Fetal akinesia deformation sequence: an etiology of fetal multiple joint contractures with poor prognosis / 中华超声影像学杂志

ABSTRACT

ObjectiveTo evaluate the diagnostic capability of prenatal ultrasound in diagnosis of fetal akinesia deformation sequence (FADS).MethodsThe prenatal sonographic characteristics of 5 fetuses with FADS were analyzed retrospectively.ResultsBoth 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.