探讨连续顺序追踪超声法联合二维及三维超声在产前筛查胎儿手畸形中的应用价值。

对2011年1月至2014年12月在解放军第一〇五医院产前检查的28 541例胎儿行二维和三维超声检查，运用连续顺序追踪超声法重点观察胎儿手部，超声检出手部异常的胎儿均与临床分娩后随访或引产后病理检查结果对照，总结各种手畸形超声征象并对超声漏诊原因进行分析。

28 541例胎儿中产前超声检出手畸形34例（43只手），超声声像图表现：（1）裂手畸形5例，声像图显示胎儿手部中央纵向裂开分为两半（2例呈V字形）。（2）缺指或合并手指形态异常13例，声像图中胎儿部分手指指骨不显示或合并残留手指形态异常。（3）前臂及手发育异常3例，声像图显示胎儿尺、桡骨短小，手腕部结构失常。（4）手指弯斜或手姿势异常7例，声像图显示胎儿手腕部姿势呈钩状，手腕向桡侧偏斜内收弯曲，手掌面贴近前臂；或显示胎儿手半握拳状，拇指内收屈曲，食指弯曲斜压于中指背侧，小指压于无名指背。（5）手缺如6例，声像图显示胎儿手腕部以远缺失。分娩后随访或引产后病理检查证实胎儿手畸形37例（0.13%，37/28 541），产前超声正确诊断34例（91.89%，34/37），其中合并其他畸形18例（52.94%，18/34），染色体异常5例（13.51%，5/37）；漏诊3例（4只手畸形）：包括多指1例，小指中节及远节指骨缺失1例，小指中节指骨发育不良1例。

产前检查应用连续顺序追踪超声法联合实时三维超声观察胎儿缺指或合并手指形态异常等手畸形，手指弯斜或手姿势异常，可弥补二维超声显像不足，获得更多的诊断信息。

To explore the value of systematic continuous sequence approach combined with two- and three-dimensional ultrasonography in screening of fetal hand deformity.

Systematic continuous sequence approach was performed with two- and three-dimensional u1trasonography in 28 541 cases to detect the fetal hand from January 2011 to December 2014 in the 105th Hospital of PLA. Prenatal ultrasonic diagnosis was compared with clinical delivery follow-up and pathology results of induced labour, then prenatal ultrasound features of various fetal hand deformities and the causes of missed diagnosis were analyzed.

Thirty-four cases of fetal hand deformity were diagnosed out of 28 541 fetuses by prenatal ultrasonography (43 hands). In the 34 cases, there were 5 cases of cleft hand, 13 cases of ectrodactyly with fingers abnormal morphology, 3 cases of forearm and hand dysplasia, 7 cases of wrist or finger abnormal posture and 6 cases of hand absence of abnormal. Three missed cases included 1 case of polydacty, 1 case of middle phalanx and distal phalanx of the little thumb absence and 1 case of middle phalanx of little thumb absence. Hand deformity rate was 0.13% (37/28 541). The detection rate of prenatal ultrasonography was 91.89% (34/37). The rate of hand deformity complicated deformity with one or more other organ was 52.94% (18/34). The rate of chromosome abnormalities was 13.51% (5/37). Cleft hand showed that fetal hand from the central longitudinal split into two halves. Ectrodactyly with fingers abnormal morphology showed that one or multiple fingers were absent combined with residual finger abnormal morphology. Forearm and hand dysplasia showed that the forearm was abnormally developed, the ulna and radius were short and the structure of the wrist disappeared. Wrist or finger abnormal posture showed that a hook-shaped wrist or half fist shaped hand, thumb adduction flexion, the index finger bending baroclinic on the dorsal of the middle finger and small finger bending baroclinic on the dorsal of the ring finger dorsal. Hand absence showed that no fetal hands.

Application of systematic continuous sequence approach combined with real time three-dimensional ultrasonography in the diagnosis of fetal hand deformity, such as ectrodactyly with fingers abnormal morphology and wrist or finger abnormal posture, can make up for the shortage of two-dimensional ultrasonography and obtain more diagnostic information.