Prenatal diagnosis of radial ray defects by ultrasound: A report of 6 cases

Abstract

Objective: All of the medical records of fetuses with the sonographic finding of radial ray defects (RRDs) between 2008 and 2015 were retrieved. The associated sonographic findings, cytogenetic results, and necropsy findings were correlated. Case report: There were 6 cases of RRD. Three cases were bilateral and the other 3 cases were unilateral. The gestational ages at diagnosis were between 12 and 24 weeks gestation. All women carrying fetuses with RRDs opted to terminate the pregnancy. There were 2 cases of trisomy 18, one case of thrombocytopenia-absent radius syndrome, and 2 cases of isolated RRD. Both cases of trisomy 18 had other sonographic abnormalities. Conclusion: RRD should be considered if a short radius and abnormal angulation of the wrist or thumb is noted. The use of 3-D ultrasound facilitates the diagnosis of RRD, even at early gestation, by providing a better surface appearance, panoramic views, and spatial orientation.