摘要
目的总结胎儿肢体畸形产前超声声像图特征。方法采用二维、三维超声及连续顺序追踪超声法对28383例胎儿行系统超声筛查，观察胎儿肢体发育情况、有无姿势异常及伴发其他系统畸形；产前超声检查结果与引产胎儿肢体及X线检查结果对照，总结胎儿肢体畸形产前超声声像图特征。结果采用连续顺序追踪超声法产前检出胎儿各种畸形207例（0．7％，207／28383），其中肢体畸形29例（14％，29／207）。29例肢体畸形胎儿中手足畸形16例，产前超声声图像特征：（I）并指畸形1例，超声显示胎儿两个以上手指合并为一粗大畸形手指；（2）裂手、裂足畸形各1例，超声显示胎儿手（足）掌纵向分裂，仅见两个粗大畸形手（趾）指；（3）钩状手1例，超声显示胎儿手呈钩状；（4）足内翻12例，超声显示胎儿胫腓骨和足底平面在同一切面持续显示，呈足内收、内翻姿势，且不随胎动而改变。29例中13例为骨发育不良或肢体．体壁综合征，产前超声声图像特征：（1）成骨发育不全2例，超声显示小儿股骨、肱骨明显短小，长骨成角现象；（2）短肢畸形4例，超声显示胎儿四肢明显短小，双手足短小；（3）肢体．体壁综合征l例，超声显示胎儿肢体、胸腹壁缺失，伴内脏或心脏外翻；（4）前臂缺失2例，1例超声未显示前臂，手屈曲连接于上臂；1例前臂横断缺失，超声显示胎儿前臂及手缺如：（5）桡骨缺失4例，超声显示胎儿桡骨缺失，尺骨短小，手腕向桡侧弯曲成角畸形。29例胎儿中7例染色体检查，其中6例染色体正常；1例并指畸形胎儿染色体异常，为13-三体综合征。超声检出肢体畸形的胎儿中多为17-24孕周胎儿（93％，27，29），手足畸形胎儿（55％，16／29）略多于肢体畸形胎儿（45％，13／29）。结论产前超声是胎儿肢体畸形首选的筛查方法，采用连续顺序追踪超声法辅以三维超声系统扫查，可减少胎儿肢体畸形的漏诊。
Objective To summarize the sonographic features of fetal limb deformity. Methods Systematic continuous sequence approach （SCSA） was performed with two-dimensional and three- dimensional ultrasonography（USG） in 28 383 fetuses to observe the fetal limb development, posture abnormality and other accompanied malformations. Compared with the pathological and radiological findings, the characteristics of fetal limb deformity on USG were summarized. Results Among 28 383 fetuses prenatal ultrasound detected 207 cases of fetal malformations （0.7%, 207/28 383） including 29 cases of limb deformities （14%, 29/207）. In the 29 cases, there were osteogenesis imperfecta in 2 cases, syndactyly in 1 case, cleft hand deformities in 1 case, uncifom hand in 1 case, clubfoot deformity in 12 cases, cleft foot in 1 case, micromelia in 4 cases, limb body wall complex in 1 case, forearm defect in 2 cases, and radius absence in 4 cases. Chromosome karyotype analysis was conducted in 7/29 cases, of which 6 cases were normal and 1 case was trisomy-13 with syndactyly. In addition, the fetal limb deformities were found at 17-19 weeks of gestation in 4 cases, at 20-24 weeks in 23 cases, and at 25-33 weeks in 2 cases. In summary, 27/29 cases were identified at 17-24 weeks of gestation. Conclusions Prenatal ultrasound is the first-choice method for screening of fetal limb deformity. The detection rate of limb deformity could be greatly improved by using SCSA method with the supplement of 3D ultrasound.
出处
《中华医学超声杂志（电子版）》
2014年第1期42-47,共6页
Chinese Journal of Medical Ultrasound(Electronic Edition)
关键词
超声检查
产前
先天畸形
胎儿
Ultrasonography, prenatal
Congenital abnormalities
Fetus
