Tongsong T, Pongsatha S
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.
Ultrasound Obstet Gynecol. 2000 Mar;15(3):252-5. doi: 10.1046/j.1469-0705.2000.00023.x.
A pregnant woman of 14 weeks' gestation was sonographically examined due to large-for-dates uterine size. The ultrasound examination showed poor ossification of all bony structures. All limbs were shortened with no evidence of fractures. The echodensity approximated that of the surrounding organs. No acoustic shadowing was observed. Based on these sonographic findings, skeletal dysplasia and short-limb dwarfism were diagnosed, the most likely condition being congenital hypophosphatasia. Early cordocentesis was successfully performed at 15 weeks' gestation to determine fetal alkaline phosphatase concentration. This was undetectable. The prenatal diagnosis of congenital hypophosphatasia was made. After counselling, the woman decided to opt for termination of pregnancy which was performed vaginally. Post-abortion findings confirmed the prenatal diagnosis. To our knowledge, this is the earliest sonographic diagnosis of this condition reported.
一名妊娠14周的孕妇因子宫大小大于孕周接受超声检查。超声检查显示所有骨骼结构骨化不良。所有肢体均短小，无骨折迹象。回声密度与周围器官相近。未观察到声影。基于这些超声检查结果，诊断为骨骼发育异常和短肢侏儒症，最可能的情况是先天性低磷酸酯酶症。在妊娠15周时成功进行了早期脐带穿刺术以测定胎儿碱性磷酸酶浓度，结果未检测到。作出了先天性低磷酸酯酶症的产前诊断。咨询后，该名妇女决定选择终止妊娠，通过阴道进行了引产。流产后的检查结果证实了产前诊断。据我们所知，这是报道的该病症最早的超声诊断。
