FETAL AKINESIA HYPOKINESIA SEQUENCE - PRENATAL-DIAGNOSIS AND INTRA-FAMILIAL VARIABILITY

Intrauterine fetal movement plays a key role in normal embryonic and f etal development (Moessinger, 1983). When movement is absent or decrea sed, abnormal development takes place which can be appreciated in newb orns and/or fetuses with the fetal akinesia/hypokinesia sequence. This sequence is caused by a number of heterogeneous entities which result in decreased fetal movements by the action of intrinsic or extrinsic factors. Prenatal diagnosis of the akinesia/hypokinesia sequence may b e possible during the second trimester through the use of real-time ul trasonographic evaluation of fetal movement. We report a family with t hree consecutive affected pregnancies in which the prenatal presentati on of this sequence varied. Based on the phenotypic findings of the th ree affected fetuses, we believe that although they superficially rese mble those features found in the New-Laxova syndrome, they are probabl y affected with a distinctly different lethal form of akinesia/hypokin esia transmitted in an autosomal recessive fashion.