of thalidomide in the first trimester during pregnancy, causing multiple forms of congenital abnormalities of variable severity that involve all systems. The skeletal findings most frequently affect the limbs, particularly the upper limbs and hands. Increasingly, several genetic disorders with similar birth defects have been identified. New cases of malformations owing to possible exposure to thalidomide continue to present through both historical and current usage. However, inadequate proof of ingestion, marked phenotypic variation and the possibility of an alternative genetic condition, hinder the diagnosis of thalidomide embryopathy. We introduce a 'diagnostic algorithm for thalidomide embryopathy' (DATE) diagnostic software that can potentially provide a numerical score for the likelihood of birth defects in an individual as being caused by exposure to thalidomide and to provide a differential diagnosis based on the pattern of malformation.
沙利度胺胚胎病是由于在孕期头三个月摄入沙利度胺所致，会引发多种严重程度不一的先天性异常，累及所有系统。骨骼方面的表现最常影响四肢，尤其是上肢和手部。越来越多具有类似出生缺陷的遗传疾病被发现。由于过去和现在使用沙利度胺，因可能接触该药物而导致的新畸形病例仍不断出现。然而，摄入证据不足、显著的表型变异以及存在其他遗传疾病的可能性，都阻碍了沙利度胺胚胎病的诊断。我们推出了一种“沙利度胺胚胎病诊断算法”（DATE）诊断软件，它有可能为个体因接触沙利度胺而导致出生缺陷的可能性提供一个数值评分，并根据畸形模式进行鉴别诊断。
