Gramellini Dandolo, Fieni Stefania, Vadora Eugenio
Department of Gynecology, Obstetrics and Neonatology, University of Parma, Parma, Italy.
Fetal Diagn Ther. 2005 Mar-Apr;20(2):96-101. doi: 10.1159/000082430.
Abnormalities of bone segments, either isolated or in combination with others, may affect any single bone. Given the relatively low incidence of such defects and the relevance of the clinical issues involved, it could be useful to evaluate all the diagnostic and procedural aspects that should be considered at prenatal diagnosis, when obstetricians are confronted with an event that is certainly unfamiliar to most of them: a fetus with an isolated limb defect. In fact, with comparatively infrequent abnormalities investigators often tend to neglect some diagnostic aspects that could be useful both in terms of prenatal counseling and of optimum management of the affected fetus. Therefore, a multidisciplinary approach is required that supplements ultrasound diagnostics with additional tests and examinations, even of the invasive type, depending on the complexity of the condition. This updated review may represent a useful tool to reach the stated objectives.
骨段异常，无论是孤立存在还是与其他异常合并出现，都可能影响任何一块单独的骨头。鉴于此类缺陷的发生率相对较低以及所涉及临床问题的相关性，当产科医生面对一个大多数人肯定不熟悉的情况——一个患有孤立性肢体缺陷的胎儿时，评估产前诊断中应考虑的所有诊断和程序方面可能会有所帮助。事实上，对于相对罕见的异常情况，研究人员往往倾向于忽略一些在产前咨询和对受影响胎儿的最佳管理方面都可能有用的诊断方面。因此，需要一种多学科方法，根据病情的复杂程度，用额外的检查甚至侵入性检查来补充超声诊断。这篇更新的综述可能是实现上述目标的有用工具。
