LETHAL CONGENITAL ARTHROGRYPOSIS PRESENTS WITH INCREASED NUCHAL TRANSLUCENCY AT 10-14 WEEKS OF GESTATION

This study examines the ultrasonographic features of genital lethal ar throgryposis. In 27 cases of arthrogryposis diagnosed in the second an d third trimesters there was severe bilateral talipes, fixed flexion d eformities of the wrists and elbows and either fixed flexion or extens ion of the knees. In seven (26%) of the cases there was nuchal edema. In two fetuses with arthrogryposis that were examined at 13 weeks of g estation the nuchal translucency thickness was above the 99th centile of the normal range for crown-rump length. In three other women with p reviously affected pregnancies, ultrasound examination at 10-14 weeks demonstrated normal fetal nuchal translucency thickness and more of th ese fetuses were subsequently found to have arthrogryposis. These find ings suggest that lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translu cency thickness at 10-14 weeks of gestation.