Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy

Objective To monitor behavioral development in a fetus affected by the Pena -Shokeir phenotype due to fetal akinesia deformation sequence of myogenic o rigin. Methods Fetal behavioral development was studied sonographically in a fetus suspected of having fetal akinesia deformation sequence, between 15 and 35 weeks of gestation at 1-4-week intervals. Results fetal body movements were quantitatively and qualitatively abnormal from 28 weeks onwards. Behavioral deterioration coincided with the observa tion of structural anomalies such as club feet. Fetal heart rate and its va riation remained within normal limits and showed normal ultradian cyclicity , but the temporal linkage between body movements and heart rate pattern wo rsened with advancing gestation. Breathing movements, although present unti l the end of pregnancy, became increasingly shallow. Conclusion Our results provide sound evidence that the trajectory of behavi oral development with fetal akinesia deformation sequence, which has been h ypothesized to occuring man exclusively on the basis of retrospective analy ses and animal experiments, does indeed take place.