胎儿骨骼发育异常是胎儿常见的出生缺陷，包括胎儿肢体局部畸形和胎儿骨骼发育不良性疾病。文章对胎儿骨骼发育异常的影像学及遗传学诊断方式、常见的骨骼系统异常的影像学特征及临床干预措施作一综述，以提供临床参考。

Fetal skeleton anomalies is a common birth defect，including fetal malformations of partial limbs and fetal skeletal dysplasia. This article reviews the imaging and genetic diagnosis of fetal skeleton anomalies，the imaging characteristics of common skeletal system abnormalities and clinical intervention measures in order to provide clinical reference.