Prenatal diagnosis of isolated limb defects: an updated review

Abstract

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.