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

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. Key words: Ultrasonography, prenatal ;  Abnormalities, multiple;  Fetal akinesia deformation sequence