Spectrum of Limb Disruption Defects Associated With Chorionic Villus Sampling

A number of recent publications have suggested an increased incidence of transverse limb anomalies,1,2 the hypoglossia-hypodactylia syndrome,1 and cavernous hemangiomas3 in infants born to mothers who had undergone chorionic villus sampling (CVS) in the first trimester of pregnancy. We previously reported 4 CVS-related cases of transverse limb anomalies2 and since have examined 10 additional cases. The purpose of this report is to describe the spectrum of abnormalities observed in these 14 cases. We believe that the findings in these patients support an association between CVS and limb abnormalities by demonstrating that the type of anomaly associated with CVS is a very specific one that is uncommonly observed in the general population.