胎儿手畸形的产前超声诊断

Prenatal ultrasound diagnosis of fetal hand malformations

目的探讨产前二维及三维超声在胎儿手畸形分类中的作用。方法回顾性分析14例胎儿严重手畸形病例的产前声像图特征，结合家谱分析、染色体核型分析与引产后尸检病理结果等进行形态学分类。结果孕16-28周共检出严重手畸形胎儿14例，其中10例为双手同时受累，8例双侧畸形形态相同。13例合并其他超声异常表现。按畸形形态分为3类：手腕部姿势异常9例，3例合并桡骨完全缺失、手向桡侧偏斜，6例手向掌侧偏斜，包括家族遗传性先天性多发性关节弯曲畸形-远端1型、羊膜带综合征、体蒂异常、18-三体、四肢短小畸形各1例。手（指）缺如畸形3例，1例单纯性单侧手缺如，1例为5个手指缺如合并多囊性肾发育不良，1例为裂手裂足畸形。手指重叠畸形4例，3例为18三体，2例合并手腕部姿势异常。结论产前二维及三维超声在严重胎儿手畸形的检出、形态学分析和分类诊断等方面有重要作用。

Objective To determine the diagnostic value of two and three dimensional ultrasound in detecting fetal hand malformations. Methods In the retrospectively analysis, the severe fetal hand malformations detected by prenatal ultrasound during the recent three years in our hospital were classified according to the prenatal sonographic characteristics, family history,karyotype analysis and autopsy results, etc. Results Fourteen fetuses with hand-anomaly were detected during the 16 - 28th week of gestation, both hands were affected in 10 cases, with the same morphology bilaterally in 8 cases. Thirteen cases had other abnormal sonographic findings. They were detected and classified into three categories： Wrist deformity （9 cases） , three fetuses were associated with total absence of radius and radial clubhand, and six fetuses had palmar deviated hands, with various etiologies including familial hereditary arthrogryposis multiplex congenita, distal type 1 （AMCD1）, amniotic band syndrome, body stalk anomaly, trisomy18 and micromelia. Hand （figer） hypoplasia or aphasia （3 cases）, one hand was absent in one fetus without associated anomaly,absence of five fingers with ipsilateral multicystic dysplastic kidney in the second fetus, and the third fetus had split hand/foot malformation （SHFM）. Overlapping fingers （4 cases）, three of them were trisomy18,and two fetuses had both wrist deformity and overlapping fingers. Conclusions Prenatal two and three dimensional ultrasound play an important role in detecting and diagnosing severe type Of fetal hand malformations.