目的探讨人体鱼序列综合征的产前诊断及临床特征。方法对1例人体鱼序列征病例进行产前诊断及分析,结合文献讨论该综合征的产前超声、脐血Array-CGH、尸体病理解剖结果及临床特点。结果本例主要表现胎儿双下肢并腿畸形,双肾脏发育不良及外生殖器未发育等畸形,其染色体未见异常。结论人体鱼序列综合征的特点为多发畸形,通常在孕期可以通过超声诊断。 Objective To investigate the prenatal diagnosis and clinical features of human fish syndrome. Methods Prenatal diagnosis and analysis of 1 case of human fish sequence were made. Prenatal ultrasound, Cord-CGH, ​​autopsy results and clinical features of this syndrome were discussed in the literature. Results The main manifestations of fetal lower limbs and leg deformities, double renal dysplasia and external genital undeveloped other deformities, the chromosome was normal. Conclusions Human fish syndrome is characterized by multiple deformities and can usually be diagnosed by ultrasound during pregnancy.