连续顺序追踪超声法在胎儿肢体畸形诊断中的应用及漏诊分析

The clinical application of prenatal ultrasonography using a systematic continuous sequence approach in the diagnosis of fetal limb deformity,and the analysis of missed diagnosis

目的总结胎儿肢体畸形的超声声像图特征,并对超声漏诊的肢体畸形声像图进行分析。方法采用连续顺序追踪超声检测法对15246例胎儿行常规二维或三维超声系统筛查,观察胎儿肢体发育情况,有无姿势异常及伴发其他器官畸形,并与引产胎儿外观检查、X线检查结果进行对照分析,总结漏诊病例超声声像图特征。结果 15246例孕妇产前超声诊断胎儿畸形123例(0.8%,123/15246),其中胎儿肢体畸形38例,共9种畸形:(1)四肢短小畸形11例,其中成骨不全1例、骨发育不全2例、致死性侏儒1例、单纯四肢短小畸形7例。(2)足内翻8例,产前超声漏诊1例;(3)桡骨缺如及桡骨发育不全7例;(4)长骨缺如4例;(5)肢体远端手缺如1例;(6)多指2例,漏诊3例;(7)重叠指2例;(8)并指2例,漏诊1例;(9)人体鱼序列征1例。引产胎儿标本外观检查及胎儿标本X线检查(10例染色体检查)证实胎儿肢体畸形43例(35.0%,43/23)。5例漏诊胎儿(11.6%,5/43)中3例多指、1例并指、1例足内翻。43例肢体畸形胎儿中23例(53.5%,23/43)为单纯肢体畸形,20例(46.5%,20/43)合并1种或多种其他部位异常(神经、循环、消化、泌尿、骨骼系统畸形),以神经系统异常(35.0%,7/20)和心脏发育异常(30.0%,6/20)居多。10例胎儿行染色体核型分析,7例染色体正常,3例染色体异常(30.0%,3/10):1例并指畸形胎儿为13-三体,2例重叠指畸形胎儿均为18-三体)。结论胎儿肢体畸形超声声像图特征明显,应用连续顺序追踪超声检测法辅以三维成像检查可提高胎儿肢体畸形检出率;胎儿肢体畸形常与其他器官畸形伴发,部分胎儿畸形与染色体异常有一定关联性。

Objective To summarize the characteristics of fetal limb deformity in two-dimensional and three-dimensional ultrasonography（USG）,and analysis the causes of missed diagnosis.Methods Systematic continuous sequence approach（SCSA）was performed with two-dimensional or three-dimensional ultrasonography to examine 15 246 fetuses,observing the fetal limbs development,posture abnormalities and other organ deformities,comparing with the morphology and X-ray characteristics of the delivered fetuses,then to summarize the characteristics of fetal limb deformity in USG,and analyze the causes of missed diagnosis.Results One hundred and twenty-three abnormalities were diagnosed out of 15 246（0.8%,123/15 246）by prenatal USG,and 38 fetuses were fetal limb deformity which could be classified into 9 types：（1）Short limbs deformity,1 case of osteogenesis imperfecta,2 cases of achondroplasia,1 case of lethal dwarfism and 7 cases of simple short limbs deformity;（2）Foot varus,1 case missed;（3）Radial absence or hypoplasia（7 cases diagnosed）;（4）Long bone absence（4 cases diagnosed）;（5）Distal limbs absence（1 case diagnosed）;（6）Polydactylia（2 cases diagnosed and 3 cases missed）;（7）Overriding fingers（2 cases diagnosed）;（8）Syndactyly（2 cases diagnosed and 1case missed）;（9）Sirenomelia sequence（1 case diagnosed）.Forty-three cases（35.0%,43/123）of fetal limb deformity were confirmed in after labor fetuses with visual inspection and X-ray examination（10 cases of them with chromosome examination）.Five cases were missed（11.6%,5/43）,including 3 cases of polydactylia,1 case of syndactylia and 1 case of foot varus.Forty-three cases of fetal limb deformities among 23 cases（53.5%,23/43）were detected to be simple limb deformities.While the rest 20 cases（46.5%,20/43）complicated with one or more other organ deformities（including the nervous,circulatory,digestive,urinary,or skeletal system deformity）,mostly nervous system deformities（35.0%,7/20）and abnormal heart development（30.0%,6/20）.Seven cases out of 10 with chromosome examination were normal,while 1 case was trisomy-13 and 2 cases were trisomy-18.Conclusions The characteristics of fetal limb deformities are obvious in ultrasonography.The detection rate of fetal limb deformities can be greatly improved by using SCSA supplemented by three-dimensional ultrasonography.Fetal limb deformities often coexist with other organ deformities while partly associated with chromosomal abnormalities.