Hyett J, Noble P, Sebire N J, Snijders R, Nicolaides K H
Harris Birthright Research Centre for Fetal Medicine, Kings College Hospital Medical School, London, UK.
Ultrasound Obstet Gynecol. 1997 May;9(5):310-3. doi: 10.1046/j.1469-0705.1997.09050310.x.
This study examines the ultrasonographic features of congenital lethal arthrogryposis. In 27 cases of arthrogryposis diagnosed in the second and third trimesters there was severe bilateral talipes, fixed flexion deformities of the wrists and elbows and either fixed flexion or extension 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 gestation the nuchal translucency thickness was above the 99th centile of the normal range for crown-rump length. In three other women with previously affected pregnancies, ultrasound examination at 10-14 weeks demonstrated normal fetal nuchal translucency thickness and none of these fetuses were subsequently found to have arthrogryposis. These findings 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 translucency thickness at 10-14 weeks of gestation.
本研究探讨先天性致死性关节挛缩症的超声特征。在妊娠中期诊断出的27例关节挛缩症病例中，均存在严重双侧马蹄内翻足、手腕和肘部固定性屈曲畸形以及膝关节固定性屈曲或伸展。其中7例（26%）出现颈部水肿。在妊娠13周时检查的2例关节挛缩症胎儿中，颈部半透明厚度高于根据顶臀长计算的正常范围的第99百分位数。在另外3例既往有受累妊娠史的孕妇中，妊娠10 - 14周时的超声检查显示胎儿颈部半透明厚度正常，且这些胎儿随后均未被发现患有关节挛缩症。这些发现表明，通常在妊娠中期通过多关节挛缩的表现来诊断的致死性关节挛缩症，在妊娠10 - 14周时可能表现为颈部半透明厚度增加。
