Objective To study the value of prenatal ultrasonography for the diagnosis of fetal limb deformity. Methods Sixty-three delivered fetuses with limb deformity detected by ultrasonography and 5 467 induced fetuses with normal extremities in our hospital from March 2009 to March 2012 were followed up. Results Of the 63 fetuses with limb deformity, 29 were found with lower limb deformity(13 with clubfoot deformity, 1 with split foot, 2 with apodia, 10 with femur benting, 1 with congenital absence of lower limbs, 1 with absence of fibula, 1 with polydactyl), 13 with upper limb deformity(2 with achiria, 5 with hand deformity, 4 with absence of radius, 2 with forearm short benting), 8 with lethal skeletal dysplasia, 11 with short limb deformity, 1 with camplomelic dysplasia, 1 with 6 fingers and 6-toe deformity. Chromosome was detected in 15 fetuses (trisomy-18 in 2 and trisomy-21 in 2). Missed diagnosis of sixteen fetuses with finger-toe deformity were made by ultrasonography from March 2009 to March 2012. Conclusion Fetal limb deformity is a common congenital deformity, including a various types. Systematic consecutive follow-up ultrasonography can increase its detection rate and reduce its misdiagnosis rate, thus contributing to its prenatal ultrasonographic diagnosis.% 目的探讨产前超声检查在诊断胎儿肢体畸形中的价值.方法对产前超声诊断肢体畸形的63例胎儿及2009年3月-2012年3月于我院分娩和引产5467例胎儿的肢体情况进行系统追踪随访.结果产前超声检测出肢体畸形63例,下肢畸形29例,其中胎儿足内翻畸形13例、裂足1例、脚缺失2例、股骨弯曲10例、下肢完全缺如1例、腓骨缺如1例、六趾畸形1例.上肢畸形13例,其中手缺失2例、手畸形5例、桡骨缺如4例、前臂短小弯曲2例.致死性骨或软骨发育不全8例,四肢短小11例,肢体屈曲症1例,六指六趾畸形1例.15例胎儿行染色体检查,2例为21-三体,2例为18-三体.2009年3月-2012年3月产前超声漏诊16例指趾畸形.结论肢体畸形为较常见的先天畸形,其种类繁多.应用连续顺序追踪法能够提高肢体畸形检出率,减少漏诊率.系统的追踪随访有利于提高产前超声诊断水平.
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