早孕期胎儿骨骼肢体畸形典型病例超声诊断

Ultrasonic diagnosis of typical cases of fetal skeletal and limb malformations in early pregnancy

目的探讨早孕期胎儿骨骼肢体畸形的超声诊断价值,提升对典型异常病例图像特征的辨识水平,提高对胎儿骨骼肢体畸形的早期检出能力。方法选择2017年1月至2019年12月于武汉大学人民医院行早孕期颈部透明带(NT)检查的胎儿9208例,回顾性分析其产前超声检查资料,统计早孕期超声诊断胎儿骨骼肢体畸形的检出率,再认识典型异常图像的特征。结果9208例胎儿中检出胎儿骨骼肢体畸形17例,检出率0.18%,其中9例胎儿上肢/手异常,6例下肢/足异常,2例上肢/手和下肢/足同时异常;17例骨骼肢体畸形胎儿中12例合并其他系统异常,5例单发肢体畸形。结论孕早期胎儿四肢超声规范化结构筛查可以早发现胎儿骨骼肢体畸形,尽早地决定妊娠进程,对于优生优育具有重要意义。

Objective To investigate the value of ultrasound diagnosis of fetal skeletal and limb malformations in early pregnancy,to improve the recognition level of image characteristics of typical abnormal cases,and to improve the early detection of fetal skeletal and limb malformations.Methods A total of 9208 fetuses who underwent nuchal translucency(NT)examination during early pregnancy in People′s Hospital of Wuhan University from January 2017 to December 2019 were selected,and their prenatal ultrasound screening data were retrospectively analyzed,the detection rate of ultrasound diagnosis of fetal skeletal and limb malfomations during early pregnancy was counted,and then the characteristics of typical abnormal images were recognized.Results Seventeen cases of fetal skeletal and limb malformations were screen out in 9208 fetuses,with a detection rate of 0.18%.Among them,there were 9 cases of fetal upper limb/hand abnormality,6 cases of lower limb/foot abnormality,2 cases of upper limb/hand and lower limb/foot abnormality simultaneously;Among the 17 cases,12 complicatied with other system abnormalities,and 5 had only limb malformations.Conclusion Ultrasound standardized structure screening of fetal limbs in early pregnancy can detect fetal limb malformation,and determine the pregnancy process as early as possible,which is of great significance for healthy pregancy and scientific nurture.