Rahemtullah A, McGillivray B, Wilson R D
Department of Medical Genetics, University of British Columbia, British Columbia Women's Hospital, Vancouver, Canada.
Am J Obstet Gynecol. 1997 Oct;177(4):864-9. doi: 10.1016/s0002-9378(97)70284-9.
Skeletal dysplasias are a group of bone growth disorders, some of which can be recognized prenatally. Certain types of skeletal dysplasias result in a lethal fetal outcome. The ability to predict this outcome prenatally would be important in counseling parents. This study evaluated the ratio of femur length to abdominal circumference as a predictor of fetal outcome in cases of suspected skeletal dysplasia.
This 3-year retrospective study identified 18 cases of prenatally suspected skeletal dysplasia from a population of approximately 35,000 fetuses undergoing prenatal ultrasonography. The femur length/abdominal circumference ratio was calculated and compared with fetal-neonatal outcomes and diagnoses.
Eighteen cases of suspected skeletal dysplasia were identified, and the femur length/abdominal circumference ratio was found to be a good predictor of fetal outcome independent of gestational age. A ratio < 0.16 resulted in a lethal outcome in nine of nine cases. Conversely, a ratio > or = 0.16 resulted in a diagnosis of a nonlethal form of skeletal dysplasia or a diagnosis that ruled out any form of skeletal dysplasia in nine of nine cases.
The femur length/abdominal circumference ratio may be useful to predict a lethal fetal outcome when ultrasonography indicates a possible skeletal dysplasia.
骨骼发育异常是一组骨骼生长紊乱疾病，其中一些在产前即可识别。某些类型的骨骼发育异常会导致胎儿死亡。产前预测这种结果的能力对于向父母提供咨询非常重要。本研究评估了股骨长度与腹围之比作为疑似骨骼发育异常病例中胎儿结局的预测指标。
这项为期3年的回顾性研究从约35000例接受产前超声检查的胎儿中确定了18例产前疑似骨骼发育异常的病例。计算股骨长度/腹围比，并与胎儿-新生儿结局及诊断结果进行比较。
确定了18例疑似骨骼发育异常的病例，发现股骨长度/腹围比是独立于孕周的胎儿结局的良好预测指标。比值<0.16在9例中有9例导致致命结局。相反，比值≥0.16在9例中有9例导致诊断为非致命性骨骼发育异常或排除任何形式骨骼发育异常的诊断结果。
当超声检查提示可能存在骨骼发育异常时，股骨长度/腹围比可能有助于预测胎儿的致命结局。
