胎儿运动机能丧失变形序列：一种预后不良型胎儿多发关节挛缩畸形

Fetal akinesia deformation sequence： an etiology of fetal multiple joint contractures with poor prognosis

目的 探讨产前超声对胎儿运动机能丧失变形序列（fetal akinesia deformation sequence,FADS）的诊断能力.方法 回顾性分析5例FADS胎儿的产前超声特征.结果 5例FADS胎儿均存在多发关节挛缩及中枢神经系统异常,后者包括头围偏小5例,小脑偏小2例以及前额扁平1例.此外,FADS胎儿还存在小下颌、羊水过多、短脐带及宫内发育迟缓等异常表现.已知其中2例胎儿的染色体检查结果,均为正常核型.结论 产前超声是检出和诊断胎儿运动机能丧失变形序列的有效手段.

Objective To evaluate the diagnostic capability of prenatal ultrasound in diagnosis of fetal akinesia deformation sequence （FADS）.Methods The prenatal sonographic characteristics of 5 fetuses with FADS were analyzed retrospectively.Results Both multiple joint contractures and central nervous system （CNS） anomalies,which include 5 small head circumferences,2 short cerebellar diameters,and 1 flat forehead,were found by prenatal ultrasound in all 5 FADS fetuses.Additional fetal abnormalities such as micrognathia,polyhydramnios,short umbilical cord and intrauterine growth retardation were also observed.The results of fetal chromosome analysis were available in 2 cases indicating normal karyotype.Conclusions Prenatal identification and diagnosis of FADS is possible based on the findings of sonographic examination.